2-110919236-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110919236
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110919236
    reference: chr 2
allele count: 1
allele frequency: 8.280064915708939e-6
allele num: 120772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.895C>T
  hgvsp: ENSP00000402176.1:p.Leu299Phe
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.898C>T
  hgvsp: ENSP00000389879.2:p.Leu300Phe
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1066C>T
  hgvsp: ENSP00000313169.4:p.Leu356Phe
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1063C>T
  hgvsp: ENSP00000376953.3:p.Leu355Phe
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2499C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2483C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.709C>T
  hgvsp: ENSP00000347452.4:p.Leu237Phe
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45569
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu356Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

2-110919242-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110919242
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110919242
    reference: chr 2
allele count: 1
allele frequency: 8.292699107705576e-6
allele num: 120588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.703C>T
  hgvsp: ENSP00000347452.4:p.Pro235Ser
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.889C>T
  hgvsp: ENSP00000402176.1:p.Pro297Ser
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2477C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1060C>T
  hgvsp: ENSP00000313169.4:p.Pro354Ser
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2493C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1057C>T
  hgvsp: ENSP00000376953.3:p.Pro353Ser
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.892C>T
  hgvsp: ENSP00000389879.2:p.Pro298Ser
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro354Ser
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

2-110919244-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110919244
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110919244
    reference: chr 2
allele count: 1
allele frequency: 8.293111741387604e-6
allele num: 120582
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1058A>C
  hgvsp: ENSP00000313169.4:p.Gln353Pro
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2475A>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.887A>C
  hgvsp: ENSP00000402176.1:p.Gln296Pro
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.701A>C
  hgvsp: ENSP00000347452.4:p.Gln234Pro
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1055A>C
  hgvsp: ENSP00000376953.3:p.Gln352Pro
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2491A>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.890A>C
  hgvsp: ENSP00000389879.2:p.Gln297Pro
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45309
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln353Pro
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-110919245-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110919245
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110919245
    reference: chr 2
allele count: 1
allele frequency: 8.29737802854298e-6
allele num: 120520
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.886C>G
  hgvsp: ENSP00000402176.1:p.Gln296Glu
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.700C>G
  hgvsp: ENSP00000347452.4:p.Gln234Glu
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2490C>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1057C>G
  hgvsp: ENSP00000313169.4:p.Gln353Glu
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.889C>G
  hgvsp: ENSP00000389879.2:p.Gln297Glu
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1054C>G
  hgvsp: ENSP00000376953.3:p.Gln352Glu
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2474C>G
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6878
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln353Glu
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-110919252-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110919252
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110919252
    reference: chr 2
allele count: 1
allele frequency: 8.316838270762986e-6
allele num: 120238
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1050C>A
  hgvsp: ENSP00000313169.4:p.Tyr350Ter
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2467C>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.882C>A
  hgvsp: ENSP00000389879.2:p.Tyr294Ter
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1047C>A
  hgvsp: ENSP00000376953.3:p.Tyr349Ter
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2483C>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.879C>A
  hgvsp: ENSP00000402176.1:p.Tyr293Ter
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.693C>A
  hgvsp: ENSP00000347452.4:p.Tyr231Ter
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr350Ter
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-110919262-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110919262
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110919262
    reference: chr 2
allele count: 1
allele frequency: 8.400114241553686e-6
allele num: 119046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.869G>A
  hgvsp: ENSP00000402176.1:p.Arg290Gln
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2473G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.872G>A
  hgvsp: ENSP00000389879.2:p.Arg291Gln
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2457G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1037G>A
  hgvsp: ENSP00000376953.3:p.Arg346Gln
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.683G>A
  hgvsp: ENSP00000347452.4:p.Arg228Gln
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1040G>A
  hgvsp: ENSP00000313169.4:p.Arg347Gln
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg347Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

