9-13122082-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122082
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122082
    reference: chr 9
allele count: 1
allele frequency: 8.307441806370146e-6
allele num: 120374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1614+4T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.5037+4T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4924+4T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.5037+4T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.5037+4T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1537+4T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1845+4T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*1072+4T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.203+4T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-151T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4938+4T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4938+4T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.5037+4T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.5079+4T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-151T>C
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24791
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.5037+4T>C
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

9-13122090-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122090
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122090
    reference: chr 9
allele count: 1
allele frequency: 8.30137304710199e-6
allele num: 120462
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1841T>C
  hgvsp: ENSP00000444230.1:p.Leu614Ser
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.5075T>C
  hgvsp: ENSP00000446358.1:p.Leu1692Ser
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4934T>C
  hgvsp: ENSP00000415208.1:p.Leu1645Ser
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*1068T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.5033T>C
  hgvsp: ENSP00000439807.1:p.Leu1678Ser
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4934T>C
  hgvsp: ENSP00000444151.1:p.Leu1645Ser
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1610T>C
  hgvsp: ENSP00000444717.1:p.Leu537Ser
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.5033T>C
  hgvsp: ENSP00000370403.4:p.Leu1678Ser
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.199T>C
  hgvsp: ENSP00000406902.2:p.Leu67Ser
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4920T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.5033T>C
  hgvsp: ENSP00000370410.2:p.Leu1678Ser
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.5033T>C
  hgvsp: ENSP00000320006.7:p.Leu1678Ser
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1533T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-159T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-159T>C
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1678Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/9-13122091-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122091
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122091
    reference: chr 9
allele count: 1
allele frequency: 8.301648707433296e-6
allele num: 120458
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.5032T>G
  hgvsp: ENSP00000370410.2:p.Leu1678Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.5032T>G
  hgvsp: ENSP00000439807.1:p.Leu1678Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.5032T>G
  hgvsp: ENSP00000370403.4:p.Leu1678Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.198T>G
  hgvsp: ENSP00000406902.2:p.Leu67Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-160T>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.5074T>G
  hgvsp: ENSP00000446358.1:p.Leu1692Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4933T>G
  hgvsp: ENSP00000415208.1:p.Leu1645Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1609T>G
  hgvsp: ENSP00000444717.1:p.Leu537Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1532T>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.5032T>G
  hgvsp: ENSP00000320006.7:p.Leu1678Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4933T>G
  hgvsp: ENSP00000444151.1:p.Leu1645Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1840T>G
  hgvsp: ENSP00000444230.1:p.Leu614Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-160T>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4919T>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*1067T>G
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1678Val
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum

9-13122092-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122092
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122092
    reference: chr 9
allele count: 12
allele frequency: 9.961151509114453e-5
allele num: 120468
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1531C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-161C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4932C>T
  hgvsp: ENST00000536827.1:c.4932C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.5031C>T
  hgvsp: ENST00000541718.1:c.5031C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-161C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.5073C>T
  hgvsp: ENST00000546205.1:c.5073C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.5031C>T
  hgvsp: ENST00000381015.4:c.5031C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4918C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1839C>T
  hgvsp: ENST00000545857.1:c.1839C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.197C>T
  hgvsp: ENST00000437441.2:c.197C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1608C>T
  hgvsp: ENST00000538841.1:c.1608C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4932C>T
  hgvsp: ENST00000447879.1:c.4932C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.5031C>T
  hgvsp: ENST00000319217.7:c.5031C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.5031C>T
  hgvsp: ENST00000381022.2:c.5031C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*1066C>T
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile1677Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS

9-13122093-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122093
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122093
    reference: chr 9
allele count: 1
allele frequency: 8.300270588821196e-6
allele num: 120478
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.5072T>A
  hgvsp: ENSP00000446358.1:p.Ile1691Asn
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4917T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*1065T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4931T>A
  hgvsp: ENSP00000444151.1:p.Ile1644Asn
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-162T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1838T>A
  hgvsp: ENSP00000444230.1:p.Ile613Asn
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.5030T>A
  hgvsp: ENSP00000370410.2:p.Ile1677Asn
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1607T>A
  hgvsp: ENSP00000444717.1:p.Ile536Asn
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1530T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4931T>A
  hgvsp: ENSP00000415208.1:p.Ile1644Asn
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.5030T>A
  hgvsp: ENSP00000439807.1:p.Ile1677Asn
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.196T>A
  hgvsp: ENSP00000406902.2:p.Ile66Asn
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.5030T>A
  hgvsp: ENSP00000320006.7:p.Ile1677Asn
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.5030T>A
  hgvsp: ENSP00000370403.4:p.Ile1677Asn
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-162T>A
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21270
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1677Asn
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/9-13122104-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122104
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122104
    reference: chr 9
allele count: 3
allele frequency: 2.488511372496972e-5
allele num: 120554
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1827T>G
  hgvsp: ENST00000545857.1:c.1827T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.5019T>G
  hgvsp: ENST00000541718.1:c.5019T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.5061T>G
  hgvsp: ENST00000546205.1:c.5061T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1596T>G
  hgvsp: ENST00000538841.1:c.1596T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.5019T>G
  hgvsp: ENST00000319217.7:c.5019T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4920T>G
  hgvsp: ENST00000447879.1:c.4920T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4906T>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.185T>G
  hgvsp: ENST00000437441.2:c.185T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1519T>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4920T>G
  hgvsp: ENST00000536827.1:c.4920T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.5019T>G
  hgvsp: ENST00000381015.4:c.5019T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-173T>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-173T>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.5019T>G
  hgvsp: ENST00000381022.2:c.5019T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*1054T>G
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21403
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1673Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

9-13122110-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122110
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122110
    reference: chr 9
allele count: 1
allele frequency: 8.295037908323241e-6
allele num: 120554
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1590C>T
  hgvsp: ENST00000538841.1:c.1590C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.179C>T
  hgvsp: ENST00000437441.2:c.179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-179C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.5055C>T
  hgvsp: ENST00000546205.1:c.5055C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1821C>T
  hgvsp: ENST00000545857.1:c.1821C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.5013C>T
  hgvsp: ENST00000541718.1:c.5013C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4914C>T
  hgvsp: ENST00000447879.1:c.4914C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*1048C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1513C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.5013C>T
  hgvsp: ENST00000381015.4:c.5013C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4914C>T
  hgvsp: ENST00000536827.1:c.4914C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4900C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.5013C>T
  hgvsp: ENST00000381022.2:c.5013C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-179C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.5013C>T
  hgvsp: ENST00000319217.7:c.5013C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1671Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

9-13122116-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122116
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122116
    reference: chr 9
allele count: 1
allele frequency: 8.29531314807134e-6
allele num: 120550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*1042A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.5007A>G
  hgvsp: ENST00000541718.1:c.5007A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.5007A>G
  hgvsp: ENST00000381022.2:c.5007A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-185A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4908A>G
  hgvsp: ENST00000536827.1:c.4908A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1815A>G
  hgvsp: ENST00000545857.1:c.1815A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.5049A>G
  hgvsp: ENST00000546205.1:c.5049A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.5007A>G
  hgvsp: ENST00000381015.4:c.5007A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1584A>G
  hgvsp: ENST00000538841.1:c.1584A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1507A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.173A>G
  hgvsp: ENST00000437441.2:c.173A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.5007A>G
  hgvsp: ENST00000319217.7:c.5007A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4894A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-185A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4908A>G
  hgvsp: ENST00000447879.1:c.4908A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly1669Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

9-13122129-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122129
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122129
    reference: chr 9
allele count: 4
allele frequency: 3.319336796508058e-5
allele num: 120506
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4895C>G
  hgvsp: ENSP00000444151.1:p.Ala1632Gly
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.160C>G
  hgvsp: ENSP00000406902.2:p.Ala54Gly
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1571C>G
  hgvsp: ENSP00000444717.1:p.Ala524Gly
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-198C>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1494C>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4895C>G
  hgvsp: ENSP00000415208.1:p.Ala1632Gly
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4881C>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4994C>G
  hgvsp: ENSP00000370403.4:p.Ala1665Gly
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4994C>G
  hgvsp: ENSP00000439807.1:p.Ala1665Gly
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-198C>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.5036C>G
  hgvsp: ENSP00000446358.1:p.Ala1679Gly
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4994C>G
  hgvsp: ENSP00000320006.7:p.Ala1665Gly
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4994C>G
  hgvsp: ENSP00000370410.2:p.Ala1665Gly
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*1029C>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1802C>G
  hgvsp: ENSP00000444230.1:p.Ala601Gly
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1665Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

