5-177569765-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569765
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569765
    reference: chr 5
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.285+36G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1389+36G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*46+36G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.285+36G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.246+36G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.285+36G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.377G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1093G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*189+36G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.285+36G>A
  variant of: http://identifiers.org/hgnc/26181
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5395
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2368
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-177569766-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569766
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569766
    reference: chr 5
allele count: 5
allele frequency: 4.119973632168754e-5
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.285+37C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.285+37C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.285+37C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.378C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*46+37C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1094C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1389+37C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.285+37C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.246+37C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*189+37C>T
  variant of: http://identifiers.org/hgnc/26181
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7060
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17630
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

5-177569769-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569769
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569769
    reference: chr 5
allele count: 4
allele frequency: 3.295870274545994e-5
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.381C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.285+40C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.285+40C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*46+40C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.285+40C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.285+40C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.246+40C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1097C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*189+40C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1389+40C>T
  variant of: http://identifiers.org/hgnc/26181
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9859
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/5-177569781-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569781
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569781
    reference: chr 5
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.285+52A>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*46+52A>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1389+52A>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.285+52A>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*189+52A>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.393A>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.285+52A>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.285+52A>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1109A>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.246+52A>C
  variant of: http://identifiers.org/hgnc/26181
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-177569784-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569784
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569784
    reference: chr 5
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.285+55T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.396T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.285+55T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.285+55T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1112T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*46+55T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1389+55T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.246+55T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*189+55T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.285+55T>C
  variant of: http://identifiers.org/hgnc/26181
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12748
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7272
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4778
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ

5-177569792-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569792
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569792
    reference: chr 5
allele count: 6
allele frequency: 4.943642475776152e-5
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.286-61C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.404C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1390-61C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.286-61C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.247-61C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.286-61C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.286-61C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*47-61C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1120C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*190-61C>T
  variant of: http://identifiers.org/hgnc/26181
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7030
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9822
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12919
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/5-177569794-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569794
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569794
    reference: chr 5
allele count: 2
allele frequency: 1.648070932972955e-5
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*47-59C>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.286-59C>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.406C>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.247-59C>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*190-59C>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.286-59C>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1122C>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.286-59C>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.286-59C>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1390-59C>A
  variant of: http://identifiers.org/hgnc/26181
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7030
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7211
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4760
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

5-177569794-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569794
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569794
    reference: chr 5
allele count: 5
allele frequency: 4.120177332432388e-5
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1390-59C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.286-59C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*190-59C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1122C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.406C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.286-59C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.286-59C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.247-59C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*47-59C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.286-59C>T
  variant of: http://identifiers.org/hgnc/26181
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9825
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7030
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

5-177569795-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569795
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569795
    reference: chr 5
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.247-58G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.407G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1390-58G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.286-58G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1123G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*190-58G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*47-58G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.286-58G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.286-58G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.286-58G>A
  variant of: http://identifiers.org/hgnc/26181
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4762
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

5-177569796-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569796
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569796
    reference: chr 5
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.286-57A>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1124A>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*47-57A>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*190-57A>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1390-57A>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.408A>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.247-57A>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.286-57A>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.286-57A>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.286-57A>T
  variant of: http://identifiers.org/hgnc/26181
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7025
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7249
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

5-177569807-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569807
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569807
    reference: chr 5
allele count: 6
allele frequency: 4.943153732081068e-5
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*47-46G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.286-46G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1390-46G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1135G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.286-46G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.247-46G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*190-46G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.419G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.286-46G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.286-46G>A
  variant of: http://identifiers.org/hgnc/26181
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12920
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-177569808-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569808
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569808
    reference: chr 5
allele count: 6
allele frequency: 4.943316635908252e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1390-45C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*47-45C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.286-45C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.420C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.286-45C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.247-45C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.286-45C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*190-45C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1136C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.286-45C>T
  variant of: http://identifiers.org/hgnc/26181
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7014
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6314
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

5-177569810-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569810
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569810
    reference: chr 5
allele count: 7
allele frequency: 5.76672762921589e-5
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.247-43A>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1138A>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.286-43A>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.422A>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.286-43A>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.286-43A>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*47-43A>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.286-43A>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*190-43A>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1390-43A>G
  variant of: http://identifiers.org/hgnc/26181
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7005
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12948
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

5-177569814-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569814
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569814
    reference: chr 5
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.286-39T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.286-39T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1142T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.426T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.286-39T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*190-39T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1390-39T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.247-39T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.286-39T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*47-39T>C
  variant of: http://identifiers.org/hgnc/26181
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7004
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

5-177569815-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569815
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569815
    reference: chr 5
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.286-38G>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.247-38G>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1143G>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.427G>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.286-38G>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*47-38G>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.286-38G>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.286-38G>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1390-38G>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*190-38G>T
  variant of: http://identifiers.org/hgnc/26181
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7003
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3659
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-177569818-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569818
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569818
    reference: chr 5
allele count: 17
allele frequency: 1.400606380174005e-4
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*47-35C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.247-35C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*190-35C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.430C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1146C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1390-35C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.286-35C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.286-35C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.286-35C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.286-35C>T
  variant of: http://identifiers.org/hgnc/26181
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3660
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

5-177569819-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569819
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569819
    reference: chr 5
allele count: 5
allele frequency: 4.119294776734223e-5
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.431G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*47-34G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.247-34G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*190-34G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.286-34G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.286-34G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.286-34G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1147G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1390-34G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.286-34G>A
  variant of: http://identifiers.org/hgnc/26181
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7002
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13002
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12910
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18402
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5307
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ

5-177569819-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569819
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569819
    reference: chr 5
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.286-34G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1390-34G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.286-34G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*47-34G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*190-34G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.431G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1147G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.286-34G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.286-34G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.247-34G>C
  variant of: http://identifiers.org/hgnc/26181
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7002
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

5-177569831-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569831
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569831
    reference: chr 5
allele count: 3
allele frequency: 2.471413978317461e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.286-22C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.286-22C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1390-22C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*190-22C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.286-22C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.247-22C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.286-22C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1159C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.443C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*47-22C>T
  variant of: http://identifiers.org/hgnc/26181
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12917
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3418
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

5-177569831-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569831
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569829
    reference: chr 5
allele count: 7
allele frequency: 5.766632616074076e-5
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.444_445delCT
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*190-21_*190-20delCT
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.286-21_286-20delCT
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*47-21_*47-20delCT
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.286-21_286-20delCT
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.286-21_286-20delCT
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1390-21_1390-20delCT
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.247-21_247-20delCT
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1160_1161delCT
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.286-21_286-20delCT
  variant of: http://identifiers.org/hgnc/26181
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3661
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: CCT
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