2-110919263-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110919263
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110919263
    reference: chr 2
allele count: 1
allele frequency: 8.412551526878102e-6
allele num: 118870
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2456C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1036C>T
  hgvsp: ENSP00000376953.3:p.Arg346Ter
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2472C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1039C>T
  hgvsp: ENSP00000313169.4:p.Arg347Ter
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.682C>T
  hgvsp: ENSP00000347452.4:p.Arg228Ter
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.868C>T
  hgvsp: ENSP00000402176.1:p.Arg290Ter
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.871C>T
  hgvsp: ENSP00000389879.2:p.Arg291Ter
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 31624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3977
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42718
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg347Ter
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

2-110919267-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110919267
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110919267
    reference: chr 2
allele count: 5
allele frequency: 4.23448906654923e-5
allele num: 118078
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2468A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2452A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.864A>G
  hgvsp: ENST00000417665.1:c.864A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1032A>G
  hgvsp: ENST00000393272.3:c.1032A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.678A>G
  hgvsp: ENST00000355301.4:c.678A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.867A>G
  hgvsp: ENST00000445609.2:c.867A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1035A>G
  hgvsp: ENST00000316534.4:c.1035A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41557
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3582
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln345Gln
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

2-110919268-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110919268
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110919268
    reference: chr 2
allele count: 1
allele frequency: 8.523550570225534e-6
allele num: 117322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.863A>G
  hgvsp: ENSP00000402176.1:p.Gln288Arg
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.866A>G
  hgvsp: ENSP00000389879.2:p.Gln289Arg
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1031A>G
  hgvsp: ENSP00000376953.3:p.Gln344Arg
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2451A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.677A>G
  hgvsp: ENSP00000347452.4:p.Gln226Arg
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1034A>G
  hgvsp: ENSP00000313169.4:p.Gln345Arg
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2467A>G
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6875
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40025
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln345Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

2-110919275-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110919275
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110919275
    reference: chr 2
allele count: 1
allele frequency: 8.745998705592191e-6
allele num: 114338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.857-1G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2461-1G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.671-1G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.860-1G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2445-1G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1025-1G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1028-1G>A
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6874
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1028-1G>A
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: C
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

2-110919278-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110919278
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110919278
    reference: chr 2
allele count: 1
allele frequency: 8.815077308227993e-6
allele num: 113442
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2461-4T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2445-4T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.671-4T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.857-4T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.860-4T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1025-4T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1028-4T>C
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3595
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33990
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1028-4T>C
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/2-110919285-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110919285
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110919285
    reference: chr 2
allele count: 2
allele frequency: 1.822821728034998e-5
allele num: 109720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1025-11G>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.671-11G>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.860-11G>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2461-11G>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1028-11G>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.857-11G>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2445-11G>T
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10229
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2640
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2619
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13720
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-110919288-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110919288
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110919288
    reference: chr 2
allele count: 1
allele frequency: 9.427736400490242e-6
allele num: 106070
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.860-14A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.857-14A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1025-14A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2445-14A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2461-14A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.671-14A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1028-14A>G
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7387
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5044
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4244
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

2-110919293-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110919293
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110919293
    reference: chr 2
allele count: 4
allele frequency: 3.837961274970736e-5
allele num: 104222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1025-19G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.860-19G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.671-19G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.857-19G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2445-19G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2461-19G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1028-19G>A
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7972
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6965
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5748
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18512
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6875
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

2-110919294-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110919294
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110919294
    reference: chr 2
allele count: 6
allele frequency: 5.76191756616602e-5
allele num: 104132
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.860-20A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.857-20A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.671-20A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2445-20A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2461-20A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1028-20A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1025-20A>G
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7965
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6876
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5744
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4575
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

2-110919303-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110919303
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110919303
    reference: chr 2
allele count: 1
allele frequency: 1.003230401894099e-5
allele num: 99678
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.857-29A>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1028-29A>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.671-29A>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2445-29A>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2461-29A>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1025-29A>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.860-29A>C
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21571
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8812
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7732
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