9-13122130-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122130
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122130
    reference: chr 9
allele count: 5
allele frequency: 4.149653089001759e-5
allele num: 120492
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1570G>A
  hgvsp: ENSP00000444717.1:p.Ala524Thr
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.159G>A
  hgvsp: ENSP00000406902.2:p.Ala54Thr
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4993G>A
  hgvsp: ENSP00000370403.4:p.Ala1665Thr
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4993G>A
  hgvsp: ENSP00000439807.1:p.Ala1665Thr
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.5035G>A
  hgvsp: ENSP00000446358.1:p.Ala1679Thr
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4993G>A
  hgvsp: ENSP00000370410.2:p.Ala1665Thr
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1801G>A
  hgvsp: ENSP00000444230.1:p.Ala601Thr
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-199G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4993G>A
  hgvsp: ENSP00000320006.7:p.Ala1665Thr
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1493G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4894G>A
  hgvsp: ENSP00000444151.1:p.Ala1632Thr
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4894G>A
  hgvsp: ENSP00000415208.1:p.Ala1632Thr
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4880G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-199G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*1028G>A
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1665Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/9-13122136-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122136
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122136
    reference: chr 9
allele count: 2
allele frequency: 1.660660610790973e-5
allele num: 120434
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4987G>T
  hgvsp: ENSP00000320006.7:p.Gly1663Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-205G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1564G>T
  hgvsp: ENSP00000444717.1:p.Gly522Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4987G>T
  hgvsp: ENSP00000370410.2:p.Gly1663Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4888G>T
  hgvsp: ENSP00000415208.1:p.Gly1630Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4987G>T
  hgvsp: ENSP00000370403.4:p.Gly1663Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*1022G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.153G>T
  hgvsp: ENSP00000406902.2:p.Gly52Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.5029G>T
  hgvsp: ENSP00000446358.1:p.Gly1677Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4874G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1795G>T
  hgvsp: ENSP00000444230.1:p.Gly599Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4888G>T
  hgvsp: ENSP00000444151.1:p.Gly1630Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4987G>T
  hgvsp: ENSP00000439807.1:p.Gly1663Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-205G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1487G>T
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1663Ter
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

9-13122138-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122138
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122138
    reference: chr 9
allele count: 1
allele frequency: 8.306061763875276e-6
allele num: 120394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1562A>G
  hgvsp: ENSP00000444717.1:p.Glu521Gly
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.5027A>G
  hgvsp: ENSP00000446358.1:p.Glu1676Gly
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4886A>G
  hgvsp: ENSP00000415208.1:p.Glu1629Gly
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4886A>G
  hgvsp: ENSP00000444151.1:p.Glu1629Gly
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1793A>G
  hgvsp: ENSP00000444230.1:p.Glu598Gly
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.151A>G
  hgvsp: ENSP00000406902.2:p.Glu51Gly
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4985A>G
  hgvsp: ENSP00000439807.1:p.Glu1662Gly
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4985A>G
  hgvsp: ENSP00000370403.4:p.Glu1662Gly
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-207A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*1020A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-207A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4985A>G
  hgvsp: ENSP00000370410.2:p.Glu1662Gly
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4985A>G
  hgvsp: ENSP00000320006.7:p.Glu1662Gly
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4872A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1485A>G
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21557
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1662Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/9-13122139-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122139
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122139
    reference: chr 9
allele count: 2
allele frequency: 1.662427476601333e-5
allele num: 120306
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4984G>T
  hgvsp: ENSP00000439807.1:p.Glu1662Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.5026G>T
  hgvsp: ENSP00000446358.1:p.Glu1676Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-208G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1561G>T
  hgvsp: ENSP00000444717.1:p.Glu521Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4871G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4885G>T
  hgvsp: ENSP00000444151.1:p.Glu1629Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1792G>T
  hgvsp: ENSP00000444230.1:p.Glu598Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.150G>T
  hgvsp: ENSP00000406902.2:p.Glu51Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*1019G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4885G>T
  hgvsp: ENSP00000415208.1:p.Glu1629Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4984G>T
  hgvsp: ENSP00000370403.4:p.Glu1662Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4984G>T
  hgvsp: ENSP00000320006.7:p.Glu1662Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-208G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4984G>T
  hgvsp: ENSP00000370410.2:p.Glu1662Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1484G>T
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1662Ter
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

9-13122143-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122143
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122143
    reference: chr 9
allele count: 1
allele frequency: 8.311861025683651e-6
allele num: 120310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1480T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4980T>C
  hgvsp: ENST00000381022.2:c.4980T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4881T>C
  hgvsp: ENST00000536827.1:c.4881T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4881T>C
  hgvsp: ENST00000447879.1:c.4881T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1788T>C
  hgvsp: ENST00000545857.1:c.1788T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4980T>C
  hgvsp: ENST00000319217.7:c.4980T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-212T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1557T>C
  hgvsp: ENST00000538841.1:c.1557T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4980T>C
  hgvsp: ENST00000381015.4:c.4980T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.5022T>C
  hgvsp: ENST00000546205.1:c.5022T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4867T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*1015T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4980T>C
  hgvsp: ENST00000541718.1:c.4980T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.146T>C
  hgvsp: ENST00000437441.2:c.146T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-212T>C
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr1660Tyr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

9-13122148-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122148
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122148
    reference: chr 9
allele count: 2
allele frequency: 1.663755095249979e-5
allele num: 120210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*1010G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4876G>A
  hgvsp: ENSP00000444151.1:p.Val1626Ile
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-217G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-217G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4975G>A
  hgvsp: ENSP00000320006.7:p.Val1659Ile
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1475G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4876G>A
  hgvsp: ENSP00000415208.1:p.Val1626Ile
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4975G>A
  hgvsp: ENSP00000439807.1:p.Val1659Ile
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1552G>A
  hgvsp: ENSP00000444717.1:p.Val518Ile
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4862G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4975G>A
  hgvsp: ENSP00000370403.4:p.Val1659Ile
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4975G>A
  hgvsp: ENSP00000370410.2:p.Val1659Ile
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1783G>A
  hgvsp: ENSP00000444230.1:p.Val595Ile
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.5017G>A
  hgvsp: ENSP00000446358.1:p.Val1673Ile
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.141G>A
  hgvsp: ENSP00000406902.2:p.Val48Ile
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1659Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

9-13122149-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122149
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122149
    reference: chr 9
allele count: 1
allele frequency: 8.32209850035785e-6
allele num: 120162
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.5016A>G
  hgvsp: ENST00000546205.1:c.5016A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4861A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.140A>G
  hgvsp: ENST00000437441.2:c.140A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4875A>G
  hgvsp: ENST00000536827.1:c.4875A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1474A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4974A>G
  hgvsp: ENST00000541718.1:c.4974A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4875A>G
  hgvsp: ENST00000447879.1:c.4875A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1782A>G
  hgvsp: ENST00000545857.1:c.1782A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4974A>G
  hgvsp: ENST00000381015.4:c.4974A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-218A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4974A>G
  hgvsp: ENST00000381022.2:c.4974A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*1009A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1551A>G
  hgvsp: ENST00000538841.1:c.1551A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4974A>G
  hgvsp: ENST00000319217.7:c.4974A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-218A>G
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24088
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1658Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

9-13122153-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122153
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122153
    reference: chr 9
allele count: 1
allele frequency: 8.340979230961715e-6
allele num: 119890
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1470A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1547A>G
  hgvsp: ENSP00000444717.1:p.His516Arg
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4970A>G
  hgvsp: ENSP00000370403.4:p.His1657Arg
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4970A>G
  hgvsp: ENSP00000439807.1:p.His1657Arg
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*1005A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4970A>G
  hgvsp: ENSP00000370410.2:p.His1657Arg
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-222A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4857A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1778A>G
  hgvsp: ENSP00000444230.1:p.His593Arg
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.5012A>G
  hgvsp: ENSP00000446358.1:p.His1671Arg
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4871A>G
  hgvsp: ENSP00000415208.1:p.His1624Arg
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4970A>G
  hgvsp: ENSP00000320006.7:p.His1657Arg
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4871A>G
  hgvsp: ENSP00000444151.1:p.His1624Arg
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.136A>G
  hgvsp: ENSP00000406902.2:p.His46Arg
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-222A>G
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6507
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His1657Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

9-13122164-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122164
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122164
    reference: chr 9
allele count: 1
allele frequency: 8.39602364320258e-6
allele num: 119104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1459C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.125C>T
  hgvsp: ENST00000437441.2:c.125C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4959C>T
  hgvsp: ENST00000381022.2:c.4959C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.5001C>T
  hgvsp: ENST00000546205.1:c.5001C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4959C>T
  hgvsp: ENST00000541718.1:c.4959C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1536C>T
  hgvsp: ENST00000538841.1:c.1536C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1767C>T
  hgvsp: ENST00000545857.1:c.1767C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4860C>T
  hgvsp: ENST00000447879.1:c.4860C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-233C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4860C>T
  hgvsp: ENST00000536827.1:c.4860C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4959C>T
  hgvsp: ENST00000381015.4:c.4959C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4959C>T
  hgvsp: ENST00000319217.7:c.4959C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*994C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-233C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4846C>T
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21141
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1653Ala
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