5-177569832-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569832
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569832
    reference: chr 5
allele count: 2
allele frequency: 1.647826516824309e-5
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.286-21C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*190-21C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.444C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1160C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1390-21C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.247-21C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.286-21C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.286-21C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*47-21C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.286-21C>T
  variant of: http://identifiers.org/hgnc/26181
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15344
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-177569833-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569833
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569833
    reference: chr 5
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.445T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.286-20T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.286-20T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.286-20T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*190-20T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1161T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*47-20T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1390-20T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.286-20T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.247-20T>C
  variant of: http://identifiers.org/hgnc/26181
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3663
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

5-177569843-CCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569843
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569840
    reference: chr 5
allele count: 52
allele frequency: 4.2837842290836e-4
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1390-8_1390-6delTTC
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1173_1175delTTC
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.286-8_286-6delTTC
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.286-8_286-6delTTC
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.286-8_286-6delTTC
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*190-8_*190-6delTTC
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*47-8_*47-6delTTC
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.457_459delTTC
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.286-8_286-6delTTC
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.247-8_247-6delTTC
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 9807
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: c.286-8_286-6delTTC
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
reference allele: CCTT
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

5-177569844-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569844
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569843
    reference: chr 5
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.247-7delT
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1390-7delT
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.286-7delT
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1174delT
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*47-7delT
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.286-7delT
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.458delT
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.286-7delT
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.286-7delT
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*190-7delT
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: c.286-7delT
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: CT
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

5-177569846-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569846
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569846
    reference: chr 5
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.286-7T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.458T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*47-7T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.286-7T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*190-7T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.286-7T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.286-7T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1174T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.247-7T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1390-7T>C
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
hgvs: c.286-7T>C
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

5-177569847-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569847
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569847
    reference: chr 5
allele count: 6
allele frequency: 4.946903238572654e-5
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*190-6C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*47-6C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1175C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.459C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.286-6C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.286-6C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.286-6C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.286-6C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1390-6C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.247-6C>T
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6992
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: c.286-6C>T
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

5-177569848-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569848
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569848
    reference: chr 5
allele count: 7
allele frequency: 5.766537606063102e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1390-5G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*190-5G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.286-5G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.286-5G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.286-5G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.247-5G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.286-5G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*47-5G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1176G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.460G>A
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4383
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: c.286-5G>A
num of homozygotes: 1
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

5-177569858-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569858
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569858
    reference: chr 5
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.252C>T
  hgvsp: ENST00000542098.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.291C>T
  hgvsp: ENST00000507457.1:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.291C>T
  hgvsp: ENST00000313386.4:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.291C>T
  hgvsp: ENST00000502814.1:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1186C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*52C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.470C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1395C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*195C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.291C>T
  hgvsp: ENST00000515098.1:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2362
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe97Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

5-177569859-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569859
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569859
    reference: chr 5
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1396G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.292G>A
  hgvsp: ENSP00000425920.1:p.Asp98Asn
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*196G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.292G>A
  hgvsp: ENSP00000420875.1:p.Asp98Asn
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.471G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1187G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.292G>A
  hgvsp: ENSP00000320623.4:p.Asp98Asn
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.253G>A
  hgvsp: ENSP00000437630.1:p.Asp85Asn
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*53G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.292G>A
  hgvsp: ENSP00000424928.1:p.Asp98Asn
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4765
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp98Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

5-177569859-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569859
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569859
    reference: chr 5
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*53G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.292G>C
  hgvsp: ENSP00000320623.4:p.Asp98His
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.292G>C
  hgvsp: ENSP00000420875.1:p.Asp98His
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.292G>C
  hgvsp: ENSP00000425920.1:p.Asp98His
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.292G>C
  hgvsp: ENSP00000424928.1:p.Asp98His
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.253G>C
  hgvsp: ENSP00000437630.1:p.Asp85His
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1396G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1187G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*196G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.471G>C
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp98His
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: G
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

5-177569863-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569863
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569864
    reference: chr 5
allele count: 2
allele frequency: 1.647609318878308e-5
allele num: 121388
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*58dupT
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.297dupT
  hgvsp: ENSP00000424928.1:p.Glu100Ter
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.297dupT
  hgvsp: ENSP00000425920.1:p.Glu100Ter
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.258dupT
  hgvsp: ENSP00000437630.1:p.Glu87Ter
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.476dupT
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*201dupT
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.297dupT
  hgvsp: ENSP00000320623.4:p.Glu100Ter
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.297dupT
  hgvsp: ENSP00000420875.1:p.Glu100Ter
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1192dupT
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1401dupT
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3662
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu100Ter
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

5-177569864-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569864
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569864
    reference: chr 5
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.476T>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*201T>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.297T>A
  hgvsp: ENST00000515098.1:c.297T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1401T>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.297T>A
  hgvsp: ENST00000507457.1:c.297T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*58T>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.258T>A
  hgvsp: ENST00000542098.1:c.258T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.297T>A
  hgvsp: ENST00000313386.4:c.297T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.297T>A
  hgvsp: ENST00000502814.1:c.297T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1192T>A
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser99Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

5-177569878-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569878
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569878
    reference: chr 5
allele count: 7
allele frequency: 5.766917664892653e-5
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.311T>G
  hgvsp: ENSP00000425920.1:p.Val104Gly
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*215T>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.272T>G
  hgvsp: ENSP00000437630.1:p.Val91Gly
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.311T>G
  hgvsp: ENSP00000424928.1:p.Val104Gly
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1206T>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.490T>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*72T>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.311T>G
  hgvsp: ENSP00000420875.1:p.Val104Gly
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.311T>G
  hgvsp: ENSP00000320623.4:p.Val104Gly
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1415T>G
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val104Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

5-177569880-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569880
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569880
    reference: chr 5
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*74G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1208G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1417G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.492G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*217G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.313G>C
  hgvsp: ENSP00000320623.4:p.Val105Leu
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.313G>C
  hgvsp: ENSP00000420875.1:p.Val105Leu
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.313G>C
  hgvsp: ENSP00000424928.1:p.Val105Leu
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.313G>C
  hgvsp: ENSP00000425920.1:p.Val105Leu
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.274G>C
  hgvsp: ENSP00000437630.1:p.Val92Leu
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4766
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val105Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

5-177569886-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569886
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569886
    reference: chr 5
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*223G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.319G>C
  hgvsp: ENSP00000424928.1:p.Asp107His
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.319G>C
  hgvsp: ENSP00000420875.1:p.Asp107His
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.280G>C
  hgvsp: ENSP00000437630.1:p.Asp94His
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1214G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.319G>C
  hgvsp: ENSP00000320623.4:p.Asp107His
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*80G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.319G>C
  hgvsp: ENSP00000425920.1:p.Asp107His
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1423G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.498G>C
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3417
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15324
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp107His
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