2-110919306-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110919306
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110919306
    reference: chr 2
allele count: 1
allele frequency: 1.024779160091e-5
allele num: 97582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.671-32G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2445-32G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.860-32G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.857-32G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1025-32G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2461-32G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1028-32G>A
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9740
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7475
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD

2-110919306-CAAAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110919306
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110919302
    reference: chr 2
allele count: 15
allele frequency: 1.537168740136501e-4
allele num: 97582
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.857-36_857-33delCTTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1028-36_1028-33delCTTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2461-36_2461-33delCTTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2445-36_2445-33delCTTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1025-36_1025-33delCTTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.860-36_860-33delCTTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.671-36_671-33delCTTT
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9740
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21223
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6551
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4562
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6883
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17974
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: CAAAG
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

2-110919308-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110919308
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110919308
    reference: chr 2
allele count: 1485
allele frequency: 1.531306715063521e-2
allele num: 96976
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.860-34T>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.671-34T>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2461-34T>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.857-34T>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2445-34T>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1028-34T>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1025-34T>A
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 2.25e1
  variant carriers: 286
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9927
  bin: 7.5e0
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 10169
  bin: 1.75e1
  variant carriers: 299
genotype depth: GenotypeDepth
  all individuals: 20961
  bin: 1.25e1
  variant carriers: 314
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 3.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 4.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 3.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 5.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 2.75e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 1.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5199
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 7.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 8.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 5.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 17563
  bin: 2.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 7482
  bin: 3.25e1
  variant carriers: 10
num of homozygotes: 116
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

2-110919311-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110919311
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110919311
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 94810
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1025-37T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2461-37T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2445-37T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.671-37T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.857-37T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.860-37T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1028-37T>C
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10722
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10854
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6811
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16706
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-110919312-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110919312
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110919312
    reference: chr 2
allele count: 1
allele frequency: 1.069495839661184e-5
allele num: 93502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2445-38T>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.860-38T>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1025-38T>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1028-38T>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.857-38T>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.671-38T>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2461-38T>A
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11081
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19923
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1915
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3491
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1996
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15673
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

2-110919321-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110919321
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110919321
    reference: chr 2
allele count: 31829
allele frequency: 3.613318499682136e-1
allele num: 88088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.671-47G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1028-47G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.857-47G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2445-47G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.860-47G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2461-47G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1025-47G>A
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.25e1
  variant carriers: 363
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.25e1
  variant carriers: 555
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 2.5e0
  variant carriers: 332
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 2.25e1
  variant carriers: 2488
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 4.75e1
  variant carriers: 646
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 3.25e1
  variant carriers: 688
genotype depth: GenotypeDepth
  all individuals: 18657
  bin: 1.25e1
  variant carriers: 10145
genotype depth: GenotypeDepth
  all individuals: 12981
  bin: 7.5e0
  variant carriers: 5650
genotype depth: GenotypeDepth
  all individuals: 11008
  bin: 1.75e1
  variant carriers: 6541
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 2.75e1
  variant carriers: 1086
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 152
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 3.75e1
  variant carriers: 630
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.75e1
  variant carriers: 609
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.75e1
  variant carriers: 469
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 262
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 5.25e1
  variant carriers: 655
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 262
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 6.25e1
  variant carriers: 535
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 8.75e1
  variant carriers: 548
genotype quality: GenotypeQuality
  all individuals: 7087
  bin: 2.25e1
  variant carriers: 884
genotype quality: GenotypeQuality
  all individuals: 24318
  bin: 9.75e1
  variant carriers: 21922
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 7.5e0
  variant carriers: 211
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 2.75e1
  variant carriers: 584
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 5.25e1
  variant carriers: 665
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 2.5e0
  variant carriers: 104
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 6.25e1
  variant carriers: 527
genotype quality: GenotypeQuality
  all individuals: 4165
  bin: 3.25e1
  variant carriers: 1032
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 1.75e1
  variant carriers: 599
num of homozygotes: 5859
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

