1-1558818-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558818
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558818
    reference: chr 1
allele count: 2
allele frequency: 2.676659528907923e-5
allele num: 74720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.28G>A
  hgvsp: ENSP00000426128.1:p.Ala10Thr
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.331G>A
  hgvsp: ENSP00000428264.1:p.Ala111Thr
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.289G>A
  hgvsp: ENSP00000348081.5:p.Ala97Thr
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.-15G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.-15G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.-15G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.160G>A
  hgvsp: ENSP00000367982.3:p.Ala54Thr
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.354G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.277G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.160G>A
  hgvsp: ENSP00000426007.1:p.Ala54Thr
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.28G>A
  hgvsp: ENSP00000424615.1:p.Ala10Thr
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.-15G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.-15G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.-15G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.160G>A
  hgvsp: ENSP00000353713.4:p.Ala54Thr
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.331G>A
  hgvsp: ENSP00000428660.1:p.Ala111Thr
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.331G>A
  hgvsp: ENSP00000426103.2:p.Ala111Thr
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.317G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.118G>A
  hgvsp: ENSP00000420935.1:p.Ala40Thr
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala111Thr
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum

1-1558825-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558825
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558825
    reference: chr 1
allele count: 1
allele frequency: 1.411273250726806e-5
allele num: 70858
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.338C>G
  hgvsp: ENSP00000428264.1:p.Pro113Arg
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.-8C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.-8C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.284C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.167C>G
  hgvsp: ENSP00000367982.3:p.Pro56Arg
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.361C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.-8C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.167C>G
  hgvsp: ENSP00000349741.4:p.Pro56Arg
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.125C>G
  hgvsp: ENSP00000420935.1:p.Pro42Arg
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.-8C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.296C>G
  hgvsp: ENSP00000348081.5:p.Pro99Arg
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.-8C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.338C>G
  hgvsp: ENSP00000428660.1:p.Pro113Arg
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.35C>G
  hgvsp: ENSP00000424615.1:p.Pro12Arg
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.338C>G
  hgvsp: ENSP00000426103.2:p.Pro113Arg
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.-8C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.35C>G
  hgvsp: ENSP00000426128.1:p.Pro12Arg
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.324C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.167C>G
  hgvsp: ENSP00000353713.4:p.Pro56Arg
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.302C>G
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro113Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

1-1558825-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558825
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558825
    reference: chr 1
allele count: 6
allele frequency: 8.467639504360834e-5
allele num: 70858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.-8C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.-8C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.361C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.324C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.167C>T
  hgvsp: ENSP00000349741.4:p.Pro56Leu
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.-8C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.167C>T
  hgvsp: ENSP00000426007.1:p.Pro56Leu
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.338C>T
  hgvsp: ENSP00000428660.1:p.Pro113Leu
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.296C>T
  hgvsp: ENSP00000348081.5:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.167C>T
  hgvsp: ENSP00000367982.3:p.Pro56Leu
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.125C>T
  hgvsp: ENSP00000420935.1:p.Pro42Leu
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.338C>T
  hgvsp: ENSP00000428264.1:p.Pro113Leu
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.338C>T
  hgvsp: ENSP00000426103.2:p.Pro113Leu
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.35C>T
  hgvsp: ENSP00000426128.1:p.Pro12Leu
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.284C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.-8C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.-8C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.167C>T
  hgvsp: ENSP00000353713.4:p.Pro56Leu
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.302C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.-8C>T
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro113Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

1-1558826-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558826
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558826
    reference: chr 1
allele count: 37
allele frequency: 5.276668568168853e-4
allele num: 70120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.-7G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.339G>A
  hgvsp: ENST00000520777.1:c.339G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.303G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.168G>A
  hgvsp: ENST00000489635.1:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.36G>A
  hgvsp: ENST00000487053.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.339G>A
  hgvsp: ENST00000518681.1:c.339G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.168G>A
  hgvsp: ENST00000378710.3:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.-7G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.297G>A
  hgvsp: ENST00000355826.5:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.126G>A
  hgvsp: ENST00000514363.1:c.126G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.168G>A
  hgvsp: ENST00000360522.4:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.168G>A
  hgvsp: ENST00000357210.4:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.-7G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.339G>A
  hgvsp: ENST00000505820.2:c.339G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.-7G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.362G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.36G>A
  hgvsp: ENST00000504599.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.325G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.-7G>A
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro113Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP

1-1558831-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558831
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558831
    reference: chr 1
allele count: 7
allele frequency: 1.028413598566098e-4
allele num: 68066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.173A>G
  hgvsp: ENSP00000353713.4:p.Asn58Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.-2A>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.302A>G
  hgvsp: ENSP00000348081.5:p.Asn101Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.308A>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.344A>G
  hgvsp: ENSP00000426103.2:p.Asn115Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.41A>G
  hgvsp: ENSP00000426128.1:p.Asn14Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.-2A>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.330A>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.-2A>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.-2A>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.173A>G
  hgvsp: ENSP00000349741.4:p.Asn58Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.-2A>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.-2A>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.173A>G
  hgvsp: ENSP00000426007.1:p.Asn58Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.41A>G
  hgvsp: ENSP00000424615.1:p.Asn14Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.344A>G
  hgvsp: ENSP00000428264.1:p.Asn115Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.173A>G
  hgvsp: ENSP00000367982.3:p.Asn58Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.131A>G
  hgvsp: ENSP00000420935.1:p.Asn44Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.367A>G
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn115Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

1-1558840-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558840
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558840
    reference: chr 1
allele count: 1
allele frequency: 1.581727879535605e-5
allele num: 63222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.8C>T
  hgvsp: ENSP00000425032.1:p.Pro3Leu
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.317C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.182C>T
  hgvsp: ENSP00000349741.4:p.Pro61Leu
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.353C>T
  hgvsp: ENSP00000428660.1:p.Pro118Leu
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.299C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.8C>T
  hgvsp: ENSP00000426603.1:p.Pro3Leu
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.353C>T
  hgvsp: ENSP00000428264.1:p.Pro118Leu
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.8C>T
  hgvsp: ENSP00000367980.1:p.Pro3Leu
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.182C>T
  hgvsp: ENSP00000367982.3:p.Pro61Leu
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.353C>T
  hgvsp: ENSP00000426103.2:p.Pro118Leu
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.311C>T
  hgvsp: ENSP00000348081.5:p.Pro104Leu
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.50C>T
  hgvsp: ENSP00000424615.1:p.Pro17Leu
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.182C>T
  hgvsp: ENSP00000426007.1:p.Pro61Leu
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.50C>T
  hgvsp: ENSP00000426128.1:p.Pro17Leu
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.8C>T
  hgvsp: ENSP00000423221.1:p.Pro3Leu
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.182C>T
  hgvsp: ENSP00000353713.4:p.Pro61Leu
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.376C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.8C>T
  hgvsp: ENSP00000367984.1:p.Pro3Leu
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.8C>T
  hgvsp: ENSP00000426865.1:p.Pro3Leu
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro118Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/1-1558845-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558845
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558845
    reference: chr 1
allele count: 1
allele frequency: 1.673752217721688e-5
allele num: 59746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.55C>A
  hgvsp: ENSP00000424615.1:p.Pro19Thr
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.187C>A
  hgvsp: ENSP00000367982.3:p.Pro63Thr
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.13C>A
  hgvsp: ENSP00000425032.1:p.Pro5Thr
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.322C>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.187C>A
  hgvsp: ENSP00000349741.4:p.Pro63Thr
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.13C>A
  hgvsp: ENSP00000426603.1:p.Pro5Thr
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.358C>A
  hgvsp: ENSP00000426103.2:p.Pro120Thr
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.13C>A
  hgvsp: ENSP00000423221.1:p.Pro5Thr
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.358C>A
  hgvsp: ENSP00000428660.1:p.Pro120Thr
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.344C>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.187C>A
  hgvsp: ENSP00000353713.4:p.Pro63Thr
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.187C>A
  hgvsp: ENSP00000426007.1:p.Pro63Thr
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.358C>A
  hgvsp: ENSP00000428264.1:p.Pro120Thr
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.316C>A
  hgvsp: ENSP00000348081.5:p.Pro106Thr
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.13C>A
  hgvsp: ENSP00000367980.1:p.Pro5Thr
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.145C>A
  hgvsp: ENSP00000420935.1:p.Pro49Thr
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.13C>A
  hgvsp: ENSP00000367984.1:p.Pro5Thr
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.13C>A
  hgvsp: ENSP00000426865.1:p.Pro5Thr
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.381C>A
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro120Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

1-1558847-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558847
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558847
    reference: chr 1
allele count: 1
allele frequency: 1.717209877391215e-5
allele num: 58234
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.360C>T
  hgvsp: ENST00000505820.2:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.15C>T
  hgvsp: ENST00000506488.1:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.346C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.15C>T
  hgvsp: ENST00000378712.1:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.15C>T
  hgvsp: ENST00000378708.1:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.318C>T
  hgvsp: ENST00000355826.5:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.57C>T
  hgvsp: ENST00000504599.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.360C>T
  hgvsp: ENST00000518681.1:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.15C>T
  hgvsp: ENST00000503789.1:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.57C>T
  hgvsp: ENST00000487053.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.189C>T
  hgvsp: ENST00000360522.4:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.360C>T
  hgvsp: ENST00000520777.1:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.147C>T
  hgvsp: ENST00000514363.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.189C>T
  hgvsp: ENST00000378710.3:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.324C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.15C>T
  hgvsp: ENST00000510793.1:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.189C>T
  hgvsp: ENST00000489635.1:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.383C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.15C>T
  hgvsp: ENST00000502470.1:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro120Pro
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

1-1558853-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558853
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558853
    reference: chr 1
allele count: 3
allele frequency: 5.675154175021755e-5
allele num: 52862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.324G>A
  hgvsp: ENST00000355826.5:c.324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.312G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.21G>A
  hgvsp: ENST00000510793.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.366G>A
  hgvsp: ENST00000520777.1:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.195G>A
  hgvsp: ENST00000360522.4:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.21G>A
  hgvsp: ENST00000378712.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.195G>A
  hgvsp: ENST00000378710.3:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.21G>A
  hgvsp: ENST00000378708.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.63G>A
  hgvsp: ENST00000487053.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.63G>A
  hgvsp: ENST00000504599.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.21G>A
  hgvsp: ENST00000502470.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.21G>A
  hgvsp: ENST00000506488.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.21G>A
  hgvsp: ENST00000503789.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.352G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.389G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.330G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.195G>A
  hgvsp: ENST00000489635.1:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.366G>A
  hgvsp: ENST00000518681.1:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.366G>A
  hgvsp: ENST00000505820.2:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala122Ala
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ

1-1558856-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558856
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558856
    reference: chr 1
allele count: 2
allele frequency: 3.905334687182692e-5
allele num: 51212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.66C>T
  hgvsp: ENST00000504599.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.355C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.198C>T
  hgvsp: ENST00000360522.4:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.24C>T
  hgvsp: ENST00000378712.1:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.369C>T
  hgvsp: ENST00000520777.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.24C>T
  hgvsp: ENST00000378708.1:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.198C>T
  hgvsp: ENST00000378710.3:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.24C>T
  hgvsp: ENST00000510793.1:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.392C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.333C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.198C>T
  hgvsp: ENST00000357210.4:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.327C>T
  hgvsp: ENST00000355826.5:c.327C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.24C>T
  hgvsp: ENST00000503789.1:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.369C>T
  hgvsp: ENST00000518681.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.24C>T
  hgvsp: ENST00000506488.1:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.24C>T
  hgvsp: ENST00000502470.1:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.315C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.156C>T
  hgvsp: ENST00000514363.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.66C>T
  hgvsp: ENST00000487053.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly123Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

1-1558872-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558872
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558872
    reference: chr 1
allele count: 2
allele frequency: 5.257347142631828e-5
allele num: 38042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.40C>T
  hgvsp: ENSP00000426603.1:p.Arg14Trp
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.82C>T
  hgvsp: ENSP00000424615.1:p.Arg28Trp
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.40C>T
  hgvsp: ENSP00000425032.1:p.Arg14Trp
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.349C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.40C>T
  hgvsp: ENSP00000423221.1:p.Arg14Trp
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.204+10C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.385C>T
  hgvsp: ENSP00000428264.1:p.Arg129Trp
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.343C>T
  hgvsp: ENSP00000348081.5:p.Arg115Trp
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.385C>T
  hgvsp: ENSP00000428660.1:p.Arg129Trp
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.331C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.214C>T
  hgvsp: ENSP00000367982.3:p.Arg72Trp
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.162+10C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.40C>T
  hgvsp: ENSP00000426865.1:p.Arg14Trp
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.82C>T
  hgvsp: ENSP00000426128.1:p.Arg28Trp
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.385C>T
  hgvsp: ENSP00000426103.2:p.Arg129Trp
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.214C>T
  hgvsp: ENSP00000353713.4:p.Arg72Trp
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.408C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.214C>T
  hgvsp: ENSP00000349741.4:p.Arg72Trp
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.40C>T
  hgvsp: ENSP00000367984.1:p.Arg14Trp
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg129Trp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ

1-1558883-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558883
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558883
    reference: chr 1
allele count: 5
allele frequency: 1.523368472366096e-4
allele num: 32822
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.360C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.93C>T
  hgvsp: ENST00000487053.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.51C>T
  hgvsp: ENST00000506488.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.396C>T
  hgvsp: ENST00000518681.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.361+21C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.51C>T
  hgvsp: ENST00000503789.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.51C>T
  hgvsp: ENST00000378712.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.419C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.51C>T
  hgvsp: ENST00000502470.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.396C>T
  hgvsp: ENST00000505820.2:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.51C>T
  hgvsp: ENST00000378708.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.225C>T
  hgvsp: ENST00000360522.4:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.204+21C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.225C>T
  hgvsp: ENST00000378710.3:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.225C>T
  hgvsp: ENST00000357210.4:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.342C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.51C>T
  hgvsp: ENST00000510793.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.354C>T
  hgvsp: ENST00000355826.5:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.93C>T
  hgvsp: ENST00000504599.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg132Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-1558886-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558886
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558886
    reference: chr 1
allele count: 2
allele frequency: 6.383657835939994e-5
allele num: 31330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.357C>T
  hgvsp: ENST00000355826.5:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.345C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.54C>T
  hgvsp: ENST00000510793.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.54C>T
  hgvsp: ENST00000378712.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.204+24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.422C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.399C>T
  hgvsp: ENST00000520777.1:c.399C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.54C>T
  hgvsp: ENST00000503789.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.96C>T
  hgvsp: ENST00000487053.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.54C>T
  hgvsp: ENST00000502470.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.228C>T
  hgvsp: ENST00000360522.4:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.96C>T
  hgvsp: ENST00000504599.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.54C>T
  hgvsp: ENST00000378708.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.54C>T
  hgvsp: ENST00000506488.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.361+24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.399C>T
  hgvsp: ENST00000518681.1:c.399C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.228C>T
  hgvsp: ENST00000357210.4:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.228C>T
  hgvsp: ENST00000378710.3:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.162+24C>T
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly133Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

1-1558887-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558887
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558887
    reference: chr 1
allele count: 1
allele frequency: 3.222480020623872e-5
allele num: 31032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.204+25G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.358G>A
  hgvsp: ENSP00000348081.5:p.Val120Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.162+25G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.364G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.400G>A
  hgvsp: ENSP00000426103.2:p.Val134Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.55G>A
  hgvsp: ENSP00000367984.1:p.Val19Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.55G>A
  hgvsp: ENSP00000426865.1:p.Val19Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.97G>A
  hgvsp: ENSP00000424615.1:p.Val33Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.400G>A
  hgvsp: ENSP00000428264.1:p.Val134Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.55G>A
  hgvsp: ENSP00000426603.1:p.Val19Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.55G>A
  hgvsp: ENSP00000425032.1:p.Val19Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.55G>A
  hgvsp: ENSP00000367980.1:p.Val19Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.55G>A
  hgvsp: ENSP00000423221.1:p.Val19Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.229G>A
  hgvsp: ENSP00000367982.3:p.Val77Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.423G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.97G>A
  hgvsp: ENSP00000426128.1:p.Val33Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.346G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.229G>A
  hgvsp: ENSP00000349741.4:p.Val77Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.229G>A
  hgvsp: ENSP00000353713.4:p.Val77Met
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val134Met
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

1-1558897-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558897
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558897
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 28164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.107A>T
  hgvsp: ENSP00000426128.1:p.Lys36Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.433A>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.410A>T
  hgvsp: ENSP00000426103.2:p.Lys137Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.65A>T
  hgvsp: ENSP00000426865.1:p.Lys22Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.410A>T
  hgvsp: ENSP00000428264.1:p.Lys137Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.239A>T
  hgvsp: ENSP00000353713.4:p.Lys80Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.361+35A>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.65A>T
  hgvsp: ENSP00000367984.1:p.Lys22Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.374A>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.239A>T
  hgvsp: ENSP00000367982.3:p.Lys80Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.107A>T
  hgvsp: ENSP00000424615.1:p.Lys36Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.65A>T
  hgvsp: ENSP00000425032.1:p.Lys22Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.65A>T
  hgvsp: ENSP00000423221.1:p.Lys22Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.410A>T
  hgvsp: ENSP00000428660.1:p.Lys137Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.239A>T
  hgvsp: ENSP00000349741.4:p.Lys80Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.162+35A>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.65A>T
  hgvsp: ENSP00000426603.1:p.Lys22Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.356A>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.368A>T
  hgvsp: ENSP00000348081.5:p.Lys123Met
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys137Met
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

1-1558913-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558913
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558913
    reference: chr 1
allele count: 1
allele frequency: 4.637358560563902e-5
allele num: 21564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.81C>T
  hgvsp: ENST00000378712.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.361+51C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.81C>T
  hgvsp: ENST00000503789.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.426C>T
  hgvsp: ENST00000520777.1:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.449C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.81C>T
  hgvsp: ENST00000510793.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.426C>T
  hgvsp: ENST00000518681.1:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.390C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.123C>T
  hgvsp: ENST00000504599.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.123C>T
  hgvsp: ENST00000487053.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.81C>T
  hgvsp: ENST00000506488.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.255C>T
  hgvsp: ENST00000360522.4:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.372C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.384C>T
  hgvsp: ENST00000355826.5:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.426C>T
  hgvsp: ENST00000505820.2:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.255C>T
  hgvsp: ENST00000378710.3:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.255C>T
  hgvsp: ENST00000357210.4:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.204+51C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.81C>T
  hgvsp: ENST00000502470.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp142Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

1-1558914-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558914
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558914
    reference: chr 1
allele count: 1
allele frequency: 5.892751915144372e-5
allele num: 16970
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.256G>A
  hgvsp: ENSP00000353713.4:p.Gly86Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.82G>A
  hgvsp: ENSP00000426865.1:p.Gly28Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.391G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.82G>A
  hgvsp: ENSP00000426603.1:p.Gly28Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.124G>A
  hgvsp: ENSP00000424615.1:p.Gly42Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.82G>A
  hgvsp: ENSP00000423221.1:p.Gly28Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.82G>A
  hgvsp: ENSP00000367980.1:p.Gly28Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.427G>A
  hgvsp: ENSP00000428264.1:p.Gly143Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.162+52G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.82G>A
  hgvsp: ENSP00000367984.1:p.Gly28Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.385G>A
  hgvsp: ENSP00000348081.5:p.Gly129Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.361+52G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.82G>A
  hgvsp: ENSP00000425032.1:p.Gly28Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.124G>A
  hgvsp: ENSP00000426128.1:p.Gly42Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.256G>A
  hgvsp: ENSP00000367982.3:p.Gly86Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.204+52G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.427G>A
  hgvsp: ENSP00000426103.2:p.Gly143Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.256G>A
  hgvsp: ENSP00000349741.4:p.Gly86Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.373G>A
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly143Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

1-1558917-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558917
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558917
    reference: chr 1
allele count: 1
allele frequency: 5.869922517022775e-5
allele num: 17036
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.259G>A
  hgvsp: ENSP00000349741.4:p.Gly87Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.430G>A
  hgvsp: ENSP00000426103.2:p.Gly144Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.394G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.430G>A
  hgvsp: ENSP00000428660.1:p.Gly144Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.162+55G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.85G>A
  hgvsp: ENSP00000367984.1:p.Gly29Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.127G>A
  hgvsp: ENSP00000426128.1:p.Gly43Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.259G>A
  hgvsp: ENSP00000367982.3:p.Gly87Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.85G>A
  hgvsp: ENSP00000423221.1:p.Gly29Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.376G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.204+55G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.127G>A
  hgvsp: ENSP00000424615.1:p.Gly43Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.85G>A
  hgvsp: ENSP00000426603.1:p.Gly29Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.259G>A
  hgvsp: ENSP00000353713.4:p.Gly87Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.85G>A
  hgvsp: ENSP00000426865.1:p.Gly29Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.85G>A
  hgvsp: ENSP00000425032.1:p.Gly29Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.85G>A
  hgvsp: ENSP00000367980.1:p.Gly29Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.361+55G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.388G>A
  hgvsp: ENSP00000348081.5:p.Gly130Ser
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly144Ser
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ

1-1558919-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558919
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558919
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 16624
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.87C>T
  hgvsp: ENST00000378708.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.390C>T
  hgvsp: ENST00000355826.5:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.87C>T
  hgvsp: ENST00000506488.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.261C>T
  hgvsp: ENST00000378710.3:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.87C>T
  hgvsp: ENST00000378712.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.204+57C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.87C>T
  hgvsp: ENST00000502470.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.396C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.432C>T
  hgvsp: ENST00000520777.1:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.432C>T
  hgvsp: ENST00000505820.2:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.432C>T
  hgvsp: ENST00000518681.1:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.261C>T
  hgvsp: ENST00000357210.4:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.87C>T
  hgvsp: ENST00000503789.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.87C>T
  hgvsp: ENST00000510793.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.361+57C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.378C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.129C>T
  hgvsp: ENST00000487053.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.162+57C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.455C>T
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly144Gly
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-1558925-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558925
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558925
    reference: chr 1
allele count: 1
allele frequency: 6.841817186644773e-5
allele num: 14616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.361+63C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.267C>T
  hgvsp: ENST00000378710.3:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.93C>T
  hgvsp: ENST00000502470.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.93C>T
  hgvsp: ENST00000503789.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.438C>T
  hgvsp: ENST00000518681.1:c.438C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.438C>T
  hgvsp: ENST00000505820.2:c.438C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.135C>T
  hgvsp: ENST00000504599.1:c.135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.162+63C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.93C>T
  hgvsp: ENST00000506488.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.267C>T
  hgvsp: ENST00000360522.4:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.438C>T
  hgvsp: ENST00000520777.1:c.438C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.93C>T
  hgvsp: ENST00000510793.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.402C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.384C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.93C>T
  hgvsp: ENST00000378708.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.461C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.267C>T
  hgvsp: ENST00000357210.4:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.204+63C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.93C>T
  hgvsp: ENST00000378712.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly146Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

1-1558926-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558926
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558926
    reference: chr 1
allele count: 5
allele frequency: 3.447800303406427e-4
allele num: 14502
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.268G>A
  hgvsp: ENSP00000367982.3:p.Gly90Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.439G>A
  hgvsp: ENSP00000428264.1:p.Gly147Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.94G>A
  hgvsp: ENSP00000425032.1:p.Gly32Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.397G>A
  hgvsp: ENSP00000348081.5:p.Gly133Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.403G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.268G>A
  hgvsp: ENSP00000353713.4:p.Gly90Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.94G>A
  hgvsp: ENSP00000426603.1:p.Gly32Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.136G>A
  hgvsp: ENSP00000424615.1:p.Gly46Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.94G>A
  hgvsp: ENSP00000367980.1:p.Gly32Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.94G>A
  hgvsp: ENSP00000426865.1:p.Gly32Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.136G>A
  hgvsp: ENSP00000426128.1:p.Gly46Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.94G>A
  hgvsp: ENSP00000423221.1:p.Gly32Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.385G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.439G>A
  hgvsp: ENSP00000428660.1:p.Gly147Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.268G>A
  hgvsp: ENSP00000349741.4:p.Gly90Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.462G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.204+64G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.162+64G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.439G>A
  hgvsp: ENSP00000426103.2:p.Gly147Ser
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly147Ser
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum

1-1558929-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558929
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558929
    reference: chr 1
allele count: 1
allele frequency: 8.126117341134406e-5
allele num: 12306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.400G>A
  hgvsp: ENSP00000348081.5:p.Val134Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.139G>A
  hgvsp: ENSP00000424615.1:p.Val47Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.271G>A
  hgvsp: ENSP00000353713.4:p.Val91Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.361+67G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.97G>A
  hgvsp: ENSP00000367984.1:p.Val33Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.97G>A
  hgvsp: ENSP00000426865.1:p.Val33Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.271G>A
  hgvsp: ENSP00000367982.3:p.Val91Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.442G>A
  hgvsp: ENSP00000428264.1:p.Val148Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.97G>A
  hgvsp: ENSP00000425032.1:p.Val33Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.97G>A
  hgvsp: ENSP00000367980.1:p.Val33Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.442G>A
  hgvsp: ENSP00000426103.2:p.Val148Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.204+67G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.97G>A
  hgvsp: ENSP00000423221.1:p.Val33Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.139G>A
  hgvsp: ENSP00000426128.1:p.Val47Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.162+67G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.271G>A
  hgvsp: ENSP00000349741.4:p.Val91Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.406G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.388G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.465G>A
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val148Met
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