5-177569889-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569889
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569889
    reference: chr 5
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*83G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.322G>A
  hgvsp: ENSP00000424928.1:p.Ala108Thr
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.283G>A
  hgvsp: ENSP00000437630.1:p.Ala95Thr
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.322G>A
  hgvsp: ENSP00000420875.1:p.Ala108Thr
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.322G>A
  hgvsp: ENSP00000320623.4:p.Ala108Thr
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1217G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*226G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1426G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.501G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.322G>A
  hgvsp: ENSP00000425920.1:p.Ala108Thr
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4765
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala108Thr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP

5-177569890-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569890
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569890
    reference: chr 5
allele count: 20
allele frequency: 1.648070932972955e-4
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1427C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.323C>T
  hgvsp: ENSP00000425920.1:p.Ala108Val
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*227C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.323C>T
  hgvsp: ENSP00000320623.4:p.Ala108Val
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.323C>T
  hgvsp: ENSP00000420875.1:p.Ala108Val
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*84C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1218C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.284C>T
  hgvsp: ENSP00000437630.1:p.Ala95Val
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.502C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.323C>T
  hgvsp: ENSP00000424928.1:p.Ala108Val
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 6995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7274
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala108Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-177569891-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569891
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569891
    reference: chr 5
allele count: 3
allele frequency: 2.472024918011174e-5
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.324G>A
  hgvsp: ENST00000515098.1:c.324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1219G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.324G>A
  hgvsp: ENST00000507457.1:c.324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.324G>A
  hgvsp: ENST00000502814.1:c.324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*228G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.503G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1428G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*85G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.324G>A
  hgvsp: ENST00000313386.4:c.324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.285G>A
  hgvsp: ENST00000542098.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala108Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

5-177569893-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569893
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569893
    reference: chr 5
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.287T>C
  hgvsp: ENSP00000437630.1:p.Val96Ala
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.326T>C
  hgvsp: ENSP00000420875.1:p.Val109Ala
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.326T>C
  hgvsp: ENSP00000320623.4:p.Val109Ala
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.326T>C
  hgvsp: ENSP00000424928.1:p.Val109Ala
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.505T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*87T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1430T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1221T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*230T>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.326T>C
  hgvsp: ENSP00000425920.1:p.Val109Ala
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val109Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

5-177569900-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569900
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569900
    reference: chr 5
allele count: 53
allele frequency: 4.367315995912851e-4
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.333C>T
  hgvsp: ENST00000515098.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1437C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.294C>T
  hgvsp: ENST00000542098.1:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.333C>T
  hgvsp: ENST00000507457.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.333C>T
  hgvsp: ENST00000313386.4:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.333C>T
  hgvsp: ENST00000502814.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1228C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*94C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.512C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*237C>T
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 13070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3412
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp111Asp
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

5-177569901-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569901
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569901
    reference: chr 5
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*238G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.513G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.334G>A
  hgvsp: ENSP00000320623.4:p.Ala112Thr
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.334G>A
  hgvsp: ENSP00000424928.1:p.Ala112Thr
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1438G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*95G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1229G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.334G>A
  hgvsp: ENSP00000425920.1:p.Ala112Thr
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.295G>A
  hgvsp: ENSP00000437630.1:p.Ala99Thr
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.334G>A
  hgvsp: ENSP00000420875.1:p.Ala112Thr
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15297
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5319
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala112Thr
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

5-177569902-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569902
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569902
    reference: chr 5
allele count: 5
allele frequency: 4.120177332432388e-5
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.514C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*96C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.296C>T
  hgvsp: ENSP00000437630.1:p.Ala99Val
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.335C>T
  hgvsp: ENSP00000425920.1:p.Ala112Val
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1439C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1230C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.335C>T
  hgvsp: ENSP00000420875.1:p.Ala112Val
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.335C>T
  hgvsp: ENSP00000320623.4:p.Ala112Val
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*239C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.335C>T
  hgvsp: ENSP00000424928.1:p.Ala112Val
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9813
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala112Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

5-177569903-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569903
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569903
    reference: chr 5
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.336G>A
  hgvsp: ENST00000507457.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*97G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.336G>A
  hgvsp: ENST00000313386.4:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.297G>A
  hgvsp: ENST00000542098.1:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.515G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.336G>A
  hgvsp: ENST00000515098.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.336G>A
  hgvsp: ENST00000502814.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*240G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1231G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1440G>A
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3653
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala112Ala
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

5-177569904-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569904
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569904
    reference: chr 5
allele count: 4
allele frequency: 3.296250515039143e-5
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.298C>T
  hgvsp: ENSP00000437630.1:p.Arg100Trp
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.337C>T
  hgvsp: ENSP00000425920.1:p.Arg113Trp
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.516C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.337C>T
  hgvsp: ENSP00000424928.1:p.Arg113Trp
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.337C>T
  hgvsp: ENSP00000420875.1:p.Arg113Trp
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*98C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*241C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1441C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.337C>T
  hgvsp: ENSP00000320623.4:p.Arg113Trp
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1232C>T
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg113Trp
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

5-177569905-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569905
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569905
    reference: chr 5
allele count: 8
allele frequency: 6.592827004219409e-5
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.338G>A
  hgvsp: ENSP00000424928.1:p.Arg113Gln
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.338G>A
  hgvsp: ENSP00000320623.4:p.Arg113Gln
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*242G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*99G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.299G>A
  hgvsp: ENSP00000437630.1:p.Arg100Gln
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1442G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.338G>A
  hgvsp: ENSP00000425920.1:p.Arg113Gln
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1233G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.338G>A
  hgvsp: ENSP00000420875.1:p.Arg113Gln
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.517G>A
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6990
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5320
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg113Gln
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: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

5-177569905-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569905
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569905
    reference: chr 5
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*242G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.338G>C
  hgvsp: ENSP00000425920.1:p.Arg113Pro
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.338G>C
  hgvsp: ENSP00000320623.4:p.Arg113Pro
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.338G>C
  hgvsp: ENSP00000420875.1:p.Arg113Pro
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.517G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1442G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000424928
  ensembl transcript: ENST00000502814
  gene symbol: RMND5B
  hgvsc: ENST00000502814.1:c.338G>C
  hgvsp: ENSP00000424928.1:p.Arg113Pro
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.299G>C
  hgvsp: ENSP00000437630.1:p.Arg100Pro
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*99G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1233G>C
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6990
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg113Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