9-13122172-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122172
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122172
    reference: chr 9
allele count: 36
allele frequency: 3.039462352881579e-4
allele num: 118442
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4954-3T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4841-3T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-241T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4996-3T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4855-3T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1531-3T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1454-3T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4954-3T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4954-3T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1762-3T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-241T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4954-3T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4855-3T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*989-3T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.120-3T>C
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20649
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: c.4954-3T>C
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

9-13122174-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122174
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122174
    reference: chr 9
allele count: 1
allele frequency: 8.45337120443633e-6
allele num: 118296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1762-5C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4855-5C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.120-5C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1531-5C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4954-5C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4954-5C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4841-5C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4954-5C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4855-5C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4954-5C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1454-5C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-243C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-243C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*989-5C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4996-5C>T
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20537
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.4954-5C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

9-13122179-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122179
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122179
    reference: chr 9
allele count: 1
allele frequency: 8.495310588555118e-6
allele num: 117712
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1531-10G>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4954-10G>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1762-10G>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4841-10G>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.120-10G>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4855-10G>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1454-10G>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4954-10G>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-248G>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4996-10G>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4954-10G>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4855-10G>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*989-10G>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4954-10G>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-248G>C
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19879
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

9-13122190-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122190
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122190
    reference: chr 9
allele count: 1
allele frequency: 8.560764305037153e-6
allele num: 116812
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4855-21A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1531-21A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-259A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1762-21A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4954-21A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4954-21A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4954-21A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-259A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.120-21A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*989-21A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4954-21A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4855-21A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4996-21A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4841-21A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1454-21A>G
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/9-13122192-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122192
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122192
    reference: chr 9
allele count: 1
allele frequency: 8.568539749455898e-6
allele num: 116706
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4954-23G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.120-23G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*989-23G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4996-23G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4954-23G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1454-23G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4841-23G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-261G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1531-23G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4855-23G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1762-23G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-261G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4855-23G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4954-23G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4954-23G>T
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/9-13122193-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122193
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122193
    reference: chr 9
allele count: 1
allele frequency: 8.584133088399403e-6
allele num: 116494
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4855-24G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1762-24G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4841-24G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.120-24G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4954-24G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4954-24G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4954-24G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*989-24G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4996-24G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1531-24G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-262G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-262G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4954-24G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4855-24G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1454-24G>T
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ

9-13122195-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122195
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122195
    reference: chr 9
allele count: 3
allele frequency: 2.573119478514452e-5
allele num: 116590
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4855-26T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-264T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1531-26T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4954-26T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4954-26T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4954-26T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4855-26T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4954-26T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1454-26T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1762-26T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4841-26T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-264T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.120-26T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4996-26T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*989-26T>C
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

9-13122197-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122197
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122197
    reference: chr 9
allele count: 1
allele frequency: 8.593280054996992e-6
allele num: 116370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4855-28T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4954-28T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-266T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-266T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1454-28T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4996-28T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.120-28T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4855-28T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4954-28T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4954-28T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1762-28T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4954-28T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1531-28T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4841-28T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*989-28T>A
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: A
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

9-13122202-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122202
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122202
    reference: chr 9
allele count: 1
allele frequency: 8.646629543803825e-6
allele num: 115652
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1454-33A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4954-33A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-271A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1531-33A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4954-33A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-271A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4855-33A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1762-33A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4954-33A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4855-33A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4841-33A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.120-33A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4996-33A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4954-33A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*989-33A>G
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10511
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

9-13122211-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122211
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122211
    reference: chr 9
allele count: 1
allele frequency: 8.747681864305959e-6
allele num: 114316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4855-42G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4954-42G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1454-42G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4996-42G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4841-42G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-280G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1531-42G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4954-42G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4954-42G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*989-42G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4954-42G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1762-42G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-280G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.120-42G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4855-42G>A
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11098
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

9-13122219-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13122219
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13122219
    reference: chr 9
allele count: 1
allele frequency: 8.877210425395924e-6
allele num: 112648
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1531-50A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4855-50A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4841-50A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1454-50A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.120-50A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4855-50A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1762-50A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4954-50A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-261-288A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.661-288A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4954-50A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4996-50A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4954-50A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4954-50A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*989-50A>G
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14702
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD

9-13123102-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123102
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123102
    reference: chr 9
allele count: 1
allele frequency: 8.674531575294935e-6
allele num: 115280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.119+50C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1761+50C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4953+50C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.660+50C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4840+50C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4953+50C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4854+50C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4953+50C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*988+50C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4953+50C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1530+50C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4854+50C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-262+50C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4995+50C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1453+50C>T
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17532
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: G
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

9-13123112-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123112
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123112
    reference: chr 9
allele count: 2
allele frequency: 1.728429203539823e-5
allele num: 115712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.119+40T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1530+40T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.660+40T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*988+40T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4854+40T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4953+40T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4840+40T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4995+40T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1761+40T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-262+40T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4953+40T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4953+40T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1453+40T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4854+40T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4953+40T>A
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23963
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8011
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

9-13123117-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123117
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123117
    reference: chr 9
allele count: 2
allele frequency: 1.72962501729625e-5
allele num: 115632
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4953+35G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4953+35G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*988+35G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4953+35G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-262+35G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.660+35G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1761+35G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4854+35G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4995+35G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1453+35G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4953+35G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1530+35G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4854+35G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4840+35G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.119+35G>A
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

9-13123118-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123118
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123118
    reference: chr 9
allele count: 1
allele frequency: 8.631255502425382e-6
allele num: 115858
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4840+34C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4953+34C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4953+34C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1761+34C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-262+34C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4995+34C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4953+34C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4953+34C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4854+34C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1453+34C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.660+34C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4854+34C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.119+34C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*988+34C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1530+34C>T
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26677
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

9-13123131-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123131
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123131
    reference: chr 9
allele count: 2
allele frequency: 1.710571330824495e-5
allele num: 116920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4953+21C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4840+21C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4854+21C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.660+21C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1530+21C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4953+21C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*988+21C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1761+21C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4953+21C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-262+21C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1453+21C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4995+21C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4854+21C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.119+21C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4953+21C>T
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/9-13123132-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123132
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123132
    reference: chr 9
allele count: 1
allele frequency: 8.552271483305966e-6
allele num: 116928
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.660+20G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4854+20G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1761+20G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4840+20G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.119+20G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4953+20G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4953+20G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-262+20G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1453+20G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4953+20G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4854+20G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4953+20G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1530+20G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4995+20G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*988+20G>T
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/9-13123133-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123133
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123133
    reference: chr 9
allele count: 1
allele frequency: 8.539709649871904e-6
allele num: 117100
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-262+19T>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.660+19T>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4953+19T>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4953+19T>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4840+19T>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4953+19T>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4854+19T>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1530+19T>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4953+19T>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4995+19T>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1453+19T>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4854+19T>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*988+19T>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1761+19T>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.119+19T>G
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

9-13123135-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123135
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123135
    reference: chr 9
allele count: 1
allele frequency: 8.534899202840414e-6
allele num: 117166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4953+17G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4995+17G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*988+17G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1453+17G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4840+17G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4953+17G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4953+17G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4854+17G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.660+17G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-262+17G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.119+17G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4854+17G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1761+17G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4953+17G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1530+17G>A
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16158
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum

9-13123138-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123138
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123137
    reference: chr 9
allele count: 1
allele frequency: 8.514116404999489e-6
allele num: 117452
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-262+13delC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4953+13delC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1761+13delC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1530+13delC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4840+13delC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4953+13delC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4854+13delC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4953+13delC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1453+13delC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4854+13delC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4953+13delC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.660+13delC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.119+13delC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*988+13delC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4995+13delC
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: TG
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

9-13123141-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123141
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123141
    reference: chr 9
allele count: 15
allele frequency: 1.274534794799898e-4
allele num: 117690
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-262+11C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.119+11C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.660+11C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1453+11C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4854+11C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1761+11C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4854+11C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4995+11C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*988+11C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4953+11C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4953+11C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1530+11C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4953+11C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4953+11C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4840+11C>T
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

9-13123142-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123142
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123143
    reference: chr 9
allele count: 1
allele frequency: 8.494733265375467e-6
allele num: 117720
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4854+9dupC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1530+9dupC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4840+9dupC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1761+9dupC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*988+9dupC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4953+9dupC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4953+9dupC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4995+9dupC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4854+9dupC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4953+9dupC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.660+9dupC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4953+9dupC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.119+9dupC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1453+9dupC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-262+9dupC
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

9-13123143-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123143
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123143
    reference: chr 9
allele count: 1
allele frequency: 8.490550017830155e-6
allele num: 117778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*988+9C>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4953+9C>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4953+9C>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1761+9C>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1530+9C>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.660+9C>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4854+9C>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4995+9C>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4854+9C>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1453+9C>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4953+9C>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4953+9C>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.119+9C>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-262+9C>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4840+9C>G
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