1-1558936-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558936
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558936
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 11312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.104C>T
  hgvsp: ENSP00000426865.1:p.Thr35Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.278C>T
  hgvsp: ENSP00000367982.3:p.Thr93Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.104C>T
  hgvsp: ENSP00000425032.1:p.Thr35Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.472C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.104C>T
  hgvsp: ENSP00000367984.1:p.Thr35Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.449C>T
  hgvsp: ENSP00000426103.2:p.Thr150Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.104C>T
  hgvsp: ENSP00000426603.1:p.Thr35Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.278C>T
  hgvsp: ENSP00000353713.4:p.Thr93Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.407C>T
  hgvsp: ENSP00000348081.5:p.Thr136Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.104C>T
  hgvsp: ENSP00000367980.1:p.Thr35Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.278C>T
  hgvsp: ENSP00000349741.4:p.Thr93Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.104C>T
  hgvsp: ENSP00000423221.1:p.Thr35Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.449C>T
  hgvsp: ENSP00000428660.1:p.Thr150Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.449C>T
  hgvsp: ENSP00000428264.1:p.Thr150Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.162+74C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.146C>T
  hgvsp: ENSP00000424615.1:p.Thr49Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.361+74C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.395C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.146C>T
  hgvsp: ENSP00000426128.1:p.Thr49Met
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr150Met
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-1558937-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558937
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558937
    reference: chr 1
allele count: 10
allele frequency: 9.026900162484203e-4
allele num: 11078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.105G>A
  hgvsp: ENST00000502470.1:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.105G>A
  hgvsp: ENST00000506488.1:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.147G>A
  hgvsp: ENST00000504599.1:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.450G>A
  hgvsp: ENST00000518681.1:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.408G>A
  hgvsp: ENST00000355826.5:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.279G>A
  hgvsp: ENST00000360522.4:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.105G>A
  hgvsp: ENST00000378712.1:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.105G>A
  hgvsp: ENST00000503789.1:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.105G>A
  hgvsp: ENST00000378708.1:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.396G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.147G>A
  hgvsp: ENST00000487053.1:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.450G>A
  hgvsp: ENST00000505820.2:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.105G>A
  hgvsp: ENST00000510793.1:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.279G>A
  hgvsp: ENST00000378710.3:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.473G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.204+75G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.162+75G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.361+75G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.279G>A
  hgvsp: ENST00000357210.4:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr150Thr
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-1558947-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558947
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558947
    reference: chr 1
allele count: 1
allele frequency: 1.109877913429523e-4
allele num: 9010
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.418C>G
  hgvsp: ENSP00000348081.5:p.Leu140Val
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.406C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.115C>G
  hgvsp: ENSP00000423221.1:p.Leu39Val
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.289C>G
  hgvsp: ENSP00000349741.4:p.Leu97Val
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.460C>G
  hgvsp: ENSP00000428660.1:p.Leu154Val
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.162+85C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.289C>G
  hgvsp: ENSP00000353713.4:p.Leu97Val
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.483C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.115C>G
  hgvsp: ENSP00000425032.1:p.Leu39Val
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.115C>G
  hgvsp: ENSP00000426603.1:p.Leu39Val
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.115C>G
  hgvsp: ENSP00000426865.1:p.Leu39Val
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.115C>G
  hgvsp: ENSP00000367984.1:p.Leu39Val
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.157C>G
  hgvsp: ENSP00000424615.1:p.Leu53Val
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.115C>G
  hgvsp: ENSP00000367980.1:p.Leu39Val
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.204+85C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.424C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.460C>G
  hgvsp: ENSP00000426103.2:p.Leu154Val
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.289C>G
  hgvsp: ENSP00000367982.3:p.Leu97Val
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.460C>G
  hgvsp: ENSP00000428264.1:p.Leu154Val
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu154Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

1-1558947-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558947
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558947
    reference: chr 1
allele count: 1
allele frequency: 1.109877913429523e-4
allele num: 9010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.289C>T
  hgvsp: ENSP00000349741.4:p.Leu97Phe
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.115C>T
  hgvsp: ENSP00000426603.1:p.Leu39Phe
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.483C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.361+85C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.162+85C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.460C>T
  hgvsp: ENSP00000428660.1:p.Leu154Phe
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.115C>T
  hgvsp: ENSP00000423221.1:p.Leu39Phe
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.418C>T
  hgvsp: ENSP00000348081.5:p.Leu140Phe
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.289C>T
  hgvsp: ENSP00000353713.4:p.Leu97Phe
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.115C>T
  hgvsp: ENSP00000367980.1:p.Leu39Phe
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.157C>T
  hgvsp: ENSP00000426128.1:p.Leu53Phe
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.157C>T
  hgvsp: ENSP00000424615.1:p.Leu53Phe
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.204+85C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.115C>T
  hgvsp: ENSP00000426865.1:p.Leu39Phe
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.115C>T
  hgvsp: ENSP00000425032.1:p.Leu39Phe
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.460C>T
  hgvsp: ENSP00000428264.1:p.Leu154Phe
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.460C>T
  hgvsp: ENSP00000426103.2:p.Leu154Phe
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.406C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.115C>T
  hgvsp: ENSP00000367984.1:p.Leu39Phe
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu154Phe
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

1-1558953-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558953
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558953
    reference: chr 1
allele count: 3
allele frequency: 3.930817610062893e-4
allele num: 7632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.295C>T
  hgvsp: ENSP00000367982.3:p.Arg99Cys
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.466C>T
  hgvsp: ENSP00000426103.2:p.Arg156Cys
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.204+91C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.295C>T
  hgvsp: ENSP00000353713.4:p.Arg99Cys
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.163C>T
  hgvsp: ENSP00000426128.1:p.Arg55Cys
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.466C>T
  hgvsp: ENSP00000428264.1:p.Arg156Cys
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.121C>T
  hgvsp: ENSP00000367980.1:p.Arg41Cys
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.121C>T
  hgvsp: ENSP00000423221.1:p.Arg41Cys
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.162+91C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.121C>T
  hgvsp: ENSP00000426865.1:p.Arg41Cys
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.121C>T
  hgvsp: ENSP00000425032.1:p.Arg41Cys
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.163C>T
  hgvsp: ENSP00000424615.1:p.Arg55Cys
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.121C>T
  hgvsp: ENSP00000426603.1:p.Arg41Cys
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.430C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.466C>T
  hgvsp: ENSP00000428660.1:p.Arg156Cys
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.121C>T
  hgvsp: ENSP00000367984.1:p.Arg41Cys
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.424C>T
  hgvsp: ENSP00000348081.5:p.Arg142Cys
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.295C>T
  hgvsp: ENSP00000349741.4:p.Arg99Cys
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.361+91C>T
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg156Cys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-1558954-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558954
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558954
    reference: chr 1
allele count: 1
allele frequency: 1.445504481063891e-4
allele num: 6918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.122G>A
  hgvsp: ENSP00000426603.1:p.Arg41His
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.467G>A
  hgvsp: ENSP00000426103.2:p.Arg156His
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.164G>A
  hgvsp: ENSP00000424615.1:p.Arg55His
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.162+92G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.361+92G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.122G>A
  hgvsp: ENSP00000367980.1:p.Arg41His
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.425G>A
  hgvsp: ENSP00000348081.5:p.Arg142His
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.467G>A
  hgvsp: ENSP00000428660.1:p.Arg156His
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.164G>A
  hgvsp: ENSP00000426128.1:p.Arg55His
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.122G>A
  hgvsp: ENSP00000426865.1:p.Arg41His
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.204+92G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.296G>A
  hgvsp: ENSP00000353713.4:p.Arg99His
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.122G>A
  hgvsp: ENSP00000425032.1:p.Arg41His
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.122G>A
  hgvsp: ENSP00000423221.1:p.Arg41His
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.413G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.296G>A
  hgvsp: ENSP00000367982.3:p.Arg99His
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.490G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.467G>A
  hgvsp: ENSP00000428264.1:p.Arg156His
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.296G>A
  hgvsp: ENSP00000349741.4:p.Arg99His
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg156His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-1558958-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558958
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558958
    reference: chr 1
allele count: 4
allele frequency: 5.984440454817474e-4
allele num: 6684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.126C>T
  hgvsp: ENST00000503789.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.494C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.126C>T
  hgvsp: ENST00000506488.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.168C>T
  hgvsp: ENST00000487053.1:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.126C>T
  hgvsp: ENST00000502470.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.471C>T
  hgvsp: ENST00000505820.2:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.300C>T
  hgvsp: ENST00000360522.4:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.417C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.126C>T
  hgvsp: ENST00000510793.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.204+96C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.429C>T
  hgvsp: ENST00000355826.5:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.126C>T
  hgvsp: ENST00000378708.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.300C>T
  hgvsp: ENST00000378710.3:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.126C>T
  hgvsp: ENST00000378712.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.300C>T
  hgvsp: ENST00000357210.4:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.471C>T
  hgvsp: ENST00000518681.1:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.162+96C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.361+96C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.168C>T
  hgvsp: ENST00000504599.1:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His157His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ

1-1558961-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558961
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558961
    reference: chr 1
allele count: 1
allele frequency: 1.626545217957059e-4
allele num: 6148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.420C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.474C>T
  hgvsp: ENST00000520777.1:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.204+99C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.129C>T
  hgvsp: ENST00000503789.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.162+99C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.303C>T
  hgvsp: ENST00000360522.4:c.303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.171C>T
  hgvsp: ENST00000487053.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.129C>T
  hgvsp: ENST00000378708.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.438C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.129C>T
  hgvsp: ENST00000506488.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.303C>T
  hgvsp: ENST00000378710.3:c.303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.129C>T
  hgvsp: ENST00000502470.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.129C>T
  hgvsp: ENST00000510793.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.474C>T
  hgvsp: ENST00000505820.2:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.474C>T
  hgvsp: ENST00000518681.1:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.303C>T
  hgvsp: ENST00000357210.4:c.303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.432C>T
  hgvsp: ENST00000355826.5:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000508455
  gene symbol: MIB2
  hgvsc: ENST00000508455.1:n.1C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.497C>T
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly158Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD

1-1558970-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558970
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558970
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 5326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.204+108G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.138G>A
  hgvsp: ENST00000378708.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.312G>A
  hgvsp: ENST00000357210.4:c.312G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.180G>A
  hgvsp: ENST00000504599.1:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.506G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.162+108G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.138G>A
  hgvsp: ENST00000502470.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.483G>A
  hgvsp: ENST00000518681.1:c.483G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.138G>A
  hgvsp: ENST00000378712.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.312G>A
  hgvsp: ENST00000378710.3:c.312G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.138G>A
  hgvsp: ENST00000506488.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.180G>A
  hgvsp: ENST00000487053.1:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.483G>A
  hgvsp: ENST00000520777.1:c.483G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.138G>A
  hgvsp: ENST00000510793.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000508455
  gene symbol: MIB2
  hgvsc: ENST00000508455.1:n.10G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.441G>A
  hgvsp: ENST00000355826.5:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.138G>A
  hgvsp: ENST00000503789.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.361+108G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.429G>A
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser161Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

1-1558976-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558976
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558976
    reference: chr 1
allele count: 2
allele frequency: 4.168403501458941e-4
allele num: 4798
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.204+114C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.162+114C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.144C>T
  hgvsp: ENST00000510793.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.318C>T
  hgvsp: ENST00000378710.3:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000508455
  gene symbol: MIB2
  hgvsc: ENST00000508455.1:n.16C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.144C>T
  hgvsp: ENST00000378712.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.447C>T
  hgvsp: ENST00000355826.5:c.447C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.186C>T
  hgvsp: ENST00000487053.1:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.144C>T
  hgvsp: ENST00000506488.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.186C>T
  hgvsp: ENST00000504599.1:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.144C>T
  hgvsp: ENST00000502470.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.144C>T
  hgvsp: ENST00000503789.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.361+114C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.318C>T
  hgvsp: ENST00000360522.4:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.144C>T
  hgvsp: ENST00000378708.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.318C>T
  hgvsp: ENST00000357210.4:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.453C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.512C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.489C>T
  hgvsp: ENST00000505820.2:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro163Pro
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

1-1558977-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558977
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558977
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 4690
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.145G>A
  hgvsp: ENSP00000426865.1:p.Asp49Asn
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.145G>A
  hgvsp: ENSP00000423221.1:p.Asp49Asn
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.187G>A
  hgvsp: ENSP00000424615.1:p.Asp63Asn
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.145G>A
  hgvsp: ENSP00000425032.1:p.Asp49Asn
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.145G>A
  hgvsp: ENSP00000426603.1:p.Asp49Asn
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.448G>A
  hgvsp: ENSP00000348081.5:p.Asp150Asn
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.204+115G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.187G>A
  hgvsp: ENSP00000426128.1:p.Asp63Asn
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.319G>A
  hgvsp: ENSP00000367982.3:p.Asp107Asn
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.490G>A
  hgvsp: ENSP00000428264.1:p.Asp164Asn
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.319G>A
  hgvsp: ENSP00000349741.4:p.Asp107Asn
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.145G>A
  hgvsp: ENSP00000367980.1:p.Asp49Asn
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.436G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000508455
  gene symbol: MIB2
  hgvsc: ENST00000508455.1:n.17G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.361+115G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.490G>A
  hgvsp: ENSP00000428660.1:p.Asp164Asn
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.162+115G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.513G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.490G>A
  hgvsp: ENSP00000426103.2:p.Asp164Asn
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp164Asn
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