5-177569909-A-ACAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569909
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569912
    reference: chr 5
allele count: 2
allele frequency: 1.648315421639085e-5
allele num: 121336
alternate allele: ACAG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1247_1249dupCAG
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.531_533dupCAG
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*113_*115dupCAG
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.352_354dupCAG
  hgvsp: ENSP00000425920.1:p.Gln118dup
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.313_315dupCAG
  hgvsp: ENSP00000437630.1:p.Gln105dup
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1456_1458dupCAG
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.352_354dupCAG
  hgvsp: ENSP00000320623.4:p.Gln118dup
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*256_*258dupCAG
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.352_354dupCAG
  hgvsp: ENSP00000420875.1:p.Gln118dup
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3412
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln118dup
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ

5-177569909-ACAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569909
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569906
    reference: chr 5
allele count: 4
allele frequency: 3.29663084327817e-5
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.352_354delCAG
  hgvsp: ENSP00000420875.1:p.Gln118del
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.352_354delCAG
  hgvsp: ENSP00000425920.1:p.Gln118del
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1247_1249delCAG
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.531_533delCAG
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*113_*115delCAG
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.313_315delCAG
  hgvsp: ENSP00000437630.1:p.Gln105del
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*256_*258delCAG
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.352_354delCAG
  hgvsp: ENSP00000320623.4:p.Gln118del
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1456_1458delCAG
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln118del
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: ACAG
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

5-177569913-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569913
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569913
    reference: chr 5
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*107C>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.346C>G
  hgvsp: ENSP00000320623.4:p.Gln116Glu
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*250C>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1241C>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1450C>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.307C>G
  hgvsp: ENSP00000437630.1:p.Gln103Glu
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.525C>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.346C>G
  hgvsp: ENSP00000425920.1:p.Gln116Glu
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.346C>G
  hgvsp: ENSP00000420875.1:p.Gln116Glu
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3411
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln116Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

5-177569920-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569920
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569920
    reference: chr 5
allele count: 7
allele frequency: 5.771958178040173e-5
allele num: 121276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1248A>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.353A>T
  hgvsp: ENSP00000420875.1:p.Gln118Leu
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.314A>T
  hgvsp: ENSP00000437630.1:p.Gln105Leu
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.353A>T
  hgvsp: ENSP00000425920.1:p.Gln118Leu
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.532A>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.353A>T
  hgvsp: ENSP00000320623.4:p.Gln118Leu
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*114A>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*257A>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1457A>T
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15289
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln118Leu
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-177569931-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569931
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569931
    reference: chr 5
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.543A>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*125A>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.364A>G
  hgvsp: ENSP00000420875.1:p.Met122Val
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1259A>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.364A>G
  hgvsp: ENSP00000320623.4:p.Met122Val
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*268A>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.325A>G
  hgvsp: ENSP00000437630.1:p.Met109Val
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.364A>G
  hgvsp: ENSP00000425920.1:p.Met122Val
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1468A>G
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3655
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met122Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

5-177569936-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569936
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569936
    reference: chr 5
allele count: 2
allele frequency: 1.651145895251304e-5
allele num: 121128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.548C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.330C>T
  hgvsp: ENST00000542098.1:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.369C>T
  hgvsp: ENST00000313386.4:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.369C>T
  hgvsp: ENST00000507457.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1473C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*273C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.369C>T
  hgvsp: ENST00000515098.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*130C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1264C>T
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4762
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3655
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala123Ala
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

5-177569937-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569937
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569937
    reference: chr 5
allele count: 3
allele frequency: 2.476555276713776e-5
allele num: 121136
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1474A>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.370A>G
  hgvsp: ENSP00000320623.4:p.Ile124Val
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.370A>G
  hgvsp: ENSP00000425920.1:p.Ile124Val
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*131A>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.331A>G
  hgvsp: ENSP00000437630.1:p.Ile111Val
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.549A>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1265A>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.370A>G
  hgvsp: ENSP00000420875.1:p.Ile124Val
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*274A>G
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3398
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile124Val
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

5-177569939-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569939
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569939
    reference: chr 5
allele count: 59
allele frequency: 4.871443433459386e-4
allele num: 121114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.333C>T
  hgvsp: ENST00000542098.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*276C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.372C>T
  hgvsp: ENST00000313386.4:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1476C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.551C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*133C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1267C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.372C>T
  hgvsp: ENST00000515098.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.372C>T
  hgvsp: ENST00000507457.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15300
  bin: 9.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile124Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

5-177569940-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569940
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569940
    reference: chr 5
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.373G>A
  hgvsp: ENSP00000425920.1:p.Val125Met
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.334G>A
  hgvsp: ENSP00000437630.1:p.Val112Met
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.373G>A
  hgvsp: ENSP00000420875.1:p.Val125Met
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*277G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1268G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.552G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*134G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.373G>A
  hgvsp: ENSP00000320623.4:p.Val125Met
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1477G>A
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15262
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4760
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val125Met
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

5-177569951-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569951
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569951
    reference: chr 5
allele count: 1
allele frequency: 8.269520202437855e-6
allele num: 120926
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.384G>A
  hgvsp: ENST00000507457.1:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.384G>A
  hgvsp: ENST00000515098.1:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.345G>A
  hgvsp: ENST00000542098.1:c.345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*145G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.563G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*288G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1488G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.384G>A
  hgvsp: ENST00000313386.4:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1279G>A
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12902
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7180
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu128Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

5-177569966-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569966
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569966
    reference: chr 5
allele count: 1
allele frequency: 8.320159747067144e-6
allele num: 120190
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.399G>A
  hgvsp: ENSP00000420875.1:p.Met133Ile
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*303G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1294G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.399G>A
  hgvsp: ENSP00000425920.1:p.Met133Ile
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1503G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.399G>A
  hgvsp: ENSP00000320623.4:p.Met133Ile
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.360G>A
  hgvsp: ENSP00000437630.1:p.Met120Ile
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*160G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.578G>A
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12853
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7048
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met133Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

5-177569969-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569969
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569969
    reference: chr 5
allele count: 2819
allele frequency: 2.349558259709952e-2
allele num: 119980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*306C>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*163C>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.402C>G
  hgvsp: ENST00000313386.4:c.402C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.402C>G
  hgvsp: ENST00000507457.1:c.402C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.402C>G
  hgvsp: ENST00000515098.1:c.402C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1297C>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1506C>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.581C>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.363C>G
  hgvsp: ENST00000542098.1:c.363C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.25e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 1032
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 2.25e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12301
  bin: 2.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 6744
  bin: 4.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 12681
  bin: 3.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 5.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 175
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 197
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 168
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 4.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 185
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 5.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 9613
  bin: 3.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 159
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu134Leu
num of homozygotes: 44
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

5-177569969-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569969
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569969
    reference: chr 5
allele count: 1
allele frequency: 8.334722453742291e-6
allele num: 119980
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1297C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.363C>T
  hgvsp: ENST00000542098.1:c.363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1506C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*306C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.402C>T
  hgvsp: ENST00000515098.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.402C>T
  hgvsp: ENST00000313386.4:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.402C>T
  hgvsp: ENST00000507457.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.581C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*163C>T
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3269
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16462
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu134Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