2-110919324-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110919324
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110919324
    reference: chr 2
allele count: 1
allele frequency: 1.185873870455138e-5
allele num: 84326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.671-50T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1025-50T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2461-50T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1028-50T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2445-50T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.860-50T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.857-50T>C
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7890
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5918
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5012
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

2-110920578-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920578
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920578
    reference: chr 2
allele count: 3
allele frequency: 2.639404550333445e-5
allele num: 113662
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.859+47A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2444+47A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2460+47A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.670+47A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1027+47A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.856+47A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1024+47A>G
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13694
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11889
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4913
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14626
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3426
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4180
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-110920584-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920584
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920584
    reference: chr 2
allele count: 1
allele frequency: 8.791672527781685e-6
allele num: 113744
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1027+41C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.859+41C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2460+41C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1024+41C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.856+41C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.670+41C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2444+41C>T
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4426
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3667
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD

2-110920588-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920588
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920588
    reference: chr 2
allele count: 1
allele frequency: 8.755034144633164e-6
allele num: 114220
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1027+37A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.856+37A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.859+37A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2444+37A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1024+37A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.670+37A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2460+37A>G
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21378
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24207
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3691
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3694
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1783
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

2-110920591-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920591
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920591
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 114460
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.856+34A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1024+34A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.859+34A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1027+34A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2444+34A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2460+34A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.670+34A>G
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26331
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3791
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ

2-110920591-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920591
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920591
    reference: chr 2
allele count: 546
allele frequency: 4.77022540625546e-3
allele num: 114460
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.856+34A>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.670+34A>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1027+34A>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2444+34A>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.859+34A>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2460+34A>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1024+34A>C
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 1.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 3.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 8496
  bin: 2.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 7523
  bin: 1.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 3.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 23139
  bin: 2.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 9.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 8.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3885
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 26331
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9978
  bin: 9.75e1
  variant carriers: 509
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 17
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/2-110920601-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920601
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920601
    reference: chr 2
allele count: 11
allele frequency: 9.502090459901178e-5
allele num: 115764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.859+24G>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2460+24G>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2444+24G>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.670+24G>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.856+24G>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1027+24G>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1024+24G>T
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 26244
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30695
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

2-110920601-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920601
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920601
    reference: chr 2
allele count: 8
allele frequency: 6.910611243564493e-5
allele num: 115764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.670+24G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.859+24G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1024+24G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.856+24G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1027+24G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2460+24G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2444+24G>A
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26244
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10164
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30695
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

2-110920603-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920603
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920603
    reference: chr 2
allele count: 1
allele frequency: 8.605703860518751e-6
allele num: 116202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1024+22C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.856+22C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.670+22C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2460+22C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1027+22C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2444+22C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.859+22C>T
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4220
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9602
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/2-110920607-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920607
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920607
    reference: chr 2
allele count: 1
allele frequency: 8.561350638676758e-6
allele num: 116804
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.859+18G>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.670+18G>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1027+18G>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2460+18G>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2444+18G>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.856+18G>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1024+18G>T
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27637
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9603
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2643
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

2-110920610-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920610
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920610
    reference: chr 2
allele count: 1
allele frequency: 8.538251366120219e-6
allele num: 117120
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1024+15T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1027+15T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.859+15T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.856+15T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.670+15T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2444+15T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2460+15T>C
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4333
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9588
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 4.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

2-110920617-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920617
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920617
    reference: chr 2
allele count: 1
allele frequency: 8.440670526866655e-6
allele num: 118474
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.670+8G>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1027+8G>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1024+8G>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2460+8G>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2444+8G>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.859+8G>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.856+8G>C
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9612
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1027+8G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

2-110920617-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920617
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920617
    reference: chr 2
allele count: 2
allele frequency: 1.688134105373331e-5
allele num: 118474
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1024+8G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.859+8G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.856+8G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.670+8G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2460+8G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2444+8G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1027+8G>A
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12230
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1027+8G>A
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