1-1558981-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1558981
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1558981
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 4426
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.149G>A
  hgvsp: ENSP00000426603.1:p.Arg50His
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.149G>A
  hgvsp: ENSP00000426865.1:p.Arg50His
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.458G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000508455
  gene symbol: MIB2
  hgvsc: ENST00000508455.1:n.21G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.494G>A
  hgvsp: ENSP00000426103.2:p.Arg165His
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.162+119G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.323G>A
  hgvsp: ENSP00000367982.3:p.Arg108His
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.149G>A
  hgvsp: ENSP00000367980.1:p.Arg50His
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.149G>A
  hgvsp: ENSP00000425032.1:p.Arg50His
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.452G>A
  hgvsp: ENSP00000348081.5:p.Arg151His
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.323G>A
  hgvsp: ENSP00000353713.4:p.Arg108His
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.323G>A
  hgvsp: ENSP00000349741.4:p.Arg108His
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.440G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.191G>A
  hgvsp: ENSP00000424615.1:p.Arg64His
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.517G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.494G>A
  hgvsp: ENSP00000428264.1:p.Arg165His
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.191G>A
  hgvsp: ENSP00000426128.1:p.Arg64His
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.361+119G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.149G>A
  hgvsp: ENSP00000423221.1:p.Arg50His
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg165His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

1-1559011-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1559011
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1559011
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 2074
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.353C>T
  hgvsp: ENSP00000367982.3:p.Thr118Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.353C>T
  hgvsp: ENSP00000349741.4:p.Thr118Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.362-143C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.179C>T
  hgvsp: ENSP00000426865.1:p.Thr60Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.353C>T
  hgvsp: ENSP00000353713.4:p.Thr118Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.547C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000508455
  gene symbol: MIB2
  hgvsc: ENST00000508455.1:n.51C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.488C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.179C>T
  hgvsp: ENSP00000426603.1:p.Thr60Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.482C>T
  hgvsp: ENSP00000348081.5:p.Thr161Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.205-143C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.179C>T
  hgvsp: ENSP00000423221.1:p.Thr60Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.524C>T
  hgvsp: ENSP00000428264.1:p.Thr175Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.221C>T
  hgvsp: ENSP00000426128.1:p.Thr74Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.179C>T
  hgvsp: ENSP00000425032.1:p.Thr60Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.179C>T
  hgvsp: ENSP00000367984.1:p.Thr60Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.524C>T
  hgvsp: ENSP00000426103.2:p.Thr175Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.524C>T
  hgvsp: ENSP00000428660.1:p.Thr175Met
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.470C>T
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr175Met
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-1559013-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1559013
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1559013
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 2030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.181C>T
  hgvsp: ENSP00000426603.1:p.Arg61Cys
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.223C>T
  hgvsp: ENSP00000426128.1:p.Arg75Cys
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.362-141C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.181C>T
  hgvsp: ENSP00000425032.1:p.Arg61Cys
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.355C>T
  hgvsp: ENSP00000353713.4:p.Arg119Cys
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.484C>T
  hgvsp: ENSP00000348081.5:p.Arg162Cys
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.181C>T
  hgvsp: ENSP00000367984.1:p.Arg61Cys
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.472C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.163-141C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.526C>T
  hgvsp: ENSP00000428264.1:p.Arg176Cys
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.526C>T
  hgvsp: ENSP00000428660.1:p.Arg176Cys
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.181C>T
  hgvsp: ENSP00000426865.1:p.Arg61Cys
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000508455
  gene symbol: MIB2
  hgvsc: ENST00000508455.1:n.53C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.549C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.355C>T
  hgvsp: ENSP00000349741.4:p.Arg119Cys
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.181C>T
  hgvsp: ENSP00000423221.1:p.Arg61Cys
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.205-141C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.181C>T
  hgvsp: ENSP00000367980.1:p.Arg61Cys
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.355C>T
  hgvsp: ENSP00000367982.3:p.Arg119Cys
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg176Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

1-1559030-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1559030
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1559030
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 1524
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.198C>T
  hgvsp: ENST00000378712.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.543C>T
  hgvsp: ENST00000505820.2:c.543C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.198C>T
  hgvsp: ENST00000510793.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.507C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.501C>T
  hgvsp: ENST00000355826.5:c.501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.372C>T
  hgvsp: ENST00000378710.3:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.198C>T
  hgvsp: ENST00000506488.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.489C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.543C>T
  hgvsp: ENST00000518681.1:c.543C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.198C>T
  hgvsp: ENST00000378708.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.372C>T
  hgvsp: ENST00000360522.4:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.566C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.198C>T
  hgvsp: ENST00000503789.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.198C>T
  hgvsp: ENST00000502470.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.240C>T
  hgvsp: ENST00000487053.1:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000508455
  gene symbol: MIB2
  hgvsc: ENST00000508455.1:n.70C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.362-124C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.205-124C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.163-124C>T
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala181Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

1-1559044-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1559044
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1559044
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 1548
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.386C>T
  hgvsp: ENSP00000349741.4:p.Ala129Val
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.254C>T
  hgvsp: ENSP00000424615.1:p.Ala85Val
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.212C>T
  hgvsp: ENSP00000423221.1:p.Ala71Val
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000508455
  gene symbol: MIB2
  hgvsc: ENST00000508455.1:n.84C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.212C>T
  hgvsp: ENSP00000425032.1:p.Ala71Val
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.205-110C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.386C>T
  hgvsp: ENSP00000353713.4:p.Ala129Val
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.212C>T
  hgvsp: ENSP00000426603.1:p.Ala71Val
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.503C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.386C>T
  hgvsp: ENSP00000367982.3:p.Ala129Val
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.557C>T
  hgvsp: ENSP00000428264.1:p.Ala186Val
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.212C>T
  hgvsp: ENSP00000367980.1:p.Ala71Val
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.212C>T
  hgvsp: ENSP00000426865.1:p.Ala71Val
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.580C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.515C>T
  hgvsp: ENSP00000348081.5:p.Ala172Val
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.362-110C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.557C>T
  hgvsp: ENSP00000428660.1:p.Ala186Val
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.212C>T
  hgvsp: ENSP00000367984.1:p.Ala71Val
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.521C>T
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala186Val
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

1-1559048-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1559048
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1559048
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 1652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.163-106C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.205-106C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.216C>T
  hgvsp: ENST00000378708.1:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.561C>T
  hgvsp: ENST00000520777.1:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.216C>T
  hgvsp: ENST00000510793.1:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.258C>T
  hgvsp: ENST00000487053.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.561C>T
  hgvsp: ENST00000505820.2:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.216C>T
  hgvsp: ENST00000502470.1:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.561C>T
  hgvsp: ENST00000518681.1:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.507C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.216C>T
  hgvsp: ENST00000506488.1:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.519C>T
  hgvsp: ENST00000355826.5:c.519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000508455
  gene symbol: MIB2
  hgvsc: ENST00000508455.1:n.88C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.390C>T
  hgvsp: ENST00000360522.4:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.258C>T
  hgvsp: ENST00000504599.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.216C>T
  hgvsp: ENST00000503789.1:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.390C>T
  hgvsp: ENST00000378710.3:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.390C>T
  hgvsp: ENST00000357210.4:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.584C>T
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His187His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ

1-1559063-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1559063
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1559063
    reference: chr 1
allele count: 1
allele frequency: 4.651162790697675e-4
allele num: 2150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.599C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.231C>T
  hgvsp: ENST00000503789.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.231C>T
  hgvsp: ENST00000506488.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.576C>T
  hgvsp: ENST00000518681.1:c.576C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.534C>T
  hgvsp: ENST00000355826.5:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.405C>T
  hgvsp: ENST00000357210.4:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.576C>T
  hgvsp: ENST00000520777.1:c.576C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.405C>T
  hgvsp: ENST00000360522.4:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.405C>T
  hgvsp: ENST00000378710.3:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.227+4C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.576C>T
  hgvsp: ENST00000505820.2:c.576C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.273C>T
  hgvsp: ENST00000504599.1:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.273C>T
  hgvsp: ENST00000487053.1:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.540C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.231C>T
  hgvsp: ENST00000378712.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.231C>T
  hgvsp: ENST00000378708.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.231C>T
  hgvsp: ENST00000510793.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.205-91C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.522C>T
  variant of: http://identifiers.org/hgnc/30577
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.227+4C>T
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

1-1559070-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1559070
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1559070
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 2590
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.238G>T
  hgvsp: ENSP00000425032.1:p.Ala80Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.529G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.583G>T
  hgvsp: ENSP00000428660.1:p.Ala195Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000508455
  gene symbol: MIB2
  hgvsc: ENST00000508455.1:n.110G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.238G>T
  hgvsp: ENSP00000426603.1:p.Ala80Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.238G>T
  hgvsp: ENSP00000426865.1:p.Ala80Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.547G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.238G>T
  hgvsp: ENSP00000367980.1:p.Ala80Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.412G>T
  hgvsp: ENSP00000349741.4:p.Ala138Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.412G>T
  hgvsp: ENSP00000367982.3:p.Ala138Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.280G>T
  hgvsp: ENSP00000426128.1:p.Ala94Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.412G>T
  hgvsp: ENSP00000353713.4:p.Ala138Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.205-84G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.583G>T
  hgvsp: ENSP00000428264.1:p.Ala195Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.280G>T
  hgvsp: ENSP00000424615.1:p.Ala94Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.238G>T
  hgvsp: ENSP00000367984.1:p.Ala80Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.541G>T
  hgvsp: ENSP00000348081.5:p.Ala181Ser
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.362-84G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.163-84G>T
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala195Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-1559078-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1559078
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1559078
    reference: chr 1
allele count: 1
allele frequency: 3.295978905735003e-4
allele num: 3034
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.591C>T
  hgvsp: ENST00000518681.1:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.288C>T
  hgvsp: ENST00000487053.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.614C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.205-76C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.288C>T
  hgvsp: ENST00000504599.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.163-76C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.591C>T
  hgvsp: ENST00000520777.1:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.227+19C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.420C>T
  hgvsp: ENST00000357210.4:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.537C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.555C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.246C>T
  hgvsp: ENST00000506488.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000508455
  gene symbol: MIB2
  hgvsc: ENST00000508455.1:n.118C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.246C>T
  hgvsp: ENST00000510793.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.246C>T
  hgvsp: ENST00000503789.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.420C>T
  hgvsp: ENST00000360522.4:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.591C>T
  hgvsp: ENST00000505820.2:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.246C>T
  hgvsp: ENST00000378712.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.591C>T
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

1-1559084-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1559084
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1559084
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 3794
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.538+5G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.592+5G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.289+5G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.592+5G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.247+5G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.556+5G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.421+5G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.421+5G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.247+5G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.247+5G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.205-70G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.227+25G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000508455
  gene symbol: MIB2
  hgvsc: ENST00000508455.1:n.119+5G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.615+5G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.289+5G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.550+5G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.421+5G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.247+5G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.592+5G>A
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.592+5G>A
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-1559086-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1559086
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1559086
    reference: chr 1
allele count: 1
allele frequency: 2.436647173489279e-4
allele num: 4104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.592+7G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.247+7G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.205-68G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000508455
  gene symbol: MIB2
  hgvsc: ENST00000508455.1:n.119+7G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.421+7G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.247+7G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.247+7G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.556+7G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.163-68G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.247+7G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.227+27G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.538+7G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.592+7G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.289+7G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.247+7G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.592+7G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.550+7G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.421+7G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.289+7G>A
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.592+7G>A
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ

1-1559089-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1559089
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1559089
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 4710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.592+10A>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.362-65A>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.289+10A>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.205-65A>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.247+10A>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.247+10A>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.247+10A>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.227+30A>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.289+10A>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.592+10A>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.247+10A>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.163-65A>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.421+10A>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.592+10A>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.421+10A>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.538+10A>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.615+10A>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.421+10A>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.550+10A>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000508455
  gene symbol: MIB2
  hgvsc: ENST00000508455.1:n.119+10A>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.556+10A>T
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ

1-1559097-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1559097
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1559097
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 5704
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.592+18G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.289+18G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.362-57G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.205-57G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.163-57G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.421+18G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.592+18G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.421+18G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.556+18G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.247+18G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.592+18G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.421+18G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.615+18G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.289+18G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.247+18G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.247+18G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000508455
  gene symbol: MIB2
  hgvsc: ENST00000508455.1:n.119+18G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.550+18G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.247+18G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.227+38G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.247+18G>T
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-1559098-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1559098
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1559098
    reference: chr 1
allele count: 2
allele frequency: 3.427004797806717e-4
allele num: 5836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.592+19C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000508455
  gene symbol: MIB2
  hgvsc: ENST00000508455.1:n.119+19C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.421+19C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.247+19C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.615+19C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.205-56C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.247+19C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.362-56C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.289+19C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.421+19C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.556+19C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.538+19C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.247+19C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.247+19C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.247+19C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.592+19C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.592+19C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.289+19C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.550+19C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.421+19C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.227+39C>T
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-1559101-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1559101
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1559101
    reference: chr 1
allele count: 1
allele frequency: 1.438021282714984e-4
allele num: 6954
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.362-53G>C
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.550+22G>C
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.247+22G>C
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.289+22G>C
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.592+22G>C
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.421+22G>C
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.289+22G>C
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.421+22G>C
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.205-53G>C
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.163-53G>C
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.592+22G>C
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.538+22G>C
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.247+22G>C
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.592+22G>C
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.247+22G>C
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.247+22G>C
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.421+22G>C
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.247+22G>C
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.556+22G>C
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000508455
  gene symbol: MIB2
  hgvsc: ENST00000508455.1:n.119+22G>C
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.227+42G>C
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-1559103-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1559103
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1559103
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 7176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.362-51C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000508455
  gene symbol: MIB2
  hgvsc: ENST00000508455.1:n.119+24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.421+24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.556+24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.615+24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.592+24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.592+24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.163-51C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.247+24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.421+24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.289+24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.247+24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.289+24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.421+24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.205-51C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.538+24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.247+24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.247+24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.550+24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.227+44C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.247+24C>T
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