5-177569972-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569972
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569972
    reference: chr 5
allele count: 29
allele frequency: 2.422763955955822e-4
allele num: 119698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.366C>T
  hgvsp: ENST00000542098.1:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.405C>T
  hgvsp: ENST00000313386.4:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.405C>T
  hgvsp: ENST00000507457.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.584C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1509C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*309C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*166C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1300C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.405C>T
  hgvsp: ENST00000515098.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9967
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 13245
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser135Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

5-177569973-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569973
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569973
    reference: chr 5
allele count: 7
allele frequency: 5.849810299008875e-5
allele num: 119662
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*167G>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.406G>T
  hgvsp: ENSP00000425920.1:p.Val136Leu
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.406G>T
  hgvsp: ENSP00000420875.1:p.Val136Leu
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*310G>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.367G>T
  hgvsp: ENSP00000437630.1:p.Val123Leu
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.406G>T
  hgvsp: ENSP00000320623.4:p.Val136Leu
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.585G>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1301G>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1510G>T
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13209
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12739
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val136Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

5-177569973-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569973
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569973
    reference: chr 5
allele count: 2
allele frequency: 1.671374371145393e-5
allele num: 119662
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000421553
  ensembl transcript: ENST00000512663
  gene symbol: RMND5B
  hgvsc: ENST00000512663.1:c.*310G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.406G>A
  hgvsp: ENSP00000420875.1:p.Val136Met
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.406G>A
  hgvsp: ENSP00000425920.1:p.Val136Met
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.585G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.406G>A
  hgvsp: ENSP00000320623.4:p.Val136Met
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*167G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1301G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.367G>A
  hgvsp: ENSP00000437630.1:p.Val123Met
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1510G>A
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4794
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val136Met
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

5-177569978-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569978
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569978
    reference: chr 5
allele count: 9
allele frequency: 7.546410424108265e-5
allele num: 119262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.372C>T
  hgvsp: ENST00000542098.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.411C>T
  hgvsp: ENST00000313386.4:c.411C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.411C>T
  hgvsp: ENST00000515098.1:c.411C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.411C>T
  hgvsp: ENST00000507457.1:c.411C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1515C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1306C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.590C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*172C>T
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12498
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16360
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2078
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala137Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

5-177569979-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569979
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569979
    reference: chr 5
allele count: 1
allele frequency: 8.39390937935434e-6
allele num: 119134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.373G>A
  hgvsp: ENSP00000437630.1:p.Glu125Lys
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.412G>A
  hgvsp: ENSP00000425920.1:p.Glu138Lys
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.412G>A
  hgvsp: ENSP00000420875.1:p.Glu138Lys
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1516G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1307G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.412G>A
  hgvsp: ENSP00000320623.4:p.Glu138Lys
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.591G>A
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*173G>A
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3402
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4788
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7155
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu138Lys
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

5-177569987-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569987
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569987
    reference: chr 5
allele count: 1
allele frequency: 8.427297702718647e-6
allele num: 118662
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.420G>T
  hgvsp: ENST00000515098.1:c.420G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*181G>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.420G>T
  hgvsp: ENST00000313386.4:c.420G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.381G>T
  hgvsp: ENST00000542098.1:c.381G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.420G>T
  hgvsp: ENST00000507457.1:c.420G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1524G>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.599G>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1315G>T
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14045
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu140Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ

5-177569993-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569993
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569993
    reference: chr 5
allele count: 1
allele frequency: 8.498053945646446e-6
allele num: 117674
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.426G>C
  hgvsp: ENSP00000420875.1:p.Gln142His
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*187G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.605G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.426G>C
  hgvsp: ENSP00000425920.1:p.Gln142His
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.387G>C
  hgvsp: ENSP00000437630.1:p.Gln129His
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.426G>C
  hgvsp: ENSP00000320623.4:p.Gln142His
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1321G>C
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1530G>C
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6925
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3570
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4777
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6962
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln142His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

5-177569995-TAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569995
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569993
    reference: chr 5
allele count: 64
allele frequency: 5.440326419585176e-4
allele num: 117640
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.605+4_605+5delCA
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.426+4_426+5delCA
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1530+4_1530+5delCA
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.426+4_426+5delCA
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.387+4_387+5delCA
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*187+4_*187+5delCA
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1321+4_1321+5delCA
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.426+4_426+5delCA
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11862
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9948
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 13060
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3643
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4772
  bin: 8.25e1
  variant carriers: 0
hgvs: c.426+4_426+5delCA
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: TAC
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

5-177569997-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569997
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569997
    reference: chr 5
allele count: 1
allele frequency: 8.525876033762469e-6
allele num: 117290
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.426+4C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*187+4C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1530+4C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.426+4C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.605+4C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.426+4C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.387+4C>T
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1321+4C>T
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3704
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14019
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4773
  bin: 8.25e1
  variant carriers: 0
hgvs: c.426+4C>T
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

5-177569998-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177569998
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177569998
    reference: chr 5
allele count: 1
allele frequency: 8.529221111528095e-6
allele num: 117244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000507575
  gene symbol: RMND5B
  hgvsc: ENST00000507575.1:n.605+5A>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000437630
  ensembl transcript: ENST00000542098
  gene symbol: RMND5B
  hgvsc: ENST00000542098.1:c.387+5A>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000320623
  ensembl transcript: ENST00000313386
  gene symbol: RMND5B
  hgvsc: ENST00000313386.4:c.426+5A>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000425920
  ensembl transcript: ENST00000507457
  gene symbol: RMND5B
  hgvsc: ENST00000507457.1:c.426+5A>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000420875
  ensembl transcript: ENST00000515098
  gene symbol: RMND5B
  hgvsc: ENST00000515098.1:c.426+5A>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145916
  ensembl protein: ENSP00000423251
  ensembl transcript: ENST00000512811
  gene symbol: RMND5B
  hgvsc: ENST00000512811.1:c.*187+5A>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000515360
  gene symbol: RMND5B
  hgvsc: ENST00000515360.1:n.1530+5A>G
  variant of: http://identifiers.org/hgnc/26181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145916
  ensembl transcript: ENST00000513162
  gene symbol: RMND5B
  hgvsc: ENST00000513162.1:n.1321+5A>G
  variant of: http://identifiers.org/hgnc/26181
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5377
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
hgvs: c.426+5A>G
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: DP

GenotypeQuality
all individuals: 7313
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4804
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 103
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 137
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17554
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3688
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15395
bin: 9.75e1
variant carriers: 1

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.061e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.59e-1