2-110920618-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920618
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920618
    reference: chr 2
allele count: 1
allele frequency: 8.427865895797866e-6
allele num: 118654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.856+7C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2444+7C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.670+7C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1024+7C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2460+7C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.859+7C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1027+7C>T
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37493
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9607
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1027+7C>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-110920620-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920620
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920620
    reference: chr 2
allele count: 134
allele frequency: 1.126391177162839e-3
allele num: 118964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2460+5T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.670+5T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2444+5T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.856+5T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1024+5T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1027+5T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.859+5T>C
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30222
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12592
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 9.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9689
  bin: 9.75e1
  variant carriers: 130
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1027+5T>C
num of homozygotes: 2
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP

2-110920625-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920625
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920625
    reference: chr 2
allele count: 13
allele frequency: 1.088303251515253e-4
allele num: 119452
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2444G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1027G>A
  hgvsp: ENSP00000313169.4:p.Gly343Arg
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.670G>A
  hgvsp: ENSP00000347452.4:p.Gly224Arg
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1024G>A
  hgvsp: ENSP00000376953.3:p.Gly342Arg
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.859G>A
  hgvsp: ENSP00000389879.2:p.Gly287Arg
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.856G>A
  hgvsp: ENSP00000402176.1:p.Gly286Arg
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2460G>A
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30663
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38851
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly343Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-110920648-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920648
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920648
    reference: chr 2
allele count: 120
allele frequency: 9.953715224207435e-4
allele num: 120558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2437C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.836C>T
  hgvsp: ENSP00000389879.2:p.Thr279Met
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.1004C>T
  hgvsp: ENSP00000313169.4:p.Thr335Met
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.1001C>T
  hgvsp: ENSP00000376953.3:p.Thr334Met
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.833C>T
  hgvsp: ENSP00000402176.1:p.Thr278Met
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.647C>T
  hgvsp: ENSP00000347452.4:p.Thr216Met
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2421C>T
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 31189
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 9.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13667
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40328
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr335Met
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

2-110920658-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920658
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920658
    reference: chr 2
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.637A>T
  hgvsp: ENSP00000347452.4:p.Arg213Trp
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2411A>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.994A>T
  hgvsp: ENSP00000313169.4:p.Arg332Trp
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.991A>T
  hgvsp: ENSP00000376953.3:p.Arg331Trp
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.823A>T
  hgvsp: ENSP00000402176.1:p.Arg275Trp
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.826A>T
  hgvsp: ENSP00000389879.2:p.Arg276Trp
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2427A>T
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9590
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4794
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg332Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum

2-110920663-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920663
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920663
    reference: chr 2
allele count: 1
allele frequency: 8.279653579294243e-6
allele num: 120778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2406G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.821G>A
  hgvsp: ENSP00000389879.2:p.Gly274Glu
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2422G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.986G>A
  hgvsp: ENSP00000376953.3:p.Gly329Glu
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.818G>A
  hgvsp: ENSP00000402176.1:p.Gly273Glu
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.632G>A
  hgvsp: ENSP00000347452.4:p.Gly211Glu
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.989G>A
  hgvsp: ENSP00000313169.4:p.Gly330Glu
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9591
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly330Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

2-110920667-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920667
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920667
    reference: chr 2
allele count: 6
allele frequency: 4.967380865648906e-5
allele num: 120788
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.817G>A
  hgvsp: ENSP00000389879.2:p.Ala273Thr
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.985G>A
  hgvsp: ENSP00000313169.4:p.Ala329Thr
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2402G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.814G>A
  hgvsp: ENSP00000402176.1:p.Ala272Thr
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.628G>A
  hgvsp: ENSP00000347452.4:p.Ala210Thr
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2418G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.982G>A
  hgvsp: ENSP00000376953.3:p.Ala328Thr
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31209
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9594
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Ala329Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