1-1559104-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1559104
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1559104
    reference: chr 1
allele count: 1
allele frequency: 1.250625312656328e-4
allele num: 7996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.247+25G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.227+45G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.205-50G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.362-50G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.538+25G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.247+25G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.421+25G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.289+25G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.592+25G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.163-50G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000508455
  gene symbol: MIB2
  hgvsc: ENST00000508455.1:n.119+25G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.247+25G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.592+25G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.247+25G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.247+25G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.615+25G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.289+25G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.550+25G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.592+25G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.421+25G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.556+25G>A
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

1-1559114-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1559114
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1559114
    reference: chr 1
allele count: 1
allele frequency: 1.388503193557345e-4
allele num: 7202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.592+35C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.538+35C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.592+35C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.247+35C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000508455
  gene symbol: MIB2
  hgvsc: ENST00000508455.1:n.119+35C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.556+35C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.289+35C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.205-40C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.289+35C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.615+35C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.247+35C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.228-40C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.247+35C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.362-40C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.247+35C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.421+35C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.163-40C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.247+35C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.421+35C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.421+35C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.592+35C>T
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

1-1559116-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1559116
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1559116
    reference: chr 1
allele count: 1
allele frequency: 1.097694840834248e-4
allele num: 9110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.205-38G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000508455
  gene symbol: MIB2
  hgvsc: ENST00000508455.1:n.119+37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.289+37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.163-38G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.550+37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.556+37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.247+37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.592+37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.421+37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.289+37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.421+37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.592+37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.247+37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.247+37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.228-38G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.421+37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.592+37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.247+37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.615+37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.362-38G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.247+37G>A
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

1-1559117-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1559117
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1559117
    reference: chr 1
allele count: 1
allele frequency: 1.03327133705311e-4
allele num: 9678
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.593-37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.422-37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.228-37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.248-37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.593-37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.248-37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.593-37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.616-37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.290-37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.422-37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.362-37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.539-37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.163-37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.248-37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.422-37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.551-37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.248-37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.290-37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.205-37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.557-37G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.248-37G>A
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD

1-1559119-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1559119
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1559119
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 10756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.593-35G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.616-35G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.539-35G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.248-35G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.163-35G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.557-35G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.290-35G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.248-35G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.593-35G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.205-35G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.422-35G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.362-35G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.422-35G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.593-35G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.248-35G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.422-35G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.248-35G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.228-35G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.290-35G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.551-35G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.248-35G>A
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-1559119-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1559119
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1559119
    reference: chr 1
allele count: 1
allele frequency: 9.297136481963555e-5
allele num: 10756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.248-35G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.362-35G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.593-35G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.205-35G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.616-35G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.539-35G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.248-35G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.422-35G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.228-35G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.593-35G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.248-35G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.290-35G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.557-35G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.163-35G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.290-35G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.593-35G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.248-35G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.248-35G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.422-35G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000508455
  gene symbol: MIB2
  hgvsc: ENST00000508455.1:n.120-35G>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.551-35G>T
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-1559120-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1559120
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1559120
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 6464
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.593-34C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.228-34C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.248-34C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.290-34C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.422-34C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.539-34C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.248-34C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.290-34C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.248-34C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.593-34C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.163-34C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.557-34C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.205-34C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.248-34C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.593-34C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.362-34C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.616-34C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.422-34C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.422-34C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.248-34C>G
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000508455
  gene symbol: MIB2
  hgvsc: ENST00000508455.1:n.120-34C>G
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

1-1559120-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1559120
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1559120
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 6464
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.228-34C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.290-34C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.422-34C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.422-34C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.593-34C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.616-34C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.290-34C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.593-34C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.248-34C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.539-34C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.593-34C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.248-34C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.163-34C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.248-34C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.422-34C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.551-34C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.557-34C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.362-34C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000508455
  gene symbol: MIB2
  hgvsc: ENST00000508455.1:n.120-34C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.248-34C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.205-34C>T
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

1-1559121-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1559121
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1559121
    reference: chr 1
allele count: 1
allele frequency: 7.819831091648421e-5
allele num: 12788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.163-33G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.248-33G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.362-33G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.422-33G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.593-33G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.205-33G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.290-33G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.551-33G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.290-33G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.422-33G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.616-33G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.593-33G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.422-33G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.539-33G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.248-33G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.248-33G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.228-33G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.557-33G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.248-33G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.593-33G>A
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.248-33G>A
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ

1-1559126-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1559126
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1559126
    reference: chr 1
allele count: 8
allele frequency: 5.796261411389654e-4
allele num: 13802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367984
  ensembl transcript: ENST00000378712
  gene symbol: MIB2
  hgvsc: ENST00000378712.1:c.248-28C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.248-28C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.593-28C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000424615
  ensembl transcript: ENST00000487053
  gene symbol: MIB2
  hgvsc: ENST00000487053.1:c.290-28C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.593-28C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.539-28C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.422-28C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000479659
  gene symbol: MIB2
  hgvsc: ENST00000479659.1:n.557-28C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.593-28C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.616-28C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.248-28C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426128
  ensembl transcript: ENST00000504599
  gene symbol: MIB2
  hgvsc: ENST00000504599.1:c.290-28C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367982
  ensembl transcript: ENST00000378710
  gene symbol: MIB2
  hgvsc: ENST00000378710.3:c.422-28C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426007
  ensembl transcript: ENST00000489635
  gene symbol: MIB2
  hgvsc: ENST00000489635.1:c.205-28C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000420935
  ensembl transcript: ENST00000514363
  gene symbol: MIB2
  hgvsc: ENST00000514363.1:c.163-28C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.228-28C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000367980
  ensembl transcript: ENST00000378708
  gene symbol: MIB2
  hgvsc: ENST00000378708.1:c.248-28C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.362-28C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000508455
  gene symbol: MIB2
  hgvsc: ENST00000508455.1:n.120-28C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.422-28C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426865
  ensembl transcript: ENST00000510793
  gene symbol: MIB2
  hgvsc: ENST00000510793.1:c.248-28C>T
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

1-1559130-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1559130
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1559130
    reference: chr 1
allele count: 2
allele frequency: 1.153269519086611e-4
allele num: 17342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000507229
  gene symbol: MIB2
  hgvsc: ENST00000507229.1:n.616-24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000348081
  ensembl transcript: ENST00000355826
  gene symbol: MIB2
  hgvsc: ENST00000355826.5:c.551-24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426603
  ensembl transcript: ENST00000503789
  gene symbol: MIB2
  hgvsc: ENST00000503789.1:c.248-24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000423221
  ensembl transcript: ENST00000502470
  gene symbol: MIB2
  hgvsc: ENST00000502470.1:c.228-24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000353713
  ensembl transcript: ENST00000360522
  gene symbol: MIB2
  hgvsc: ENST00000360522.4:c.422-24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000511502
  gene symbol: MIB2
  hgvsc: ENST00000511502.1:n.539-24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl transcript: ENST00000512004
  gene symbol: MIB2
  hgvsc: ENST00000512004.1:n.362-24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000425032
  ensembl transcript: ENST00000506488
  gene symbol: MIB2
  hgvsc: ENST00000506488.1:c.248-24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428660
  ensembl transcript: ENST00000520777
  gene symbol: MIB2
  hgvsc: ENST00000520777.1:c.593-24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000349741
  ensembl transcript: ENST00000357210
  gene symbol: MIB2
  hgvsc: ENST00000357210.4:c.422-24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000428264
  ensembl transcript: ENST00000518681
  gene symbol: MIB2
  hgvsc: ENST00000518681.1:c.593-24C>T
  variant of: http://identifiers.org/hgnc/30577
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197530
  ensembl protein: ENSP00000426103
  ensembl transcript: ENST00000505820
  gene symbol: MIB2
  hgvsc: ENST00000505820.2:c.593-24C>T
  variant of: http://identifiers.org/hgnc/30577
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: C

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000349741
ensembl transcript: ENST00000357210
gene symbol: MIB2
hgvsc: ENST00000357210.4:c.160G>A
hgvsp: ENSP00000349741.4:p.Ala54Thr
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000479659
gene symbol: MIB2
hgvsc: ENST00000479659.1:n.295G>A
variant of: http://identifiers.org/hgnc/30577

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

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

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

GenotypeDepth
all individuals: 1710
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3588
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8174
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3918
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9848
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 18392
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13751
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 490
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2911
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3608
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1638
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25407
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2911
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15042
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2230
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7098
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.73305566073457e-5
allele num: 42256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11802
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5062
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.53e-1

DP
type: SiteQuality
SIO_000300: 8.80253e5

QD
type: SiteQuality
SIO_000300: 7.34e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.03e-1

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000426007
ensembl transcript: ENST00000489635
gene symbol: MIB2
hgvsc: ENST00000489635.1:c.167C>G
hgvsp: ENSP00000426007.1:p.Pro56Arg
variant of: http://identifiers.org/hgnc/30577

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

GenotypeDepth
all individuals: 3876
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19653
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 3731
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7237
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 14128
bin: 1.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 9267
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1479
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 21
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13727
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4003
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2863
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2703
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27304
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 397
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40078
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.091175240485153e-4
allele num: 4782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5106
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.32e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 8.44871e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

FS
type: SiteQuality
SIO_000300: 5.035e0

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

QD
type: SiteQuality
SIO_000300: 1.282e1

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000424615
ensembl transcript: ENST00000487053
gene symbol: MIB2
hgvsc: ENST00000487053.1:c.35C>T
hgvsp: ENSP00000424615.1:p.Pro12Leu
variant of: http://identifiers.org/hgnc/30577

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

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

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

GenotypeDepth
all individuals: 9267
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19653
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3876
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7237
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14128
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 3731
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1479
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2863
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13727
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4003
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27304
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 94
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2703
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.916960438699569e-4
allele num: 5106
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 4.182350480970305e-4
allele num: 4782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.99026897549778e-5
allele num: 40078
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

FS
type: SiteQuality
SIO_000300: 5.035e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

QD
type: SiteQuality
SIO_000300: 1.282e1

DP
type: SiteQuality
SIO_000300: 8.44871e5

MQRankSum
type: SiteQuality
SIO_000300: -3.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000423221
ensembl transcript: ENST00000502470
gene symbol: MIB2
hgvsc: ENST00000502470.1:c.-7G>A
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000511502
gene symbol: MIB2
hgvsc: ENST00000511502.1:n.285G>A
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 7044
bin: 2.75e1
variant carriers: 7

GenotypeDepth
all individuals: 1
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19951
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 1407
bin: 3.25e1
variant carriers: 3

GenotypeDepth
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14372
bin: 1.25e1
variant carriers: 7

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

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3958
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 167
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 8874
bin: 2.25e1
variant carriers: 9

GenotypeDepth
all individuals: 3743
bin: 1.75e1
variant carriers: 8

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 19
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27706
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1477
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12932
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4079
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2903
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 486
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1238
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2702
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 546
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 9.75e1
variant carriers: 35

GenotypeQuality
all individuals: 365
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1855
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 82
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 37
allele frequency: 9.320368784321629e-4
allele num: 39698
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5082
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

QD
type: SiteQuality
SIO_000300: 1.079e1

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.33888e5

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000511502
gene symbol: MIB2
hgvsc: ENST00000511502.1:n.290A>G
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000428660
ensembl transcript: ENST00000520777
gene symbol: MIB2
hgvsc: ENST00000520777.1:c.344A>G
hgvsp: ENSP00000428660.1:p.Asn115Ser
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20772
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6497
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3531
bin: 1.75e1
variant carriers: 3

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8052
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4278
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14913
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1293
bin: 3.25e1
variant carriers: 1

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

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

GenotypeDepth
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4439
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1223
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 12036
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29125
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2705
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 667
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2893
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1646
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10972
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4928
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.820546163849155e-4
allele num: 38450
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.56e-1

FS
type: SiteQuality
SIO_000300: 5.154e0

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

QD
type: SiteQuality
SIO_000300: 8.960000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

DP
type: SiteQuality
SIO_000300: 8.05984e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.27e-2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000512004
gene symbol: MIB2
hgvsc: ENST00000512004.1:n.339C>T
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000420935
ensembl transcript: ENST00000514363
gene symbol: MIB2
hgvsc: ENST00000514363.1:c.140C>T
hgvsp: ENSP00000420935.1:p.Pro47Leu
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 22107
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5065
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 3561
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5378
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15779
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6209
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1056
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2756
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 914
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30818
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5359
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1139
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1367
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9470
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2923
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.726519337016575e-4
allele num: 5792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2050
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4246
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.171e0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

QD
type: SiteQuality
SIO_000300: 7.1e0

FS
type: SiteQuality
SIO_000300: 1.488e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.42e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.064e0