9-13123148-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123148
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123148
    reference: chr 9
allele count: 1
allele frequency: 8.462384700008463e-6
allele num: 118170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4953+4A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4854+4A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*988+4A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4854+4A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-262+4A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.119+4A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1761+4A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1453+4A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.660+4A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1530+4A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4995+4A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4953+4A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4953+4A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4953+4A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4840+4A>G
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.4953+4A>G
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/9-13123151-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123151
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123151
    reference: chr 9
allele count: 1
allele frequency: 8.443236123541432e-6
allele num: 118438
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*988+1G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.119+1G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4840+1G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4995+1G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1761+1G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4854+1G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.660+1G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4953+1G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1453+1G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4953+1G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4953+1G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4953+1G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-262+1G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4854+1G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1530+1G>T
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.4953+1G>T
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

9-13123156-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123156
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123156
    reference: chr 9
allele count: 7
allele frequency: 5.893148793588254e-5
allele num: 118782
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1757T>C
  hgvsp: ENSP00000444230.1:p.Leu586Pro
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4850T>C
  hgvsp: ENSP00000415208.1:p.Leu1617Pro
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4949T>C
  hgvsp: ENSP00000439807.1:p.Leu1650Pro
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4949T>C
  hgvsp: ENSP00000370410.2:p.Leu1650Pro
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4991T>C
  hgvsp: ENSP00000446358.1:p.Leu1664Pro
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.115T>C
  hgvsp: ENSP00000406902.2:p.Leu39Pro
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*984T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.656T>C
  hgvsp: ENSP00000415964.1:p.Leu219Pro
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4949T>C
  hgvsp: ENSP00000370403.4:p.Leu1650Pro
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-266T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4949T>C
  hgvsp: ENSP00000320006.7:p.Leu1650Pro
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4850T>C
  hgvsp: ENSP00000444151.1:p.Leu1617Pro
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1526T>C
  hgvsp: ENSP00000444717.1:p.Leu509Pro
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4836T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1449T>C
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu1650Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

9-13123156-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123156
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123156
    reference: chr 9
allele count: 6
allele frequency: 5.051270394504218e-5
allele num: 118782
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.115T>A
  hgvsp: ENSP00000406902.2:p.Leu39Gln
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4836T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4991T>A
  hgvsp: ENSP00000446358.1:p.Leu1664Gln
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4949T>A
  hgvsp: ENSP00000439807.1:p.Leu1650Gln
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4850T>A
  hgvsp: ENSP00000444151.1:p.Leu1617Gln
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4949T>A
  hgvsp: ENSP00000370403.4:p.Leu1650Gln
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.656T>A
  hgvsp: ENSP00000415964.1:p.Leu219Gln
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4850T>A
  hgvsp: ENSP00000415208.1:p.Leu1617Gln
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4949T>A
  hgvsp: ENSP00000370410.2:p.Leu1650Gln
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-266T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1757T>A
  hgvsp: ENSP00000444230.1:p.Leu586Gln
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1526T>A
  hgvsp: ENSP00000444717.1:p.Leu509Gln
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1449T>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4949T>A
  hgvsp: ENSP00000320006.7:p.Leu1650Gln
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*984T>A
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1650Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

9-13123158-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123158
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123158
    reference: chr 9
allele count: 8
allele frequency: 6.73015445704479e-5
allele num: 118868
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4848G>A
  hgvsp: ENST00000536827.1:c.4848G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4947G>A
  hgvsp: ENST00000541718.1:c.4947G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4848G>A
  hgvsp: ENST00000447879.1:c.4848G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4989G>A
  hgvsp: ENST00000546205.1:c.4989G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4947G>A
  hgvsp: ENST00000381015.4:c.4947G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-268G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.113G>A
  hgvsp: ENST00000437441.2:c.113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1447G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4947G>A
  hgvsp: ENST00000381022.2:c.4947G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4947G>A
  hgvsp: ENST00000319217.7:c.4947G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*982G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.654G>A
  hgvsp: ENST00000438511.1:c.654G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1524G>A
  hgvsp: ENST00000538841.1:c.1524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4834G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1755G>A
  hgvsp: ENST00000545857.1:c.1755G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 34230
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1649Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

9-13123159-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123159
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123159
    reference: chr 9
allele count: 6
allele frequency: 5.043627376809401e-5
allele num: 118962
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.112C>T
  hgvsp: ENSP00000406902.2:p.Thr38Met
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4946C>T
  hgvsp: ENSP00000370403.4:p.Thr1649Met
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4847C>T
  hgvsp: ENSP00000444151.1:p.Thr1616Met
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4946C>T
  hgvsp: ENSP00000320006.7:p.Thr1649Met
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4847C>T
  hgvsp: ENSP00000415208.1:p.Thr1616Met
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4946C>T
  hgvsp: ENSP00000439807.1:p.Thr1649Met
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1446C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1754C>T
  hgvsp: ENSP00000444230.1:p.Thr585Met
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.653C>T
  hgvsp: ENSP00000415964.1:p.Thr218Met
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4946C>T
  hgvsp: ENSP00000370410.2:p.Thr1649Met
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1523C>T
  hgvsp: ENSP00000444717.1:p.Thr508Met
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*981C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4988C>T
  hgvsp: ENSP00000446358.1:p.Thr1663Met
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4833C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-269C>T
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Thr1649Met
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

9-13123161-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123161
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123161
    reference: chr 9
allele count: 1
allele frequency: 8.402655239055541e-6
allele num: 119010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4845C>A
  hgvsp: ENSP00000444151.1:p.Asp1615Glu
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1521C>A
  hgvsp: ENSP00000444717.1:p.Asp507Glu
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-271C>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.651C>A
  hgvsp: ENSP00000415964.1:p.Asp217Glu
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4986C>A
  hgvsp: ENSP00000446358.1:p.Asp1662Glu
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1752C>A
  hgvsp: ENSP00000444230.1:p.Asp584Glu
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4944C>A
  hgvsp: ENSP00000320006.7:p.Asp1648Glu
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.110C>A
  hgvsp: ENSP00000406902.2:p.Asp37Glu
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4845C>A
  hgvsp: ENSP00000415208.1:p.Asp1615Glu
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4944C>A
  hgvsp: ENSP00000370403.4:p.Asp1648Glu
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4944C>A
  hgvsp: ENSP00000439807.1:p.Asp1648Glu
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4944C>A
  hgvsp: ENSP00000370410.2:p.Asp1648Glu
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*979C>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4831C>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1444C>A
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1648Glu
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: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

9-13123175-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123175
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123176
    reference: chr 9
allele count: 4
allele frequency: 3.359029912161368e-5
allele num: 119082
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4830dupC
  hgvsp: ENSP00000415208.1:p.Val1611ArgfsTer15
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4971dupC
  hgvsp: ENSP00000446358.1:p.Val1658ArgfsTer15
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4929dupC
  hgvsp: ENSP00000320006.7:p.Val1644ArgfsTer15
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.95dupC
  hgvsp: ENSP00000406902.2:p.Val33ArgfsTer15
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4929dupC
  hgvsp: ENSP00000370410.2:p.Val1644ArgfsTer15
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1506dupC
  hgvsp: ENSP00000444717.1:p.Val503ArgfsTer15
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4929dupC
  hgvsp: ENSP00000370403.4:p.Val1644ArgfsTer15
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-286dupC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1737dupC
  hgvsp: ENSP00000444230.1:p.Val580ArgfsTer15
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.636dupC
  hgvsp: ENSP00000415964.1:p.Val213ArgfsTer13
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4816dupC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4929dupC
  hgvsp: ENSP00000439807.1:p.Val1644ArgfsTer15
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4830dupC
  hgvsp: ENSP00000444151.1:p.Val1611ArgfsTer15
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1429dupC
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*964dupC
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1644ArgfsTer15
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

9-13123175-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123175
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123175
    reference: chr 9
allele count: 3
allele frequency: 2.519272434121026e-5
allele num: 119082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.96G>A
  hgvsp: ENSP00000406902.2:p.Val33Ile
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1507G>A
  hgvsp: ENSP00000444717.1:p.Val503Ile
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4930G>A
  hgvsp: ENSP00000370403.4:p.Val1644Ile
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4930G>A
  hgvsp: ENSP00000320006.7:p.Val1644Ile
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*965G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4831G>A
  hgvsp: ENSP00000444151.1:p.Val1611Ile
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1738G>A
  hgvsp: ENSP00000444230.1:p.Val580Ile
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-285G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1430G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4831G>A
  hgvsp: ENSP00000415208.1:p.Val1611Ile
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4930G>A
  hgvsp: ENSP00000439807.1:p.Val1644Ile
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4930G>A
  hgvsp: ENSP00000370410.2:p.Val1644Ile
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4972G>A
  hgvsp: ENSP00000446358.1:p.Val1658Ile
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4817G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.637G>A
  hgvsp: ENSP00000415964.1:p.Val213Ile
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18901
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1644Ile
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