2-110920673-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920673
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920673
    reference: chr 2
allele count: 4
allele frequency: 3.310764952242215e-5
allele num: 120818
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.976A>G
  hgvsp: ENSP00000376953.3:p.Ile326Val
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.979A>G
  hgvsp: ENSP00000313169.4:p.Ile327Val
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.622A>G
  hgvsp: ENSP00000347452.4:p.Ile208Val
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2396A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.811A>G
  hgvsp: ENSP00000389879.2:p.Ile271Val
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.808A>G
  hgvsp: ENSP00000402176.1:p.Ile270Val
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2412A>G
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4791
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile327Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-110920676-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920676
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920676
    reference: chr 2
allele count: 1
allele frequency: 8.27787159365584e-6
allele num: 120804
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.976G>A
  hgvsp: ENSP00000313169.4:p.Ala326Thr
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2409G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.805G>A
  hgvsp: ENSP00000402176.1:p.Ala269Thr
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2393G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.973G>A
  hgvsp: ENSP00000376953.3:p.Ala325Thr
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.808G>A
  hgvsp: ENSP00000389879.2:p.Ala270Thr
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.619G>A
  hgvsp: ENSP00000347452.4:p.Ala207Thr
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40697
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala326Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ

2-110920679-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920679
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920679
    reference: chr 2
allele count: 3
allele frequency: 2.483649308717609e-5
allele num: 120790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.802G>A
  hgvsp: ENSP00000402176.1:p.Gly268Arg
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.973G>A
  hgvsp: ENSP00000313169.4:p.Gly325Arg
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.616G>A
  hgvsp: ENSP00000347452.4:p.Gly206Arg
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2390G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.805G>A
  hgvsp: ENSP00000389879.2:p.Gly269Arg
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.970G>A
  hgvsp: ENSP00000376953.3:p.Gly324Arg
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2406G>A
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly325Arg
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

2-110920681-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920681
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920681
    reference: chr 2
allele count: 29
allele frequency: 2.401497209294622e-4
allele num: 120758
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.803T>C
  hgvsp: ENSP00000389879.2:p.Met268Thr
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2404T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.614T>C
  hgvsp: ENSP00000347452.4:p.Met205Thr
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.971T>C
  hgvsp: ENSP00000313169.4:p.Met324Thr
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.800T>C
  hgvsp: ENSP00000402176.1:p.Met267Thr
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.968T>C
  hgvsp: ENSP00000376953.3:p.Met323Thr
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2388T>C
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 30986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14034
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9613
  bin: 9.75e1
  variant carriers: 29
hgvs: p.Met324Thr
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ

2-110920681-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920681
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920681
    reference: chr 2
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.968T>A
  hgvsp: ENSP00000376953.3:p.Met323Lys
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.800T>A
  hgvsp: ENSP00000402176.1:p.Met267Lys
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.803T>A
  hgvsp: ENSP00000389879.2:p.Met268Lys
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.614T>A
  hgvsp: ENSP00000347452.4:p.Met205Lys
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2388T>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.971T>A
  hgvsp: ENSP00000313169.4:p.Met324Lys
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2404T>A
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met324Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-110920683-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920683
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920683
    reference: chr 2
allele count: 27
allele frequency: 2.236321168850531e-4
allele num: 120734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.966G>A
  hgvsp: ENST00000393272.3:c.966G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2402G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.612G>A
  hgvsp: ENST00000355301.4:c.612G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.801G>A
  hgvsp: ENST00000445609.2:c.801G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2386G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.969G>A
  hgvsp: ENST00000316534.4:c.969G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.798G>A
  hgvsp: ENST00000417665.1:c.798G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14047
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40592
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4789
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr323Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