DP
type: SiteQuality
SIO_000300: 7.49258e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000426128
ensembl transcript: ENST00000504599
gene symbol: MIB2
hgvsc: ENST00000504599.1:c.55C>A
hgvsp: ENSP00000426128.1:p.Pro19Thr
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000511502
gene symbol: MIB2
hgvsc: ENST00000511502.1:n.304C>A
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 904
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4708
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3506
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5700
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22891
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5297
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16049
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 17
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1357
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2742
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8277
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6030
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2945
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31568
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4304
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.015847216578627e-4
allele num: 9844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33930
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3962
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.181e0

VQSLOD
type: SiteQuality
SIO_000300: -7.416e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.59e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 7.15152e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.82e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000349741
ensembl transcript: ENST00000357210
gene symbol: MIB2
hgvsc: ENST00000357210.4:c.189C>T
hgvsp: ENST00000357210.4:c.189C>T(p.%3D)
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000511502
gene symbol: MIB2
hgvsc: ENST00000511502.1:n.306C>T
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 23311
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4268
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3513
bin: 1.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 4983
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16053
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6085
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 804
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7366
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1118
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1871
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2968
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6382
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31576
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2795
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5252
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.41779497098646e-4
allele num: 4136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33098
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.65e-2

QD
type: SiteQuality
SIO_000300: 9.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.813e0

VQSLOD
type: SiteQuality
SIO_000300: -1.112e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.69e-1

MQ
type: SiteQuality
SIO_000300: 5.682e1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.96778e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000349741
ensembl transcript: ENST00000357210
gene symbol: MIB2
hgvsc: ENST00000357210.4:c.195G>A
hgvsp: ENST00000357210.4:c.195G>A(p.%3D)
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000420935
ensembl transcript: ENST00000514363
gene symbol: MIB2
hgvsc: ENST00000514363.1:c.153G>A
hgvsp: ENST00000514363.1:c.153G>A(p.%3D)
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 4302
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 24443
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15666
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3283
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7282
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 3317
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 594
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 73
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2945
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1249
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5867
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31851
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2660
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2072
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 623
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7663
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1285
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.354954148959964e-4
allele num: 8942
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30070
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.896e0

QD
type: SiteQuality
SIO_000300: 4.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.96e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.2e0

FS
type: SiteQuality
SIO_000300: 8.139999999999999e-1

DP
type: SiteQuality
SIO_000300: 6.50852e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000426103
ensembl transcript: ENST00000505820
gene symbol: MIB2
hgvsc: ENST00000505820.2:c.369C>T
hgvsp: ENST00000505820.2:c.369C>T(p.%3D)
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000426007
ensembl transcript: ENST00000489635
gene symbol: MIB2
hgvsc: ENST00000489635.1:c.198C>T
hgvsp: ENST00000489635.1:c.198C>T(p.%3D)
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15484
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7711
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24885
bin: 7.5e0
variant carriers: 1

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

GenotypeDepth
all individuals: 3056
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 511
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3075
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4129
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1893
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2561
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8091
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 5787
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32339
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2870
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4502
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.150483202945237e-4
allele num: 8692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1464
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.717391304347826e-3
allele num: 368
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

DP
type: SiteQuality
SIO_000300: 6.36065e5

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 1.864e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.01e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-1

QD
type: SiteQuality
SIO_000300: 1.196e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000512004
gene symbol: MIB2
hgvsc: ENST00000512004.1:n.361+10C>T
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000367980
ensembl transcript: ENST00000378708
gene symbol: MIB2
hgvsc: ENST00000378708.1:c.40C>T
hgvsp: ENSP00000367980.1:p.Arg14Trp
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 26495
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13466
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2402
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1443
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 262
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11732
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 2524
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 52
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2091
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3161
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2842
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 30020
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1305
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11976
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2479
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 160
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 930
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21738
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.462415911085113e-4
allele num: 6838
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 942
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3048
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.773584905660377e-4
allele num: 2650
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.87e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

FS
type: SiteQuality
SIO_000300: 1.375e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

QD
type: SiteQuality
SIO_000300: 2.07e0

DP
type: SiteQuality
SIO_000300: 5.32831e5

VQSLOD
type: SiteQuality
SIO_000300: -2.832e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000420935
ensembl transcript: ENST00000514363
gene symbol: MIB2
hgvsc: ENST00000514363.1:c.162+21C>T
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000428660
ensembl transcript: ENST00000520777
gene symbol: MIB2
hgvsc: ENST00000520777.1:c.396C>T
hgvsp: ENST00000520777.1:c.396C>T(p.%3D)
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2115
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 953
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1810
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 14060
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11821
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27102
bin: 7.5e0
variant carriers: 4

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

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 707
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29964
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 921
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 241
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 7.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2927
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14171
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1817
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1720
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2398
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2189
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 42
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.685203909673071e-4
allele num: 5934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 2.11595429538722e-4
allele num: 18904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

FS
type: SiteQuality
SIO_000300: 1.309e1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.89052e5

VQSLOD
type: SiteQuality
SIO_000300: -7.181e-1

QD
type: SiteQuality
SIO_000300: 9.220000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.09e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000426103
ensembl transcript: ENST00000505820
gene symbol: MIB2
hgvsc: ENST00000505820.2:c.399C>T
hgvsp: ENST00000505820.2:c.399C>T(p.%3D)
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000479659
gene symbol: MIB2
hgvsc: ENST00000479659.1:n.363C>T
variant of: http://identifiers.org/hgnc/30577

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

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14610
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 167
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1617
bin: 1.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 27163
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11388
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 881
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2120
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30029
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2733
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2421
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1757
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1578
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14761
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2091
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 240
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.52242102937928e-5
allele num: 18108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2234
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.23728813559322e-4
allele num: 2360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2062
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: 8.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

MQ
type: SiteQuality
SIO_000300: 5.833e1

VQSLOD
type: SiteQuality
SIO_000300: -1.951e0

FS
type: SiteQuality
SIO_000300: 2.283e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.73e-1

DP
type: SiteQuality
SIO_000300: 4.7997e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000428660
ensembl transcript: ENST00000520777
gene symbol: MIB2
hgvsc: ENST00000520777.1:c.400G>A
hgvsp: ENSP00000428660.1:p.Val134Met
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000512004
gene symbol: MIB2
hgvsc: ENST00000512004.1:n.361+25G>A
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 11249
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27227
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 859
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1483
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2159
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14792
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2405
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2525
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1689
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30446
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14978
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1525
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2060
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 96
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.897159647404506e-4
allele num: 2042
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5706
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17866
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.76e-1

FS
type: SiteQuality
SIO_000300: 1.931e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

DP
type: SiteQuality
SIO_000300: 4.77258e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

QD
type: SiteQuality
SIO_000300: 9.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.21e-2

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000426007
ensembl transcript: ENST00000489635
gene symbol: MIB2
hgvsc: ENST00000489635.1:c.204+35A>T
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000367980
ensembl transcript: ENST00000378708
gene symbol: MIB2
hgvsc: ENST00000378708.1:c.65A>T
hgvsp: ENSP00000367980.1:p.Lys22Met
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 1495
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10641
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 26175
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17055
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1304
bin: 1.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 683
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 216
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1936
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2441
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17383
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28959
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1661
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1796
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5258
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2056
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1826
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.794e0

DP
type: SiteQuality
SIO_000300: 4.44422e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 4.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.57e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000420935
ensembl transcript: ENST00000514363
gene symbol: MIB2
hgvsc: ENST00000514363.1:c.162+51C>T
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000367980
ensembl transcript: ENST00000378708
gene symbol: MIB2
hgvsc: ENST00000378708.1:c.81C>T
hgvsp: ENST00000378708.1:c.81C>T(p.%3D)
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 421
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 694
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1084
bin: 1.75e1
variant carriers: 1

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

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

GenotypeDepth
all individuals: 21961
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22877
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8882
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 22327
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2613
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1605
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22930
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2355
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 28
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.028259473346178e-5
allele num: 12456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4310
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.68e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

FS
type: SiteQuality
SIO_000300: 1.339e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 3.79644e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000507229
gene symbol: MIB2
hgvsc: ENST00000507229.1:n.450G>A
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000428660
ensembl transcript: ENST00000520777
gene symbol: MIB2
hgvsc: ENST00000520777.1:c.427G>A
hgvsp: ENSP00000428660.1:p.Gly143Ser
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1047
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7514
bin: 1.25e1
variant carriers: 1

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

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

GenotypeDepth
all individuals: 23795
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 21789
bin: 7.5e0
variant carriers: 4

GenotypeDepth
all individuals: 504
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 340
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23298
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 316
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17633
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 80
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1211
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5516
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2360
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2778
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1012
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 9.560229445506692e-4
allele num: 1046
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.50642e5

FS
type: SiteQuality
SIO_000300: 1.475e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.19e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.244e0

QD
type: SiteQuality
SIO_000300: 9.42e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000507229
gene symbol: MIB2
hgvsc: ENST00000507229.1:n.453G>A
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000428264
ensembl transcript: ENST00000518681
gene symbol: MIB2
hgvsc: ENST00000518681.1:c.430G>A
hgvsp: ENSP00000428264.1:p.Gly144Ser
variant of: http://identifiers.org/hgnc/30577

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

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21992
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 24096
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 519
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 924
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7171
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 338
bin: 2.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2634
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19271
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23856
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1946
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4054
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1020
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1038
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.561475409836066e-4
allele num: 3904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.16e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.03e0

DP
type: SiteQuality
SIO_000300: 3.47088e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: -2.204e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.161e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000426128
ensembl transcript: ENST00000504599
gene symbol: MIB2
hgvsc: ENST00000504599.1:c.129C>T
hgvsp: ENST00000504599.1:c.129C>T(p.%3D)
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000353713
ensembl transcript: ENST00000360522
gene symbol: MIB2
hgvsc: ENST00000360522.4:c.261C>T
hgvsp: ENST00000360522.4:c.261C>T(p.%3D)
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 887
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 530
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 21970
bin: 7.5e0
variant carriers: 2

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

GenotypeDepth
all individuals: 24236
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 7098
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 344
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3408
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23969
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2289
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19756
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2541
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 280
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1022
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1104
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1008
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3760
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.249e1

DP
type: SiteQuality
SIO_000300: 3.46323e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.29e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.808e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000348081
ensembl transcript: ENST00000355826
gene symbol: MIB2
hgvsc: ENST00000355826.5:c.396C>T
hgvsp: ENST00000355826.5:c.396C>T(p.%3D)
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000424615
ensembl transcript: ENST00000487053
gene symbol: MIB2
hgvsc: ENST00000487053.1:c.135C>T
hgvsp: ENST00000487053.1:c.135C>T(p.%3D)
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 21187
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6129
bin: 1.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 64
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 519
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 295
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 755
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 25809
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2087
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19121
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 715
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2347
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25450
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2943
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 5.882352941176471e-3
allele num: 170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8108
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 958
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

QD
type: SiteQuality
SIO_000300: 8.800000000000001e0

DP
type: SiteQuality
SIO_000300: 3.28681e5

FS
type: SiteQuality
SIO_000300: 3.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.56e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: -1.327e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000512004
gene symbol: MIB2
hgvsc: ENST00000512004.1:n.361+64G>A
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000367984
ensembl transcript: ENST00000378712
gene symbol: MIB2
hgvsc: ENST00000378712.1:c.94G>A
hgvsp: ENSP00000367984.1:p.Gly32Ser
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 676
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21032
bin: 7.5e0
variant carriers: 8

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

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 532
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 295
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5971
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 26159
bin: 2.5e0
variant carriers: 3

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2276
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 85
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19382
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2684
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25910
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1669
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 19
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 9.25e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 950
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 6.251562890722681e-4
allele num: 7998
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.42e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.25824e5

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-2

FS
type: SiteQuality
SIO_000300: 4.832e0

QD
type: SiteQuality
SIO_000300: 1.163e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000426603
ensembl transcript: ENST00000503789
gene symbol: MIB2
hgvsc: ENST00000503789.1:c.97G>A
hgvsp: ENSP00000426603.1:p.Val33Met
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000428660
ensembl transcript: ENST00000520777
gene symbol: MIB2
hgvsc: ENST00000520777.1:c.442G>A
hgvsp: ENSP00000428660.1:p.Val148Met
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 27336
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20193
bin: 7.5e0
variant carriers: 1

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

GenotypeDepth
all individuals: 5161
bin: 1.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 592
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 510
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 11
bin: 7.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 774
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 76
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26524
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2405
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3788
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16593
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2278
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3392
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 80
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.461988304093567e-3
allele num: 684
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.08742e5

FS
type: SiteQuality
SIO_000300: 1.84e0

VQSLOD
type: SiteQuality
SIO_000300: -1.427e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.86e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

QD
type: SiteQuality
SIO_000300: 5.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.203e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000426007
ensembl transcript: ENST00000489635
gene symbol: MIB2
hgvsc: ENST00000489635.1:c.204+74C>T
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000479659
gene symbol: MIB2
hgvsc: ENST00000479659.1:n.413C>T
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 19563
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 251
bin: 2.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28444
bin: 2.5e0
variant carriers: 0

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

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

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4553
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 588
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 425
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1748
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27953
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17825
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2122
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1976
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 521
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5960
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3256
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 76
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.012e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.98e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.51e0