DP
type: SiteQuality
SIO_000300: 2.20292e6

QD
type: SiteQuality
SIO_000300: 1.577e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.066e0

GenotypeQuality
all individuals: 5393
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3462
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4802
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15394
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3688
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7319
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.496027105634013e-5
allele num: 66702
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.256e1

FS
type: SiteQuality
SIO_000300: 1.331e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.202811e6

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.775e0

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.32e-1

GenotypeQuality
all individuals: 2366
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 94
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3453
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5384
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7304
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4800
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3680
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17719
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15395
bin: 9.75e1
variant carriers: 4

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

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

African
type: Population
allele count: 4
allele frequency: 3.844675124951942e-4
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.15e-1

QD
type: SiteQuality
SIO_000300: 1.483e1

MQRankSum
type: SiteQuality
SIO_000300: -1.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

FS
type: SiteQuality
SIO_000300: 8.625e0

DP
type: SiteQuality
SIO_000300: 2.202437e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.936e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

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

GenotypeQuality
all individuals: 3672
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4784
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 63
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 95
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3439
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15380
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17776
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7280
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5367
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -8.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.43e0

VQSLOD
type: SiteQuality
SIO_000300: -4.701e-1

DP
type: SiteQuality
SIO_000300: 2.201126e6

QD
type: SiteQuality
SIO_000300: 1.402e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 1.757e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.198e0

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

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

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

GenotypeQuality
all individuals: 15378
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5360
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3434
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17821
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2362
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3671
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e0

DP
type: SiteQuality
SIO_000300: 2.200918e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.141e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

VQSLOD
type: SiteQuality
SIO_000300: -1.639e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

QD
type: SiteQuality
SIO_000300: 1.921e1

FS
type: SiteQuality
SIO_000300: 8.558999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

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

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

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15375
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 7216
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3664
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3424
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17912
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2361
bin: 8.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 4770
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 6
allele frequency: 5.187618882932734e-4
allele num: 11566
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.92e-1

DP
type: SiteQuality
SIO_000300: 2.200809e6

MQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

QD
type: SiteQuality
SIO_000300: 1.503e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

FS
type: SiteQuality
SIO_000300: 2.727e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.412e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3419
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 50
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.25e1
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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bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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: 0
allele frequency: 0.0e0
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MQ
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MQRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: 2.0e-4

FS
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ClippingRankSum
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SIO_000300: -1.14e-1

ReadPosRankSum
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SIO_000300: 3.06e-1

QD
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SIO_000300: 1.577e1

DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4
allele frequency: 5.997001499250375e-5
allele num: 66700
num of homozygotes: 0

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
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Other
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South 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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allele count: 0
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

MQ
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SIO_000300: 5.944e1

InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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DP
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QD
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MQRankSum
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FS
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SIO_000300: 8.115e0

ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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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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South 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: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

QD
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MQ
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ReadPosRankSum
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FS
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0.0e0
allele num: 66718
num of homozygotes: 0

African
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allele frequency: 0.0e0
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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

Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 2
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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
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.200909e6

FS
type: SiteQuality
SIO_000300: 1.654e0

MQRankSum
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: -8.652e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
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allele num: 906
num of homozygotes: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 8.992536194958184e-5
allele num: 66722
num of homozygotes: 0

South Asian
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East Asian
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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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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: 6612
num of homozygotes: 0

FS
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SIO_000300: 0.0e0

VQSLOD
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ClippingRankSum
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MQRankSum
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DP
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MQ
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QD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Other
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East Asian
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allele num: 8654
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Latino
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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DP
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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QD
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Non-Finnish)
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European (Finnish)
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allele num: 6612
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East Asian
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Other
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BaseQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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MQ
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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Latino
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ReadPosRankSum
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FS
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ClippingRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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Other
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South Asian
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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VQSLOD
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MQ
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QD
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DP
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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Latino
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allele frequency: 3.456619426201175e-4
allele num: 11572
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 9.617234083477592e-5
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European (Non-Finnish)
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allele count: 12
allele frequency: 1.798453330136083e-4
allele num: 66724
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East Asian
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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DP
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MQ
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BaseQRankSum
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FS
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.496268097479092e-5
allele num: 66722
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European (Finnish)
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Latino
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African
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Other
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South Asian
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East Asian
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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FS
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DP
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 10400
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Latino
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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European (Finnish)
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MQ
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VQSLOD
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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DP
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InbreedingCoeff
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11574
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Other
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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South Asian
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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FS
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MQRankSum
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MQ
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ClippingRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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Latino
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European (Non-Finnish)
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European (Finnish)
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South Asian
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MQ
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BaseQRankSum
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DP
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ReadPosRankSum
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FS
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MQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Finnish)
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South Asian
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East Asian
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African
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European (Non-Finnish)
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FS
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MQRankSum
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VQSLOD
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QD
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DP
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InbreedingCoeff
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BaseQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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African
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Latino
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European (Non-Finnish)
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Other
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European (Finnish)
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MQRankSum
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VQSLOD
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QD
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FS
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BaseQRankSum
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ClippingRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 51

GenotypeQuality
all individuals: 3660
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 35
allele frequency: 5.245017233628053e-4
allele num: 66730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.028100775193798e-4
allele num: 16512
num of homozygotes: 1

Latino
type: Population
allele count: 8
allele frequency: 6.912044237083118e-4
allele num: 11574
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.923076923076923e-4
allele num: 10400
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.41e-2

MQ
type: SiteQuality
SIO_000300: 5.81e1

VQSLOD
type: SiteQuality
SIO_000300: 5.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

QD
type: SiteQuality
SIO_000300: 1.837e1

DP
type: SiteQuality
SIO_000300: 2.204908e6

GenotypeQuality
all individuals: 7275
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 15316
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.199899e6

QD
type: SiteQuality
SIO_000300: 1.426e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.48e-1

MQ
type: SiteQuality
SIO_000300: 6.036e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.91e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 2.204113e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.217e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

MQRankSum
type: SiteQuality
SIO_000300: 4.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.1e0

QD
type: SiteQuality
SIO_000300: 1.292e1

GenotypeQuality
all individuals: 7272
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15319
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variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 20
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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: 33
bin: 2.5e0
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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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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18502
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variant carriers: 0

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

African
type: Population
allele count: 3
allele frequency: 2.885725278953444e-4
allele num: 10396
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.500315022051544e-5
allele num: 66662
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.349e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: -1.256e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.64e-2

DP
type: SiteQuality
SIO_000300: 2.205287e6

QD
type: SiteQuality
SIO_000300: 2.487e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.27e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
all individuals: 3663
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GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 7
allele frequency: 4.239341085271318e-4
allele num: 16512
num of homozygotes: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