9-13123176-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123176
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123176
    reference: chr 9
allele count: 3
allele frequency: 2.518891687657431e-5
allele num: 119100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4830C>T
  hgvsp: ENST00000536827.1:c.4830C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4929C>T
  hgvsp: ENST00000381022.2:c.4929C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1429C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4929C>T
  hgvsp: ENST00000541718.1:c.4929C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4971C>T
  hgvsp: ENST00000546205.1:c.4971C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4929C>T
  hgvsp: ENST00000381015.4:c.4929C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.636C>T
  hgvsp: ENST00000438511.1:c.636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.95C>T
  hgvsp: ENST00000437441.2:c.95C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1737C>T
  hgvsp: ENST00000545857.1:c.1737C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1506C>T
  hgvsp: ENST00000538841.1:c.1506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4929C>T
  hgvsp: ENST00000319217.7:c.4929C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4816C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4830C>T
  hgvsp: ENST00000447879.1:c.4830C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-286C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*964C>T
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18979
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1643Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

9-13123186-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123186
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123186
    reference: chr 9
allele count: 1
allele frequency: 8.407035006893769e-6
allele num: 118948
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1727G>C
  hgvsp: ENSP00000444230.1:p.Gly576Ala
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4919G>C
  hgvsp: ENSP00000370410.2:p.Gly1640Ala
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.85G>C
  hgvsp: ENSP00000406902.2:p.Gly29Ala
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4919G>C
  hgvsp: ENSP00000320006.7:p.Gly1640Ala
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4806G>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.626G>C
  hgvsp: ENSP00000415964.1:p.Gly209Ala
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4820G>C
  hgvsp: ENSP00000444151.1:p.Gly1607Ala
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1496G>C
  hgvsp: ENSP00000444717.1:p.Gly499Ala
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*954G>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4961G>C
  hgvsp: ENSP00000446358.1:p.Gly1654Ala
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4919G>C
  hgvsp: ENSP00000439807.1:p.Gly1640Ala
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4820G>C
  hgvsp: ENSP00000415208.1:p.Gly1607Ala
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-296G>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4919G>C
  hgvsp: ENSP00000370403.4:p.Gly1640Ala
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1419G>C
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1640Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ

9-13123190-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123190
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123190
    reference: chr 9
allele count: 1
allele frequency: 8.426445556735258e-6
allele num: 118674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4816C>T
  hgvsp: ENST00000447879.1:c.4816C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4915C>T
  hgvsp: ENST00000381022.2:c.4915C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4957C>T
  hgvsp: ENST00000546205.1:c.4957C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1723C>T
  hgvsp: ENST00000545857.1:c.1723C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4915C>T
  hgvsp: ENST00000381015.4:c.4915C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4915C>T
  hgvsp: ENST00000541718.1:c.4915C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4915C>T
  hgvsp: ENST00000319217.7:c.4915C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.81C>T
  hgvsp: ENST00000437441.2:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4816C>T
  hgvsp: ENST00000536827.1:c.4816C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1492C>T
  hgvsp: ENST00000538841.1:c.1492C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4802C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.622C>T
  hgvsp: ENST00000438511.1:c.622C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*950C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1415C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-300C>T
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1639Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS

9-13123196-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123196
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123196
    reference: chr 9
allele count: 5
allele frequency: 4.214643356879141e-5
allele num: 118634
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.616A>G
  hgvsp: ENSP00000415964.1:p.Thr206Ala
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1409A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4810A>G
  hgvsp: ENSP00000415208.1:p.Thr1604Ala
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4909A>G
  hgvsp: ENSP00000320006.7:p.Thr1637Ala
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4810A>G
  hgvsp: ENSP00000444151.1:p.Thr1604Ala
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4909A>G
  hgvsp: ENSP00000370410.2:p.Thr1637Ala
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.75A>G
  hgvsp: ENSP00000406902.2:p.Thr26Ala
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4909A>G
  hgvsp: ENSP00000370403.4:p.Thr1637Ala
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1717A>G
  hgvsp: ENSP00000444230.1:p.Thr573Ala
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4951A>G
  hgvsp: ENSP00000446358.1:p.Thr1651Ala
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1486A>G
  hgvsp: ENSP00000444717.1:p.Thr496Ala
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4909A>G
  hgvsp: ENSP00000439807.1:p.Thr1637Ala
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-306A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*944A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4796A>G
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1637Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

9-13123198-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123198
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123198
    reference: chr 9
allele count: 2
allele frequency: 1.6875073828448e-5
allele num: 118518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4907G>A
  hgvsp: ENSP00000370403.4:p.Arg1636Gln
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4949G>A
  hgvsp: ENSP00000446358.1:p.Arg1650Gln
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.614G>A
  hgvsp: ENSP00000415964.1:p.Arg205Gln
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4907G>A
  hgvsp: ENSP00000320006.7:p.Arg1636Gln
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4808G>A
  hgvsp: ENSP00000415208.1:p.Arg1603Gln
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4907G>A
  hgvsp: ENSP00000439807.1:p.Arg1636Gln
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1715G>A
  hgvsp: ENSP00000444230.1:p.Arg572Gln
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1407G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4907G>A
  hgvsp: ENSP00000370410.2:p.Arg1636Gln
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4794G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1484G>A
  hgvsp: ENSP00000444717.1:p.Arg495Gln
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4808G>A
  hgvsp: ENSP00000444151.1:p.Arg1603Gln
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-308G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*942G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.73G>A
  hgvsp: ENSP00000406902.2:p.Arg25Gln
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19328
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1636Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

9-13123205-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123205
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123205
    reference: chr 9
allele count: 2
allele frequency: 1.694599311992679e-5
allele num: 118022
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4942A>G
  hgvsp: ENSP00000446358.1:p.Lys1648Glu
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-315A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.607A>G
  hgvsp: ENSP00000415964.1:p.Lys203Glu
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1400A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4900A>G
  hgvsp: ENSP00000370403.4:p.Lys1634Glu
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.66A>G
  hgvsp: ENSP00000406902.2:p.Lys23Glu
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1477A>G
  hgvsp: ENSP00000444717.1:p.Lys493Glu
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4900A>G
  hgvsp: ENSP00000320006.7:p.Lys1634Glu
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4801A>G
  hgvsp: ENSP00000444151.1:p.Lys1601Glu
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4801A>G
  hgvsp: ENSP00000415208.1:p.Lys1601Glu
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*935A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4787A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4900A>G
  hgvsp: ENSP00000439807.1:p.Lys1634Glu
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4900A>G
  hgvsp: ENSP00000370410.2:p.Lys1634Glu
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1708A>G
  hgvsp: ENSP00000444230.1:p.Lys570Glu
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19357
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys1634Glu
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

9-13123211-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123211
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123211
    reference: chr 9
allele count: 3
allele frequency: 2.555845218013597e-5
allele num: 117378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1471A>G
  hgvsp: ENSP00000444717.1:p.Ile491Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4936A>G
  hgvsp: ENSP00000446358.1:p.Ile1646Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1394A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4894A>G
  hgvsp: ENSP00000370410.2:p.Ile1632Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4795A>G
  hgvsp: ENSP00000444151.1:p.Ile1599Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1702A>G
  hgvsp: ENSP00000444230.1:p.Ile568Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4894A>G
  hgvsp: ENSP00000370403.4:p.Ile1632Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.601A>G
  hgvsp: ENSP00000415964.1:p.Ile201Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4894A>G
  hgvsp: ENSP00000439807.1:p.Ile1632Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*929A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.60A>G
  hgvsp: ENSP00000406902.2:p.Ile21Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4795A>G
  hgvsp: ENSP00000415208.1:p.Ile1599Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-321A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4781A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4894A>G
  hgvsp: ENSP00000320006.7:p.Ile1632Val
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1632Val
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/9-13123214-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123214
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123214
    reference: chr 9
allele count: 1
allele frequency: 8.539855505644844e-6
allele num: 117098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1699G>T
  hgvsp: ENSP00000444230.1:p.Glu567Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*926G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4792G>T
  hgvsp: ENSP00000415208.1:p.Glu1598Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4792G>T
  hgvsp: ENSP00000444151.1:p.Glu1598Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4778G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4933G>T
  hgvsp: ENSP00000446358.1:p.Glu1645Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4891G>T
  hgvsp: ENSP00000370410.2:p.Glu1631Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1468G>T
  hgvsp: ENSP00000444717.1:p.Glu490Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4891G>T
  hgvsp: ENSP00000439807.1:p.Glu1631Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-324G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.598G>T
  hgvsp: ENSP00000415964.1:p.Glu200Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.57G>T
  hgvsp: ENSP00000406902.2:p.Glu20Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1391G>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4891G>T
  hgvsp: ENSP00000320006.7:p.Glu1631Ter
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4891G>T
  hgvsp: ENSP00000370403.4:p.Glu1631Ter
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30709
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1631Ter
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