DP
type: SiteQuality
SIO_000300: 2.99312e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000479659
gene symbol: MIB2
hgvsc: ENST00000479659.1:n.414G>A
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000428660
ensembl transcript: ENST00000520777
gene symbol: MIB2
hgvsc: ENST00000520777.1:c.450G>A
hgvsp: ENST00000520777.1:c.450G>A(p.%3D)
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 50
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 602
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 28691
bin: 2.5e0
variant carriers: 3

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

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

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

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

GenotypeDepth
all individuals: 19389
bin: 7.5e0
variant carriers: 15

GenotypeDepth
all individuals: 4463
bin: 1.25e1
variant carriers: 5

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

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 241
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 385
bin: 1.75e1
variant carriers: 3

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 28327
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 735
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1817
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1897
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1645
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 9
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 71
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 17937
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 475
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 1.232285890326556e-3
allele num: 3246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.033057851239669e-3
allele num: 5808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 74
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.01e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.682e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

FS
type: SiteQuality
SIO_000300: 1.074e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 2.97299e5

QD
type: SiteQuality
SIO_000300: 1.384e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000512004
gene symbol: MIB2
hgvsc: ENST00000512004.1:n.361+85C>G
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000426128
ensembl transcript: ENST00000504599
gene symbol: MIB2
hgvsc: ENST00000504599.1:c.157C>G
hgvsp: ENSP00000426128.1:p.Leu53Val
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 194
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3643
bin: 1.25e1
variant carriers: 1

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

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

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31108
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 444
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16665
bin: 7.5e0
variant carriers: 2

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

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2055
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14159
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29974
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2407
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 116
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2115
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 547
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.218278615794144e-4
allele num: 4508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2970
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 2.66688e5

QD
type: SiteQuality
SIO_000300: 8.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.21e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.42e0

FS
type: SiteQuality
SIO_000300: 5.293e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000367982
ensembl transcript: ENST00000378710
gene symbol: MIB2
hgvsc: ENST00000378710.3:c.289C>T
hgvsp: ENSP00000367982.3:p.Leu97Phe
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000479659
gene symbol: MIB2
hgvsc: ENST00000479659.1:n.424C>T
variant of: http://identifiers.org/hgnc/30577

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

GenotypeDepth
all individuals: 31108
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 16665
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 444
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3643
bin: 1.25e1
variant carriers: 1

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

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

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2407
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2055
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14159
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29974
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 116
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2115
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 547
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 2.336448598130841e-3
allele num: 428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2970
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 5.293e0

QD
type: SiteQuality
SIO_000300: 8.69e0

DP
type: SiteQuality
SIO_000300: 2.66688e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.21e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000507229
gene symbol: MIB2
hgvsc: ENST00000507229.1:n.489C>T
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000511502
gene symbol: MIB2
hgvsc: ENST00000511502.1:n.412C>T
variant of: http://identifiers.org/hgnc/30577

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

GenotypeDepth
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32700
bin: 2.5e0
variant carriers: 3

GenotypeDepth
all individuals: 362
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15113
bin: 7.5e0
variant carriers: 4

GenotypeDepth
all individuals: 3095
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 45
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 300
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 191
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31120
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2205
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 45
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2695
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2179
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 332
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12102
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 8.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3630
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 9.375e-3
allele num: 320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.375e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

FS
type: SiteQuality
SIO_000300: 5.777e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.398e1

DP
type: SiteQuality
SIO_000300: 2.49282e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.04e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000367984
ensembl transcript: ENST00000378712
gene symbol: MIB2
hgvsc: ENST00000378712.1:c.122G>A
hgvsp: ENSP00000367984.1:p.Arg41His
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000479659
gene symbol: MIB2
hgvsc: ENST00000479659.1:n.431G>A
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 33104
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14671
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 2898
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 178
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 347
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 296
bin: 1.75e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30986
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 10875
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2647
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2218
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3397
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3202
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 3.810975609756098e-4
allele num: 2624
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.23e-1

DP
type: SiteQuality
SIO_000300: 2.43288e5

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.917e0

QD
type: SiteQuality
SIO_000300: 4.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.56e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000479659
gene symbol: MIB2
hgvsc: ENST00000479659.1:n.435C>T
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000428660
ensembl transcript: ENST00000520777
gene symbol: MIB2
hgvsc: ENST00000520777.1:c.471C>T
hgvsp: ENST00000520777.1:c.471C>T(p.%3D)
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 33709
bin: 2.5e0
variant carriers: 3

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 265
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2702
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 14404
bin: 7.5e0
variant carriers: 8

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 2.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2832
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31894
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 11422
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2115
bin: 1.25e1
variant carriers: 3

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

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

GenotypeQuality
all individuals: 20
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 34
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 1.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.236245954692557e-4
allele num: 3090
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.178318931657502e-3
allele num: 2546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.31e-2

QD
type: SiteQuality
SIO_000300: 1.131e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.07e-1

DP
type: SiteQuality
SIO_000300: 2.39754e5

FS
type: SiteQuality
SIO_000300: 2.729e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000426128
ensembl transcript: ENST00000504599
gene symbol: MIB2
hgvsc: ENST00000504599.1:c.171C>T
hgvsp: ENST00000504599.1:c.171C>T(p.%3D)
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000512004
gene symbol: MIB2
hgvsc: ENST00000512004.1:n.361+99C>T
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000367984
ensembl transcript: ENST00000378712
gene symbol: MIB2
hgvsc: ENST00000378712.1:c.129C>T
hgvsp: ENST00000378712.1:c.129C>T(p.%3D)
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 13695
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 34480
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2488
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 235
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 4.75e1
variant carriers: 1

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

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

GenotypeDepth
all individuals: 175
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 48
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2149
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32332
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2143
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 352
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3001
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10563
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.571428571428571e-4
allele num: 2800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.530000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.579e0

VQSLOD
type: SiteQuality
SIO_000300: 8.1e-2

MQ
type: SiteQuality
SIO_000300: 5.76e1

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-1

DP
type: SiteQuality
SIO_000300: 2.31504e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e0

QD
type: SiteQuality
SIO_000300: 1.131e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000479659
gene symbol: MIB2
hgvsc: ENST00000479659.1:n.447G>A
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000426103
ensembl transcript: ENST00000505820
gene symbol: MIB2
hgvsc: ENST00000505820.2:c.483G>A
hgvsp: ENST00000505820.2:c.483G>A(p.%3D)
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000353713
ensembl transcript: ENST00000360522
gene symbol: MIB2
hgvsc: ENST00000360522.4:c.312G>A
hgvsp: ENST00000360522.4:c.312G>A(p.%3D)
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 154
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35680
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12822
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 266
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2087
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 1.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33335
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10022
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 14
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1832
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2027
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2942
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

African
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: 2298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2228
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.026e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.72e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.20183e5

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000428264
ensembl transcript: ENST00000518681
gene symbol: MIB2
hgvsc: ENST00000518681.1:c.489C>T
hgvsp: ENST00000518681.1:c.489C>T(p.%3D)
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000428660
ensembl transcript: ENST00000520777
gene symbol: MIB2
hgvsc: ENST00000520777.1:c.489C>T
hgvsp: ENST00000520777.1:c.489C>T(p.%3D)
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000511502
gene symbol: MIB2
hgvsc: ENST00000511502.1:n.435C>T
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1932
bin: 1.25e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36330
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12182
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 46
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33882
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1801
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9515
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1931
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2929
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 4.897159647404506e-4
allele num: 2042
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2026
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 7.246376811594203e-3
allele num: 138
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 2.13072e5

FS
type: SiteQuality
SIO_000300: 5.703e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

VQSLOD
type: SiteQuality
SIO_000300: -1.199e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.870000000000001e-2

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000479659
gene symbol: MIB2
hgvsc: ENST00000479659.1:n.454G>A
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000353713
ensembl transcript: ENST00000360522
gene symbol: MIB2
hgvsc: ENST00000360522.4:c.319G>A
hgvsp: ENSP00000353713.4:p.Asp107Asn
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000367984
ensembl transcript: ENST00000378712
gene symbol: MIB2
hgvsc: ENST00000378712.1:c.145G>A
hgvsp: ENSP00000367984.1:p.Asp49Asn
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36489
bin: 2.5e0
variant carriers: 1

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

GenotypeDepth
all individuals: 126
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1907
bin: 1.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 46
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12110
bin: 7.5e0
variant carriers: 2

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

GenotypeDepth
all individuals: 202
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2911
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1890
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1674
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 310
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9544
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34106
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1966
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2006
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 1.013e1

DP
type: SiteQuality
SIO_000300: 2.12512e5

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.93e-2

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000367984
ensembl transcript: ENST00000378712
gene symbol: MIB2
hgvsc: ENST00000378712.1:c.149G>A
hgvsp: ENSP00000367984.1:p.Arg50His
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000428660
ensembl transcript: ENST00000520777
gene symbol: MIB2
hgvsc: ENST00000520777.1:c.494G>A
hgvsp: ENSP00000428660.1:p.Arg165His
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000426007
ensembl transcript: ENST00000489635
gene symbol: MIB2
hgvsc: ENST00000489635.1:c.204+119G>A
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 45
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1836
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36863
bin: 2.5e0
variant carriers: 0

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

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

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11779
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34481
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9366
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1793
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3033
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.451e0

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

DP
type: SiteQuality
SIO_000300: 2.08828e5

QD
type: SiteQuality
SIO_000300: 3.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000420935
ensembl transcript: ENST00000514363
gene symbol: MIB2
hgvsc: ENST00000514363.1:c.163-143C>T
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000367980
ensembl transcript: ENST00000378708
gene symbol: MIB2
hgvsc: ENST00000378708.1:c.179C>T
hgvsp: ENSP00000367980.1:p.Thr60Met
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000424615
ensembl transcript: ENST00000487053
gene symbol: MIB2
hgvsc: ENST00000487053.1:c.221C>T
hgvsp: ENSP00000424615.1:p.Thr74Met
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 73
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39039
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 58
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 9581
bin: 7.5e0
variant carriers: 1

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

GenotypeDepth
all individuals: 867
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1798
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 35479
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5832
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2321
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3823
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1048
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 70
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.599999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.94e-1

QD
type: SiteQuality
SIO_000300: 9.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.77798e5

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000479659
gene symbol: MIB2
hgvsc: ENST00000479659.1:n.490C>T
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000426103
ensembl transcript: ENST00000505820
gene symbol: MIB2
hgvsc: ENST00000505820.2:c.526C>T
hgvsp: ENSP00000426103.2:p.Arg176Cys
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000424615
ensembl transcript: ENST00000487053
gene symbol: MIB2
hgvsc: ENST00000487053.1:c.223C>T
hgvsp: ENSP00000424615.1:p.Arg75Cys
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 68
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9698
bin: 7.5e0
variant carriers: 3

GenotypeDepth
all individuals: 39150
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 62
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 835
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 3.25e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6144
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3527
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2266
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1612
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35910
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 166
bin: 2.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1036
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 70
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.550000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.493e1

FS
type: SiteQuality
SIO_000300: 3.553e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.989e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 1.78329e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000428660
ensembl transcript: ENST00000520777
gene symbol: MIB2
hgvsc: ENST00000520777.1:c.543C>T
hgvsp: ENST00000520777.1:c.543C>T(p.%3D)
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000349741
ensembl transcript: ENST00000357210
gene symbol: MIB2
hgvsc: ENST00000357210.4:c.372C>T
hgvsp: ENST00000357210.4:c.372C>T(p.%3D)
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000426128
ensembl transcript: ENST00000504599
gene symbol: MIB2
hgvsc: ENST00000504599.1:c.240C>T
hgvsp: ENST00000504599.1:c.240C>T(p.%3D)
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 61
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 39550
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10503
bin: 7.5e0
variant carriers: 4

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 622
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 36337
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1702
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 78
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2333
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3363
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6730
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 76
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.266e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.834e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.42e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

DP
type: SiteQuality
SIO_000300: 1.80587e5

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000420935
ensembl transcript: ENST00000514363
gene symbol: MIB2
hgvsc: ENST00000514363.1:c.163-110C>T
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000426128
ensembl transcript: ENST00000504599
gene symbol: MIB2
hgvsc: ENST00000504599.1:c.254C>T
hgvsp: ENSP00000426128.1:p.Ala85Val
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000426103
ensembl transcript: ENST00000505820
gene symbol: MIB2
hgvsc: ENST00000505820.2:c.557C>T
hgvsp: ENSP00000426103.2:p.Ala186Val
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 669
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38822
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12662
bin: 7.5e0
variant carriers: 1

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

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

GenotypeDepth
all individuals: 55
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 35532
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8069
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2345
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3540
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2430
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 6.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 76
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.88e-1

DP
type: SiteQuality
SIO_000300: 1.93777e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.210000000000001e-2

FS
type: SiteQuality
SIO_000300: 2.158e0

VQSLOD
type: SiteQuality
SIO_000300: -2.162e0

MQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000512004
gene symbol: MIB2
hgvsc: ENST00000512004.1:n.362-106C>T
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000367984
ensembl transcript: ENST00000378712
gene symbol: MIB2
hgvsc: ENST00000378712.1:c.216C>T
hgvsp: ENST00000378712.1:c.216C>T(p.%3D)
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000479659
gene symbol: MIB2
hgvsc: ENST00000479659.1:n.525C>T
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 693
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 38352
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 2.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13840
bin: 7.5e0
variant carriers: 3