DP
type: SiteQuality
SIO_000300: 2.202187e6

MQRankSum
type: SiteQuality
SIO_000300: -6.11e-1

FS
type: SiteQuality
SIO_000300: 2.668e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.76e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.709e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.73e-1

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.159e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.97e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 2.202146e6

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.877e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 15329
bin: 9.75e1
variant carriers: 1

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.326e1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.20225e6

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.75e1
variant carriers: 0

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

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

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

Latino
type: Population
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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.326e1

InbreedingCoeff
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SIO_000300: 0.0e0

ReadPosRankSum
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BaseQRankSum
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SIO_000300: 2.08e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

VQSLOD
type: SiteQuality
SIO_000300: -1.248e0

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

DP
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SIO_000300: 2.20225e6

FS
type: SiteQuality
SIO_000300: 1.057e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -3.14e-1

FS
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ReadPosRankSum
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QD
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MQ
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SIO_000300: 5.994e1

VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -8.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

InbreedingCoeff
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SIO_000300: 0.0e0

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

Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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QD
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.908e1

MQRankSum
type: SiteQuality
SIO_000300: -6.97e-1

ClippingRankSum
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SIO_000300: 4.81e-1

BaseQRankSum
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SIO_000300: -3.816e0

VQSLOD
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SIO_000300: -5.244e-1

FS
type: SiteQuality
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DP
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SIO_000300: 2.202204e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6612
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997332374186974e-5
allele num: 66726
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: 5
allele frequency: 5.777675063554426e-4
allele num: 8654
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 frequency: 0.0e0
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Other
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InbreedingCoeff
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SIO_000300: -1.0e-4

FS
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QD
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ReadPosRankSum
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SIO_000300: 5.12e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

BaseQRankSum
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SIO_000300: 2.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

VQSLOD
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DP
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SIO_000300: 2.202406e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

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

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

African
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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

South Asian
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QD
type: SiteQuality
SIO_000300: 1.321e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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MQ
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VQSLOD
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ReadPosRankSum
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DP
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MQRankSum
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11572
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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East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
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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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South Asian
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QD
type: SiteQuality
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DP
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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FS
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Latino
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num of homozygotes: 0

European (Finnish)
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Other
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South Asian
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European (Non-Finnish)
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ClippingRankSum
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QD
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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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FS
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
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allele num: 66714
num of homozygotes: 0

Latino
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East Asian
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allele num: 8654
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South Asian
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African
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Other
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VQSLOD
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MQ
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FS
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DP
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ClippingRankSum
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BaseQRankSum
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QD
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

African
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South Asian
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East Asian
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.997781641585227e-5
allele num: 66716
num of homozygotes: 0

Latino
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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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VQSLOD
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BaseQRankSum
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FS
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SIO_000300: 7.823e0

MQRankSum
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SIO_000300: 6.72e-1

InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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DP
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

Other
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allele count: 0
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num of homozygotes: 0

ClippingRankSum
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MQRankSum
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MQ
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QD
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ReadPosRankSum
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.056935190793458e-5
allele num: 16510
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 frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
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allele count: 52
allele frequency: 4.494382022471911e-3
allele num: 11570
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

ReadPosRankSum
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SIO_000300: 3.38e-1

QD
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MQ
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VQSLOD
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InbreedingCoeff
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SIO_000300: 5.2e-2

ClippingRankSum
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SIO_000300: -2.69e-1

MQRankSum
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FS
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SIO_000300: 0.0e0

BaseQRankSum
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DP
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SIO_000300: 2.20455e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 8654
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.28e-1

FS
type: SiteQuality
SIO_000300: 8.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.7e-1

InbreedingCoeff
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QD
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MQRankSum
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SIO_000300: 1.81e-1

MQ
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.188e0

DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.496807266840543e-5
allele num: 66714
num of homozygotes: 0

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

African
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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
allele num: 8654
num of homozygotes: 0

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

South Asian
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allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

Other
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num of homozygotes: 0

ReadPosRankSum
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SIO_000300: 4.9e-1

FS
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QD
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ClippingRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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MQ
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SIO_000300: 5.96e1

MQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
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allele num: 10384
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16508
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Latino
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allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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DP
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MQ
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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VQSLOD
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QD
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MQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

South Asian
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East Asian
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African
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Other
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European (Finnish)
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European (Non-Finnish)
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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DP
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BaseQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6614
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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Other
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allele num: 906
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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

FS
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BaseQRankSum
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SIO_000300: 1.59e0

ReadPosRankSum
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SIO_000300: 8.699999999999999e-2

MQRankSum
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DP
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MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

VQSLOD
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SIO_000300: 1.49e0

InbreedingCoeff
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SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.049e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2

European (Non-Finnish)
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allele count: 2
allele frequency: 2.998410842253606e-5
allele num: 66702
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8654
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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Other
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allele count: 0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.91e-1

MQRankSum
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FS
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SIO_000300: 5.26e-1

InbreedingCoeff
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VQSLOD
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BaseQRankSum
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SIO_000300: 4.65e-1

ReadPosRankSum
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QD
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DP
type: SiteQuality
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

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

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

East Asian
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allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

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

ReadPosRankSum
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SIO_000300: -1.059e0

DP
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InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
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FS
type: SiteQuality
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ClippingRankSum
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MQ
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BaseQRankSum
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VQSLOD
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QD
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SIO_000300: 1.628e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 8648
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.200911e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.976e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

FS
type: SiteQuality
SIO_000300: 1.775e0

MQRankSum
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SIO_000300: -2.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

VQSLOD
type: SiteQuality
SIO_000300: -3.092e-1

QD
type: SiteQuality
SIO_000300: 8.07e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

South Asian
type: Population
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
allele num: 11568
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049884512703603e-4
allele num: 66674
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.199635e6

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
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VQSLOD
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MQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 8.93e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 902
num of homozygotes: 0

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

Latino
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allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

South Asian
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African
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
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MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

ClippingRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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BaseQRankSum
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VQSLOD
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DP
type: SiteQuality
SIO_000300: 2.197825e6

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 16454
num of homozygotes: 0

Other
type: Population
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allele num: 900
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
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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African
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allele frequency: 0.0e0
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East Asian
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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DP
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MQ
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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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: 4.504369238161016e-5
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European (Finnish)
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Other
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DP
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MQ
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ClippingRankSum
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QD
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FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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allele num: 6614
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African
type: Population
allele count: 2
allele frequency: 1.933488012374323e-4
allele num: 10344
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 48
allele frequency: 7.207640098504415e-4
allele num: 66596
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.052222030088189e-4
allele num: 11566
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 1.332e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.200185e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

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

GenotypeQuality
all individuals: 3396
bin: 7.25e1
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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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-1

FS
type: SiteQuality
SIO_000300: 6.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.065e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