9-13123214-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123214
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123214
    reference: chr 9
allele count: 1
allele frequency: 8.539855505644844e-6
allele num: 117098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.57G>A
  hgvsp: ENSP00000406902.2:p.Glu20Lys
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4891G>A
  hgvsp: ENSP00000439807.1:p.Glu1631Lys
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1468G>A
  hgvsp: ENSP00000444717.1:p.Glu490Lys
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4778G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4891G>A
  hgvsp: ENSP00000320006.7:p.Glu1631Lys
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1391G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-324G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4792G>A
  hgvsp: ENSP00000415208.1:p.Glu1598Lys
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.598G>A
  hgvsp: ENSP00000415964.1:p.Glu200Lys
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1699G>A
  hgvsp: ENSP00000444230.1:p.Glu567Lys
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4792G>A
  hgvsp: ENSP00000444151.1:p.Glu1598Lys
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4891G>A
  hgvsp: ENSP00000370403.4:p.Glu1631Lys
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4891G>A
  hgvsp: ENSP00000370410.2:p.Glu1631Lys
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*926G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4933G>A
  hgvsp: ENSP00000446358.1:p.Glu1645Lys
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1631Lys
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

9-13123217-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123217
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123217
    reference: chr 9
allele count: 2
allele frequency: 1.715118771974959e-5
allele num: 116610
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1696A>G
  hgvsp: ENSP00000444230.1:p.Ile566Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.595A>G
  hgvsp: ENSP00000415964.1:p.Ile199Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-327A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4888A>G
  hgvsp: ENSP00000370403.4:p.Ile1630Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4789A>G
  hgvsp: ENSP00000444151.1:p.Ile1597Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4789A>G
  hgvsp: ENSP00000415208.1:p.Ile1597Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4888A>G
  hgvsp: ENSP00000320006.7:p.Ile1630Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4888A>G
  hgvsp: ENSP00000370410.2:p.Ile1630Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1388A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.54A>G
  hgvsp: ENSP00000406902.2:p.Ile19Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4888A>G
  hgvsp: ENSP00000439807.1:p.Ile1630Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1465A>G
  hgvsp: ENSP00000444717.1:p.Ile489Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4775A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*923A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4930A>G
  hgvsp: ENSP00000446358.1:p.Ile1644Val
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1630Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

9-13123226-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123226
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123226
    reference: chr 9
allele count: 1
allele frequency: 8.69187309865276e-6
allele num: 115050
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4780G>A
  hgvsp: ENSP00000415208.1:p.Glu1594Lys
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1379G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4879G>A
  hgvsp: ENSP00000370410.2:p.Glu1627Lys
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1687G>A
  hgvsp: ENSP00000444230.1:p.Glu563Lys
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1456G>A
  hgvsp: ENSP00000444717.1:p.Glu486Lys
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.586G>A
  hgvsp: ENSP00000415964.1:p.Glu196Lys
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4921G>A
  hgvsp: ENSP00000446358.1:p.Glu1641Lys
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4879G>A
  hgvsp: ENSP00000370403.4:p.Glu1627Lys
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*914G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4879G>A
  hgvsp: ENSP00000320006.7:p.Glu1627Lys
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4879G>A
  hgvsp: ENSP00000439807.1:p.Glu1627Lys
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4766G>A
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4780G>A
  hgvsp: ENSP00000444151.1:p.Glu1594Lys
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.45G>A
  hgvsp: ENSP00000406902.2:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-336G>A
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu1627Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

9-13123227-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123227
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123227
    reference: chr 9
allele count: 7
allele frequency: 6.093526933389045e-5
allele num: 114876
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4878C>T
  hgvsp: ENST00000541718.1:c.4878C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1455C>T
  hgvsp: ENST00000538841.1:c.1455C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.585C>T
  hgvsp: ENST00000438511.1:c.585C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4878C>T
  hgvsp: ENST00000381015.4:c.4878C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.44C>T
  hgvsp: ENST00000437441.2:c.44C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4765C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4920C>T
  hgvsp: ENST00000546205.1:c.4920C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4779C>T
  hgvsp: ENST00000447879.1:c.4779C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*913C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4779C>T
  hgvsp: ENST00000536827.1:c.4779C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1686C>T
  hgvsp: ENST00000545857.1:c.1686C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4878C>T
  hgvsp: ENST00000381022.2:c.4878C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4878C>T
  hgvsp: ENST00000319217.7:c.4878C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-337C>T
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1378C>T
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys1626Cys
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS

9-13123229-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123229
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123229
    reference: chr 9
allele count: 1
allele frequency: 8.744316194473592e-6
allele num: 114360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.583T>C
  hgvsp: ENSP00000415964.1:p.Cys195Arg
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4876T>C
  hgvsp: ENSP00000320006.7:p.Cys1626Arg
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.42T>C
  hgvsp: ENSP00000406902.2:p.Cys15Arg
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4777T>C
  hgvsp: ENSP00000415208.1:p.Cys1593Arg
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4918T>C
  hgvsp: ENSP00000446358.1:p.Cys1640Arg
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4777T>C
  hgvsp: ENSP00000444151.1:p.Cys1593Arg
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4876T>C
  hgvsp: ENSP00000370410.2:p.Cys1626Arg
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4876T>C
  hgvsp: ENSP00000439807.1:p.Cys1626Arg
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*911T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-339T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1684T>C
  hgvsp: ENSP00000444230.1:p.Cys562Arg
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4876T>C
  hgvsp: ENSP00000370403.4:p.Cys1626Arg
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1453T>C
  hgvsp: ENSP00000444717.1:p.Cys485Arg
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1376T>C
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4763T>C
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Cys1626Arg
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

9-13123241-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123241
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123241
    reference: chr 9
allele count: 6
allele frequency: 5.413403587282111e-5
allele num: 110836
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444230
  ensembl transcript: ENST00000545857
  gene symbol: MPDZ
  hgvsc: ENST00000545857.1:c.1672A>G
  hgvsp: ENSP00000444230.1:p.Ile558Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4864A>G
  hgvsp: ENSP00000370410.2:p.Ile1622Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444717
  ensembl transcript: ENST00000538841
  gene symbol: MPDZ
  hgvsc: ENST00000538841.1:c.1441A>G
  hgvsp: ENSP00000444717.1:p.Ile481Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000406902
  ensembl transcript: ENST00000437441
  gene symbol: MPDZ
  hgvsc: ENST00000437441.2:c.30A>G
  hgvsp: ENSP00000406902.2:p.Ile11Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000439807
  ensembl transcript: ENST00000541718
  gene symbol: MPDZ
  hgvsc: ENST00000541718.1:c.4864A>G
  hgvsp: ENSP00000439807.1:p.Ile1622Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000319198
  gene symbol: MPDZ
  hgvsc: ENST00000319198.6:n.1364A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000446358
  ensembl transcript: ENST00000546205
  gene symbol: MPDZ
  hgvsc: ENST00000546205.1:c.4906A>G
  hgvsp: ENSP00000446358.1:p.Ile1636Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000437651
  ensembl transcript: ENST00000542806
  gene symbol: MPDZ
  hgvsc: ENST00000542806.1:c.*899A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415208
  ensembl transcript: ENST00000447879
  gene symbol: MPDZ
  hgvsc: ENST00000447879.1:c.4765A>G
  hgvsp: ENSP00000415208.1:p.Ile1589Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000320006
  ensembl transcript: ENST00000319217
  gene symbol: MPDZ
  hgvsc: ENST00000319217.7:c.4864A>G
  hgvsp: ENSP00000320006.7:p.Ile1622Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000444151
  ensembl transcript: ENST00000536827
  gene symbol: MPDZ
  hgvsc: ENST00000536827.1:c.4765A>G
  hgvsp: ENSP00000444151.1:p.Ile1589Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-351A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107186
  ensembl transcript: ENST00000539508
  gene symbol: MPDZ
  hgvsc: ENST00000539508.1:n.4751A>G
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000415964
  ensembl transcript: ENST00000438511
  gene symbol: MPDZ
  hgvsc: ENST00000438511.1:c.571A>G
  hgvsp: ENSP00000415964.1:p.Ile191Val
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370403
  ensembl transcript: ENST00000381015
  gene symbol: MPDZ
  hgvsc: ENST00000381015.4:c.4864A>G
  hgvsp: ENSP00000370403.4:p.Ile1622Val
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4846
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1622Val
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP

9-13123242-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13123242
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 13123242
    reference: chr 9
allele count: 4
allele frequency: 3.611412062116287e-5
allele num: 110760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000370410
  ensembl transcript: ENST00000381022
  gene symbol: MPDZ
  hgvsc: ENST00000381022.2:c.4863C>T
  hgvsp: ENST00000381022.2:c.4863C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000107186
  ensembl protein: ENSP00000445259
  ensembl transcript: ENST00000541093
  gene symbol: MPDZ
  hgvsc: ENST00000541093.1:c.-352C>T
  variant of: http://identifiers.org/hgnc/7208
canonical: true
consequence: synonymous
filter: PASS
hgvs: p.Pro1621Pro
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 240
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1062
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 182
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6487
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21118
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 323
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2301
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 679
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1177
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1961
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40515
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4886
bin: 9.75e1
variant carriers: 1

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

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

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

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

GenotypeQuality
all individuals: 123
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2266
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1475
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6994
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 3.75e1
variant carriers: 0

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

South Asian
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allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66524
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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MQ
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MQRankSum
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SIO_000300: 1.04e-1

ClippingRankSum
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SIO_000300: -7.96e-1

FS
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DP
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VQSLOD
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InbreedingCoeff
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QD
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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MQRankSum
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FS
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ClippingRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

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

Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502133028901039e-5
allele num: 66572
num of homozygotes: 0

QD
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SIO_000300: 1.275e1

ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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SIO_000300: 3.15e-1

FS
type: SiteQuality
SIO_000300: 5.617e0

MQ
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SIO_000300: 6.0e1

DP
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SIO_000300: 1.776754e6

ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 4
allele frequency: 6.05143721633888e-4
allele num: 6610
num of homozygotes: 0

Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.201562030639832e-4
allele num: 66580
num of homozygotes: 0

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

South Asian
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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DP
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ClippingRankSum
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QD
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66586
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European (Finnish)
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Latino
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South Asian
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Other
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FS
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QD
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VQSLOD
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ReadPosRankSum
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MQ
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 4.502611514678514e-5
allele num: 66628
num of homozygotes: 0

South Asian
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Other
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East Asian
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Latino
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African
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European (Finnish)
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ReadPosRankSum
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ClippingRankSum
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FS
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DP
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MQ
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 1.021659174499387e-4
allele num: 9788
num of homozygotes: 0

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

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

VQSLOD
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MQ
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ReadPosRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: -5.031e0

QD
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ClippingRankSum
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SIO_000300: -2.249e0

DP
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MQRankSum
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GenotypeDepth
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variant carriers: 0

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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MQRankSum
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SIO_000300: -9.11e-1

QD
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FS
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MQ
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InbreedingCoeff
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DP
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: -8.32e-1

BaseQRankSum
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SIO_000300: 9.58e-1

VQSLOD
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 2.428068471530897e-4
allele num: 16474
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.778443e6

FS
type: SiteQuality
SIO_000300: 1.243e0

MQRankSum
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SIO_000300: 5.71e-1

QD
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SIO_000300: 1.15e1

BaseQRankSum
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SIO_000300: -1.441e0

VQSLOD
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SIO_000300: 5.12e-1

ClippingRankSum
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SIO_000300: 1.01e0

InbreedingCoeff
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SIO_000300: 1.3e-3

ReadPosRankSum
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SIO_000300: -5.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

African
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Other
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South Asian
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allele num: 16472
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.002642325246217e-5
allele num: 66608
num of homozygotes: 0

InbreedingCoeff
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DP
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QD
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FS
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VQSLOD
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MQ
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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European (Finnish)
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African
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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FS
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MQ
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InbreedingCoeff
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QD
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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ReadPosRankSum
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MQ
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InbreedingCoeff
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QD
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BaseQRankSum
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VQSLOD
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FS
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MQRankSum
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.006976184748617e-5
allele num: 66512
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.739e0

VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -2.068e0

InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
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ReadPosRankSum
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QD
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ClippingRankSum
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MQRankSum
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SIO_000300: -2.35e-1

DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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African
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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InbreedingCoeff
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FS
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MQRankSum
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DP
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ReadPosRankSum
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MQ
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66458
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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Other
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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FS
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DP
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MQ
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 11506
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East Asian
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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Other
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MQRankSum
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DP
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MQ
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QD
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ClippingRankSum
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FS
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

East Asian
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Other
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South Asian
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European (Non-Finnish)
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Latino
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African
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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FS
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DP
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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European (Non-Finnish)
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Latino
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South Asian
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East Asian
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European (Finnish)
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ReadPosRankSum
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BaseQRankSum
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QD
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MQRankSum
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DP
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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FS
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 1
allele frequency: 8.823010411152286e-5
allele num: 11334
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9648
num of homozygotes: 0

European (Non-Finnish)
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allele count: 14
allele frequency: 2.138318670576735e-4
allele num: 65472
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

South Asian
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allele count: 21
allele frequency: 1.297898640296662e-3
allele num: 16180
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 1.4e-2

DP
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FS
type: SiteQuality
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MQ
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QD
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SIO_000300: 1.42e1

ReadPosRankSum
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BaseQRankSum
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VQSLOD
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SIO_000300: 4.35e0

MQRankSum
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SIO_000300: 1.61e-1

ClippingRankSum
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SIO_000300: -3.34e-1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529145513487063e-5
allele num: 65396
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16152
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.349e0

DP
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SIO_000300: 1.719258e6

MQ
type: SiteQuality
SIO_000300: 5.718e1

ReadPosRankSum
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SIO_000300: -2.31e-1

MQRankSum
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QD
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InbreedingCoeff
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SIO_000300: 1.9e-3

VQSLOD
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ClippingRankSum
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SIO_000300: 2.83e-1

BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.211951795254069e-5
allele num: 16098
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65074
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9590
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 6.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

DP
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SIO_000300: 1.693684e6

QD
type: SiteQuality
SIO_000300: 2.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQRankSum
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SIO_000300: -2.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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SIO_000300: -1.209e0

GenotypeDepth
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.226993865030675e-4
allele num: 8150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

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

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

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

BaseQRankSum
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SIO_000300: 3.71e0

QD
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ClippingRankSum
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SIO_000300: 5.09e-1

ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

VQSLOD
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SIO_000300: -9.942e-1

MQRankSum
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SIO_000300: 1.31e0

FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.615207e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
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num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.227295041728031e-4
allele num: 8148
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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QD
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MQ
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DP
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

African
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South Asian
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European (Non-Finnish)
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allele num: 64412
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Latino
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European (Finnish)
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Other
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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FS
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VQSLOD
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MQRankSum
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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South Asian
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Latino
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African
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FS
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QD
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MQRankSum
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MQ
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DP
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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African
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East Asian
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European (Finnish)
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Latino
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DP
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FS
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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South Asian
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MQ
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QD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQRankSum
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FS
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InbreedingCoeff
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DP
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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Other
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South Asian
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African
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ReadPosRankSum
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FS
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MQ
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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South Asian
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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MQ
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QD
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FS
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DP
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VQSLOD
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Latino
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African
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South Asian
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QD
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DP
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MQ
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MQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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variant carriers: 0

GenotypeQuality
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African
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allele frequency: 2.112824846820199e-4
allele num: 9466
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64528
num of homozygotes: 0

InbreedingCoeff
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MQ
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DP
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FS
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BaseQRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 1.056412423410099e-4
allele num: 9466
num of homozygotes: 0

East Asian
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allele frequency: 1.188495364868077e-4
allele num: 8414
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11196
num of homozygotes: 0

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

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

Other
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South Asian
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allele frequency: 0.0e0
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FS
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SIO_000300: 5.448e0

InbreedingCoeff
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BaseQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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MQRankSum
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QD
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.548275221403357e-5
allele num: 64588
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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VQSLOD
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DP
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InbreedingCoeff
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MQ
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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FS
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SIO_000300: 2.114e0

BaseQRankSum
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QD
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SIO_000300: 1.277e1

GenotypeDepth
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variant carriers: 0

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

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

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

African
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allele count: 2
allele frequency: 2.094240837696335e-4
allele num: 9550
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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DP
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MQRankSum
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VQSLOD
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MQ
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QD
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ReadPosRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 8.699999999999999e-3

BaseQRankSum
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GenotypeDepth
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 65078
num of homozygotes: 0

African
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East Asian
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Latino
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South Asian
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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DP
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QD
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GenotypeDepth
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variant carriers: 0

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

Latino
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Other
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African
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European (Non-Finnish)
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.58e-1

DP
type: SiteQuality
SIO_000300: 1.401706e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 1.373e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65298
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.533272002453235e-4
allele num: 6522
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 7.1e-3

DP
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SIO_000300: 1.410024e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 7.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.45e-1

ClippingRankSum
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SIO_000300: 1.24e0

ReadPosRankSum
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SIO_000300: -1.381e0

VQSLOD
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SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 6.13e0

QD
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SIO_000300: 9.44e0

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 14
allele frequency: 1.460463175464219e-3
allele num: 9586
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529566520847992e-5
allele num: 65378
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.62e-1