GenotypeDepth
all individuals: 64
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2577
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9358
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 35507
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2304
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2853
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 926
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 80
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 7.52e0

DP
type: SiteQuality
SIO_000300: 2.02158e5

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000508455
gene symbol: MIB2
hgvsc: ENST00000508455.1:n.103C>T
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000512004
gene symbol: MIB2
hgvsc: ENST00000512004.1:n.362-91C>T
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000420935
ensembl transcript: ENST00000514363
gene symbol: MIB2
hgvsc: ENST00000514363.1:c.163-91C>T
variant of: http://identifiers.org/hgnc/30577

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

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35650
bin: 2.5e0
variant carriers: 0

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

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

GenotypeDepth
all individuals: 17949
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 126
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 921
bin: 1.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 33609
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2185
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2323
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 12960
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3058
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 138
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.587155963302753e-3
allele num: 218
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.369999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.058e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.190000000000001e-2

DP
type: SiteQuality
SIO_000300: 2.28842e5

ClippingRankSum
type: SiteQuality
SIO_000300: -8.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000423221
ensembl transcript: ENST00000502470
gene symbol: MIB2
hgvsc: ENST00000502470.1:c.227+11G>T
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000426103
ensembl transcript: ENST00000505820
gene symbol: MIB2
hgvsc: ENST00000505820.2:c.583G>T
hgvsp: ENSP00000426103.2:p.Ala195Ser
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000507229
gene symbol: MIB2
hgvsc: ENST00000507229.1:n.606G>T
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 20247
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 152
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33798
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 17
bin: 3.25e1
variant carriers: 0

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

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

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

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

GenotypeDepth
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1085
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3108
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2016
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2186
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32056
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15273
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.808e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 2.43665e5

QD
type: SiteQuality
SIO_000300: 1.392e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.75e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000348081
ensembl transcript: ENST00000355826
gene symbol: MIB2
hgvsc: ENST00000355826.5:c.549C>T
hgvsp: ENST00000355826.5:c.549C>T(p.%3D)
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000367980
ensembl transcript: ENST00000378708
gene symbol: MIB2
hgvsc: ENST00000378708.1:c.246C>T
hgvsp: ENST00000378708.1:c.246C>T(p.%3D)
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000512004
gene symbol: MIB2
hgvsc: ENST00000512004.1:n.362-76C>T
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000367982
ensembl transcript: ENST00000378710
gene symbol: MIB2
hgvsc: ENST00000378710.3:c.420C>T
hgvsp: ENST00000378710.3:c.420C>T(p.%3D)
variant of: http://identifiers.org/hgnc/30577

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

GenotypeDepth
all individuals: 41
bin: 2.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 191
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22248
bin: 7.5e0
variant carriers: 2

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

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1344
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31926
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2158
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2098
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3516
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30440
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16723
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 223
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.263157894736842e-3
allele num: 190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1630
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.510000000000001e-2

DP
type: SiteQuality
SIO_000300: 2.58058e5

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.771e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

QD
type: SiteQuality
SIO_000300: 1.084e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000512004
gene symbol: MIB2
hgvsc: ENST00000512004.1:n.362-70G>A
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000420935
ensembl transcript: ENST00000514363
gene symbol: MIB2
hgvsc: ENST00000514363.1:c.163-70G>A
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000426865
ensembl transcript: ENST00000510793
gene symbol: MIB2
hgvsc: ENST00000510793.1:c.247+5G>A
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1601
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 24601
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 29665
bin: 2.5e0
variant carriers: 1

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

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

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

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 461
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 216
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1554
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19747
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3143
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28714
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1979
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 68
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2032
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.516e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.97e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.237e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 8.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 2.75375e5

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000512004
gene symbol: MIB2
hgvsc: ENST00000512004.1:n.362-68G>A
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000367982
ensembl transcript: ENST00000378710
gene symbol: MIB2
hgvsc: ENST00000378710.3:c.421+7G>A
variant of: http://identifiers.org/hgnc/30577

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000507229
gene symbol: MIB2
hgvsc: ENST00000507229.1:n.615+7G>A
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1783
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25627
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 1.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 28574
bin: 2.5e0
variant carriers: 0

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

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

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

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

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2708
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1557
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1877
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27925
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21182
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2160
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.026694045174538e-3
allele num: 974
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.84e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

VQSLOD
type: SiteQuality
SIO_000300: -2.177e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.531e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e0

DP
type: SiteQuality
SIO_000300: 2.84088e5

QD
type: SiteQuality
SIO_000300: 4.09e0

MQ
type: SiteQuality
SIO_000300: 5.685e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000425032
ensembl transcript: ENST00000506488
gene symbol: MIB2
hgvsc: ENST00000506488.1:c.247+10A>T
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1940
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27133
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 284
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 27100
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1732
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2144
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26879
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23470
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1144
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.505e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.48e-2

DP
type: SiteQuality
SIO_000300: 2.94832e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000511502
gene symbol: MIB2
hgvsc: ENST00000511502.1:n.538+18G>T
variant of: http://identifiers.org/hgnc/30577

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

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

GenotypeDepth
all individuals: 212
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 28148
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25518
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2475
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22043
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3750
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2104
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1296
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25985
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2980
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

DP
type: SiteQuality
SIO_000300: 3.0659e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.36e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.084e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 6.23e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000420935
ensembl transcript: ENST00000514363
gene symbol: MIB2
hgvsc: ENST00000514363.1:c.163-56C>T
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 297
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2719
bin: 1.25e1
variant carriers: 2

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

GenotypeDepth
all individuals: 28318
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 25130
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 1.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2059
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22522
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1777
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25705
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3196
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.363770250368188e-4
allele num: 1358
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.976190476190476e-3
allele num: 336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3080
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.465e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

DP
type: SiteQuality
SIO_000300: 3.11065e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.33e0

VQSLOD
type: SiteQuality
SIO_000300: -3.881e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.54e-2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000507229
gene symbol: MIB2
hgvsc: ENST00000507229.1:n.615+22G>C
variant of: http://identifiers.org/hgnc/30577

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

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

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 24145
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29004
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3002
bin: 1.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 266
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 316
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2213
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25251
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2841
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23586
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.785714285714286e-2
allele num: 56
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.18e-2

MQ
type: SiteQuality
SIO_000300: 5.635e1

MQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.324e1

VQSLOD
type: SiteQuality
SIO_000300: -6.463e-1

DP
type: SiteQuality
SIO_000300: 3.18456e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000428264
ensembl transcript: ENST00000518681
gene symbol: MIB2
hgvsc: ENST00000518681.1:c.592+24C>T
variant of: http://identifiers.org/hgnc/30577

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

GenotypeDepth
all individuals: 331
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29229
bin: 7.5e0
variant carriers: 7

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

GenotypeDepth
all individuals: 3283
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23522
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 305
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 23875
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24904
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 2351
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2292
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1558
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1688
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3722
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.17e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.808e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 1.743e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

MQ
type: SiteQuality
SIO_000300: 5.705e1

QD
type: SiteQuality
SIO_000300: 1.046e1

DP
type: SiteQuality
SIO_000300: 3.23283e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000353713
ensembl transcript: ENST00000360522
gene symbol: MIB2
hgvsc: ENST00000360522.4:c.421+25G>A
variant of: http://identifiers.org/hgnc/30577

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

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

GenotypeDepth
all individuals: 22973
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29640
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3466
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 93
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2161
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25573
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 138
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 366
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24600
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.401536983669548e-4
allele num: 4164
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1854
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.28885e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.06e-2

MQ
type: SiteQuality
SIO_000300: 5.787e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

QD
type: SiteQuality
SIO_000300: 1.355e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.381e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000348081
ensembl transcript: ENST00000355826
gene symbol: MIB2
hgvsc: ENST00000355826.5:c.550+35C>T
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 642
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22234
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 26912
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 38
bin: 3.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 83
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4903
bin: 1.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5412
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14363
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4860
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23762
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5045
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.192982456140351e-3
allele num: 456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4074
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

FS
type: SiteQuality
SIO_000300: 1.818e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.12e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

DP
type: SiteQuality
SIO_000300: 3.27104e5

VQSLOD
type: SiteQuality
SIO_000300: -1.488e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

QD
type: SiteQuality
SIO_000300: 8.619999999999999e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000511502
gene symbol: MIB2
hgvsc: ENST00000511502.1:n.538+37G>A
variant of: http://identifiers.org/hgnc/30577

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

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 279
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 27575
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4593
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22532
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 472
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 87
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2795
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4868
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17016
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4564
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 919
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24145
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 229
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.977066034005536e-4
allele num: 5058
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1708
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.401e1

MQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.82e-1

FS
type: SiteQuality
SIO_000300: 3.0084e1

DP
type: SiteQuality
SIO_000300: 3.26141e5

VQSLOD
type: SiteQuality
SIO_000300: -4.213e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.23e-2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000508455
gene symbol: MIB2
hgvsc: ENST00000508455.1:n.120-37G>A
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 27699
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4667
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22498
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 281
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 482
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24146
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17728
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2375
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4454
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4728
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5330
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.577287066246057e-3
allele num: 634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1854
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.08e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.408e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

MQ
type: SiteQuality
SIO_000300: 5.845e1

VQSLOD
type: SiteQuality
SIO_000300: -1.261e0

DP
type: SiteQuality
SIO_000300: 3.28446e5

FS
type: SiteQuality
SIO_000300: 5.738e0

QD
type: SiteQuality
SIO_000300: 1.245e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000508455
gene symbol: MIB2
hgvsc: ENST00000508455.1:n.120-35G>A
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 322
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4896
bin: 1.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 34
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 494
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 97
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22252
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28032
bin: 7.5e0
variant carriers: 4

GenotypeDepth
all individuals: 5
bin: 4.25e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 315
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1830
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4266
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20108
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24036
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3395
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 261
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1028
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2098
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5848
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

DP
type: SiteQuality
SIO_000300: 3.3477e5

FS
type: SiteQuality
SIO_000300: 2.702e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.37e-2

MQ
type: SiteQuality
SIO_000300: 5.705e1

VQSLOD
type: SiteQuality
SIO_000300: -8.359e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000353713
ensembl transcript: ENST00000360522
gene symbol: MIB2
hgvsc: ENST00000360522.4:c.422-35G>T
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 494
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 34
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4896
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 322
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22252
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28032
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 97
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4266
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20108
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1024
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24036
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3395
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1028
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2098
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.424501424501425e-3
allele num: 702
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.359e-1

MQ
type: SiteQuality
SIO_000300: 5.705e1

DP
type: SiteQuality
SIO_000300: 3.3477e5

QD
type: SiteQuality
SIO_000300: 9.02e0

FS
type: SiteQuality
SIO_000300: 2.702e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.37e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000348081
ensembl transcript: ENST00000355826
gene symbol: MIB2
hgvsc: ENST00000355826.5:c.551-34C>G
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 348
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 28603
bin: 7.5e0
variant carriers: 1

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

GenotypeDepth
all individuals: 567
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5057
bin: 1.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 21430
bin: 2.5e0
variant carriers: 2

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 3.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3642
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 34
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3246
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19835
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15904
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11576
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4132
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.72e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -9.398e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.39e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 3.38515e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000367984
ensembl transcript: ENST00000378712
gene symbol: MIB2
hgvsc: ENST00000378712.1:c.248-34C>T
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 79
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21430
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28603
bin: 7.5e0
variant carriers: 3

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

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

GenotypeDepth
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 567
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 348
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5057
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 15904
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3246
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3642
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19835
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11576
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4132
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 3.38515e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.398e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.39e-2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl transcript: ENST00000508455
gene symbol: MIB2
hgvsc: ENST00000508455.1:n.120-33G>A
variant of: http://identifiers.org/hgnc/30577

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

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

GenotypeDepth
all individuals: 33
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5475
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 684
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21183
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28960
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 435
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3750
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4196
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1579
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1825
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20874
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21558
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.448435689455388e-4
allele num: 6904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

FS
type: SiteQuality
SIO_000300: 3.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.24e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 3.52416e5

VQSLOD
type: SiteQuality
SIO_000300: -1.256e0

QD
type: SiteQuality
SIO_000300: 1.545e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000197530
ensembl protein: ENSP00000348081
ensembl transcript: ENST00000355826
gene symbol: MIB2
hgvsc: ENST00000355826.5:c.551-28C>T
variant of: http://identifiers.org/hgnc/30577

GenotypeDepth
all individuals: 6240
bin: 1.25e1
variant carriers: 5

GenotypeDepth
all individuals: 19402
bin: 2.5e0
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 30418
bin: 7.5e0
variant carriers: 8

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 730
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 726
bin: 1.75e1
variant carriers: 2

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

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

GenotypeDepth
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3370
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18128
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2678
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 650
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2268
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23983
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1680
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 144
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3720
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 29
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 19
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 8.613264427217916e-4
allele num: 2322
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 7.741935483870968e-4
allele num: 7750
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.11e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.0506e1

MQRankSum
type: SiteQuality
SIO_000300: -1.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

DP
type: SiteQuality
SIO_000300: 3.75768e5

VQSLOD
type: SiteQuality
SIO_000300: -8.859e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0