QD
type: SiteQuality
SIO_000300: 1.24e1

DP
type: SiteQuality
SIO_000300: 2.195381e6

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

GenotypeQuality
all individuals: 5304
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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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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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15259
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3655
bin: 9.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.116207951070337e-5
allele num: 16350
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66534
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e0

DP
type: SiteQuality
SIO_000300: 2.191416e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.479e1

VQSLOD
type: SiteQuality
SIO_000300: 9.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.45e-1

GenotypeQuality
all individuals: 5276
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 138
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3655
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15256
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variant carriers: 1

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3352
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16944
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15958
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50879628232596e-5
allele num: 66278
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.448e0

QD
type: SiteQuality
SIO_000300: 1.153e1

MQRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.24e-1

DP
type: SiteQuality
SIO_000300: 2.177509e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.318e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 216
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6897
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 222
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16278
bin: 9.75e1
variant carriers: 2769

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5155
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variant carriers: 0

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

GenotypeQuality
all individuals: 2269
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variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1343
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3269
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4594
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3498
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16462
bin: 6.25e1
variant carriers: 1

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

Latino
type: Population
allele count: 183
allele frequency: 1.58496448986662e-2
allele num: 11546
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 80
allele frequency: 1.213592233009709e-2
allele num: 6592
num of homozygotes: 1

African
type: Population
allele count: 200
allele frequency: 1.947419668938656e-2
allele num: 10270
num of homozygotes: 3

East Asian
type: Population
allele count: 196
allele frequency: 2.271673620769587e-2
allele num: 8628
num of homozygotes: 4

South Asian
type: Population
allele count: 398
allele frequency: 2.510724198839263e-2
allele num: 15852
num of homozygotes: 7

European (Non-Finnish)
type: Population
allele count: 1723
allele frequency: 2.602404543257612e-2
allele num: 66208
num of homozygotes: 26

Other
type: Population
allele count: 39
allele frequency: 4.411764705882353e-2
allele num: 884
num of homozygotes: 2

DP
type: SiteQuality
SIO_000300: 2.276538e6

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.56e-1

QD
type: SiteQuality
SIO_000300: 1.392e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.93e0

FS
type: SiteQuality
SIO_000300: 1.225e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.19e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

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

GenotypeQuality
all individuals: 5155
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 216
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 16278
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4594
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2269
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3498
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6897
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66208
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.308352258390108e-5
allele num: 15852
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.24e-1

FS
type: SiteQuality
SIO_000300: 1.225e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.56e-1

QD
type: SiteQuality
SIO_000300: 1.392e1

DP
type: SiteQuality
SIO_000300: 2.276538e6

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2352
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5410
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7203
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variant carriers: 0

GenotypeQuality
all individuals: 3412
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variant carriers: 0

GenotypeQuality
all individuals: 1625
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GenotypeQuality
all individuals: 14079
bin: 9.75e1
variant carriers: 29

GenotypeQuality
all individuals: 4791
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GenotypeQuality
all individuals: 109
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GenotypeQuality
all individuals: 16990
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3654
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 4.235109054058142e-4
allele num: 66114
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15688
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.517911353976928e-4
allele num: 6588
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

QD
type: SiteQuality
SIO_000300: 1.27e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.84e-1

DP
type: SiteQuality
SIO_000300: 2.132038e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

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

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5419
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 14059
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 7216
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1718
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3655
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16949
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2352
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3413
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4794
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.796429399489915e-4
allele num: 8626
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.384880602732728e-5
allele num: 15662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512721991952319e-5
allele num: 66106
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.1e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.48e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 2.128537e6

QD
type: SiteQuality
SIO_000300: 1.249e1

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 290
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3655
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3413
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16949
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14059
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7216
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5419
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.948937828883259e-4
allele num: 10262
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: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15662
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.03e-1

DP
type: SiteQuality
SIO_000300: 2.128537e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 4.1e0

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.67e-1

QD
type: SiteQuality
SIO_000300: 1.249e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.48e-1

GenotypeQuality
all individuals: 366
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14054
bin: 9.75e1
variant carriers: 9

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3407
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3655
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65980
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

African
type: Population
allele count: 9
allele frequency: 8.7890625e-4
allele num: 10240
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15426
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

DP
type: SiteQuality
SIO_000300: 2.121205e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

QD
type: SiteQuality
SIO_000300: 1.179e1

FS
type: SiteQuality
SIO_000300: 5.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2205
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5412
bin: 7.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516162290011523e-5
allele num: 65956
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15342
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

QD
type: SiteQuality
SIO_000300: 2.765e1

DP
type: SiteQuality
SIO_000300: 2.118045e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.48e0

FS
type: SiteQuality
SIO_000300: 4.972e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.37e0

GenotypeQuality
all individuals: 15846
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5396
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3654
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15056
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519295047098146e-5
allele num: 65820
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.873e0

VQSLOD
type: SiteQuality
SIO_000300: 6.58e-1

FS
type: SiteQuality
SIO_000300: 2.061e0

DP
type: SiteQuality
SIO_000300: 2.109586e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

QD
type: SiteQuality
SIO_000300: 1.281e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 565
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variant carriers: 0

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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
all individuals: 14411
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14042
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 159
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.830908375933936e-5
allele num: 10172
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65508
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 3.248e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.067e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e-1

QD
type: SiteQuality
SIO_000300: 8.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.19e-1

DP
type: SiteQuality
SIO_000300: 2.090611e6

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6943
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14079
bin: 9.75e1
variant carriers: 64

GenotypeQuality
all individuals: 177
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3356
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3601
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5382
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variant carriers: 0

GenotypeQuality
all individuals: 14540
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 3
allele frequency: 3.562945368171022e-3
allele num: 842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 5.191473767788432e-4
allele num: 65492
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.685079034219212e-5
allele num: 11514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.38121546961326e-4
allele num: 14480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 24
allele frequency: 3.676470588235294e-3
allele num: 6528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.31e-1

QD
type: SiteQuality
SIO_000300: 1.668e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: 5.23e0

DP
type: SiteQuality
SIO_000300: 2.09137e6

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.42e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 76
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GenotypeQuality
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GenotypeQuality
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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: 3643
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529987760097919e-5
allele num: 65360
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.116e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.083974e6

QD
type: SiteQuality
SIO_000300: 1.273e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.561e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.526e0

MQRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

GenotypeQuality
all individuals: 14212
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
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variant carriers: 0

GenotypeQuality
all individuals: 59
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 76
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 606
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GenotypeQuality
all individuals: 4774
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529847321237341e-5
allele num: 65366
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14294
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.1064e1

VQSLOD
type: SiteQuality
SIO_000300: -1.339e0

DP
type: SiteQuality
SIO_000300: 2.085212e6