FS
type: SiteQuality
SIO_000300: 2.223e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.31e-1

QD
type: SiteQuality
SIO_000300: 1.255e1

DP
type: SiteQuality
SIO_000300: 1.419305e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.824567596187787e-5
allele num: 11332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9588
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65390
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

MQRankSum
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SIO_000300: 1.46e0

ClippingRankSum
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SIO_000300: 3.52e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.422264e6

FS
type: SiteQuality
SIO_000300: 5.653e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528818223513224e-5
allele num: 65410
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

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

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

Other
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MQRankSum
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SIO_000300: -1.2e0

InbreedingCoeff
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FS
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VQSLOD
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DP
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MQ
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ReadPosRankSum
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QD
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.66e-1

GenotypeDepth
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5253668507276e-5
allele num: 65558
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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South Asian
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allele count: 0
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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MQRankSum
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MQ
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QD
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FS
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VQSLOD
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GenotypeDepth
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variant carriers: 1

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

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

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

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

Other
type: Population
allele count: 0
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Latino
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8524
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.522811719558994e-5
allele num: 65668
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 1.444666e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.029e0

QD
type: SiteQuality
SIO_000300: 7.28e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 2.75e1
variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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bin: 9.25e1
variant carriers: 0

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5982
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15910
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.062989734556278e-4
allele num: 65852
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.64e-1

QD
type: SiteQuality
SIO_000300: 1.133e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.453803e6

FS
type: SiteQuality
SIO_000300: 2.686e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

GenotypeDepth
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bin: 1.75e1
variant carriers: 0

GenotypeDepth
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bin: 2.75e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15910
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65852
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.181347150259067e-4
allele num: 9650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.761170492377782e-5
allele num: 11414
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.686e0

QD
type: SiteQuality
SIO_000300: 1.133e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.64e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.75e-1

DP
type: SiteQuality
SIO_000300: 1.453803e6

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 81
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 908
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.514526710402999e-4
allele num: 8536
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.035411058190101e-4
allele num: 9658
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.553734061930783e-5
allele num: 65880
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.271165182490907e-5
allele num: 15946
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

QD
type: SiteQuality
SIO_000300: 1.001e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

DP
type: SiteQuality
SIO_000300: 1.457316e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-1

FS
type: SiteQuality
SIO_000300: 4.445e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.659e0

VQSLOD
type: SiteQuality
SIO_000300: 5.610000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

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

GenotypeQuality
all individuals: 514
bin: 9.75e1
variant carriers: 6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.03476821192053e-4
allele num: 9664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.034532985373551e-5
allele num: 65908
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.875e-4
allele num: 16000
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.16e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.433e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.459061e6

InbreedingCoeff
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SIO_000300: 6.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65930
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16016
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.170411985018727e-4
allele num: 8544
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.867e0

ClippingRankSum
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DP
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -9.95e-1

FS
type: SiteQuality
SIO_000300: 8.557e0

MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.112e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.825e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 346
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.063545961678389e-5
allele num: 65968
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.23e-1

BaseQRankSum
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DP
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SIO_000300: 1.46675e6

QD
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VQSLOD
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ReadPosRankSum
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MQ
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MQRankSum
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SIO_000300: 5.53e-1

InbreedingCoeff
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SIO_000300: 4.3e-3

ClippingRankSum
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SIO_000300: -8.0e-2

GenotypeDepth
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variant carriers: 0

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

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

African
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allele frequency: 0.0e0
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South Asian
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allele num: 16058
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.031772980839195e-5
allele num: 65968
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

MQ
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MQRankSum
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FS
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DP
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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QD
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ReadPosRankSum
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SIO_000300: -8.42e-1

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.546418937350347e-5
allele num: 65986
num of homozygotes: 0

South Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.89e1

InbreedingCoeff
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SIO_000300: 3.6e-3

FS
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

ReadPosRankSum
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SIO_000300: 4.6e-1

MQRankSum
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SIO_000300: -1.083e0

ClippingRankSum
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SIO_000300: 2.17e-1

VQSLOD
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DP
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SIO_000300: 1.467113e6

QD
type: SiteQuality
SIO_000300: 1.19e1

GenotypeDepth
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variant carriers: 0

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

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 6.256256256256256e-5
allele num: 15984
num of homozygotes: 0

DP
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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QD
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FS
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SIO_000300: 0.0e0

MQRankSum
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MQ
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GenotypeDepth
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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South Asian
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allele num: 15922
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Latino
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MQRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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QD
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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DP
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 1
allele frequency: 1.527650473571647e-4
allele num: 6546
num of homozygotes: 0

European (Non-Finnish)
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allele num: 65854
num of homozygotes: 0

East Asian
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Other
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South Asian
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African
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allele frequency: 1.042318115488847e-4
allele num: 9594
num of homozygotes: 0

Latino
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VQSLOD
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DP
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BaseQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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FS
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.03988326848249e-5
allele num: 65792
num of homozygotes: 0

Other
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: 6548
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

MQ
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SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.96e-1

DP
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SIO_000300: 1.460607e6

MQRankSum
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SIO_000300: -1.24e-1

ReadPosRankSum
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SIO_000300: 1.09e-1

InbreedingCoeff
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SIO_000300: 2.6e-3

FS
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SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.57e-1

QD
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SIO_000300: 7.75e0

GenotypeDepth
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variant carriers: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.768033946251768e-4
allele num: 11312
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9498
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65568
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

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

ReadPosRankSum
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SIO_000300: 3.14e0

QD
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SIO_000300: 8.77e0

InbreedingCoeff
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SIO_000300: 2.8e-3

FS
type: SiteQuality
SIO_000300: 1.728e0

BaseQRankSum
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SIO_000300: 2.69e0

ClippingRankSum
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SIO_000300: 1.31e0

MQRankSum
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SIO_000300: 2.89e-1

VQSLOD
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SIO_000300: -1.283e0

MQ
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SIO_000300: 6.0e1

DP
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SIO_000300: 1.453729e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.598123965422108e-5
allele num: 65244
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.165e0

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
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SIO_000300: 1.444971e6

QD
type: SiteQuality
SIO_000300: 1.342e1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.12e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11224
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 1.062022090059473e-4
allele num: 9416
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65122
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
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SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
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BaseQRankSum
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DP
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SIO_000300: 1.443464e6

FS
type: SiteQuality
SIO_000300: 6.32e-1

ClippingRankSum
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SIO_000300: 4.91e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

ReadPosRankSum
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SIO_000300: -3.53e-1

QD
type: SiteQuality
SIO_000300: 9.359999999999999e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.416837782340863e-5
allele num: 15584
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65122
num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

VQSLOD
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InbreedingCoeff
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MQRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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QD
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MQ
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ClippingRankSum
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DP
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
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African
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South Asian
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Latino
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East Asian
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Other
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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DP
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MQRankSum
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MQ
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ClippingRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9284
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56128024980484e-5
allele num: 64050
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10970
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15276
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

VQSLOD
type: SiteQuality
SIO_000300: -2.043e0

FS
type: SiteQuality
SIO_000300: 8.497e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.415505e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.21e-1

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

GenotypeDepth
all individuals: 2825
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 695
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.142439202779301e-5
allele num: 10938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.566906925728612e-4
allele num: 6382
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.079447322970639e-4
allele num: 9264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.688525614978276e-5
allele num: 63986
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8218
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.560818790185015e-5
allele num: 15242
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.55e0

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

DP
type: SiteQuality
SIO_000300: 1.412908e6

QD
type: SiteQuality
SIO_000300: 1.088e1

VQSLOD
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SIO_000300: 1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.679999999999999e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
all individuals: 312
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 171
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GenotypeQuality
all individuals: 619
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.083423618634886e-4
allele num: 9230
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10876
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63694
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

QD
type: SiteQuality
SIO_000300: 9.42e0

VQSLOD
type: SiteQuality
SIO_000300: -1.566e-1

FS
type: SiteQuality
SIO_000300: 8.661e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.48e-1

DP
type: SiteQuality
SIO_000300: 1.402759e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 17170
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variant carriers: 2

GenotypeDepth
all individuals: 80
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variant carriers: 0

GenotypeDepth
all individuals: 15
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GenotypeDepth
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GenotypeDepth
all individuals: 26456
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variant carriers: 1

GenotypeDepth
all individuals: 8
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variant carriers: 0

GenotypeDepth
all individuals: 281
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variant carriers: 0

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeDepth
all individuals: 18
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
all individuals: 935
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GenotypeQuality
all individuals: 800
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 24
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GenotypeQuality
all individuals: 8671
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 504
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variant carriers: 6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14830
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9014
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.719117504130625e-5
allele num: 61734
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

QD
type: SiteQuality
SIO_000300: 1.127e1

VQSLOD
type: SiteQuality
SIO_000300: 9.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.191e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.269e0

DP
type: SiteQuality
SIO_000300: 1.350651e6