2-110920684-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920684
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920684
    reference: chr 2
allele count: 19
allele frequency: 1.574020379421755e-4
allele num: 120710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.611C>T
  hgvsp: ENSP00000347452.4:p.Thr204Met
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.797C>T
  hgvsp: ENSP00000402176.1:p.Thr266Met
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2401C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.965C>T
  hgvsp: ENSP00000376953.3:p.Thr322Met
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.968C>T
  hgvsp: ENSP00000313169.4:p.Thr323Met
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.800C>T
  hgvsp: ENSP00000389879.2:p.Thr267Met
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2385C>T
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30882
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14071
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr323Met
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: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

2-110920697-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920697
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920697
    reference: chr 2
allele count: 1
allele frequency: 8.305096006909839e-6
allele num: 120408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.598G>A
  hgvsp: ENSP00000347452.4:p.Asp200Asn
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2372G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.787G>A
  hgvsp: ENSP00000389879.2:p.Asp263Asn
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.784G>A
  hgvsp: ENSP00000402176.1:p.Asp262Asn
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.955G>A
  hgvsp: ENSP00000313169.4:p.Asp319Asn
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2388G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.952G>A
  hgvsp: ENSP00000376953.3:p.Asp318Asn
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9593
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp319Asn
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-110920701-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920701
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920701
    reference: chr 2
allele count: 1
allele frequency: 8.314625426124552e-6
allele num: 120270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.594T>G
  hgvsp: ENST00000355301.4:c.594T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2368T>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2384T>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.783T>G
  hgvsp: ENST00000445609.2:c.783T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.951T>G
  hgvsp: ENST00000316534.4:c.951T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.948T>G
  hgvsp: ENST00000393272.3:c.948T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.780T>G
  hgvsp: ENST00000417665.1:c.780T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr317Thr
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-110920708-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920708
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920708
    reference: chr 2
allele count: 1
allele frequency: 8.340005337603416e-6
allele num: 119904
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.776T>G
  hgvsp: ENSP00000389879.2:p.Ile259Arg
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.941T>G
  hgvsp: ENSP00000376953.3:p.Ile314Arg
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2377T>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.587T>G
  hgvsp: ENSP00000347452.4:p.Ile196Arg
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.773T>G
  hgvsp: ENSP00000402176.1:p.Ile258Arg
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.944T>G
  hgvsp: ENSP00000313169.4:p.Ile315Arg
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2361T>G
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9593
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38904
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4674
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile315Arg
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-110920716-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920716
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920716
    reference: chr 2
allele count: 1
allele frequency: 8.384619254439656e-6
allele num: 119266
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.940-4T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.586-7T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.772-7T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.772-4T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2353T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.940-7T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2369T>C
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
hgvs: c.940-4T>C
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

http://identifiers.org/exac.variant/2-110920717-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920717
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920717
    reference: chr 2
allele count: 1
allele frequency: 8.39560070523046e-6
allele num: 119110
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2352T>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2368T>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.940-8T>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.586-8T>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.772-8T>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.940-5T>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.772-5T>G
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4519
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36581
  bin: 6.25e1
  variant carriers: 0
hgvs: c.940-5T>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-110920717-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920717
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920717
    reference: chr 2
allele count: 2
allele frequency: 1.679120141046092e-5
allele num: 119110
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.586-8T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.772-8T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.940-5T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.772-5T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.940-8T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2368T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2352T>C
  variant of: http://identifiers.org/hgnc/7905
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4519
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36581
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9595
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
hgvs: c.940-5T>C
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum

2-110920723-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920723
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920723
    reference: chr 2
allele count: 5
allele frequency: 4.216491541717967e-5
allele num: 118582
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2362A>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.772-14A>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2346A>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.940-14A>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.772-11A>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.940-11A>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.586-14A>T
  variant of: http://identifiers.org/hgnc/7905
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26256
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP

2-110920725-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920725
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920725
    reference: chr 2
allele count: 5
allele frequency: 4.222331064534108e-5
allele num: 118418
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.940-13T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2344T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.586-16T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.940-16T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.772-13T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2360T>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.772-16T>C
  variant of: http://identifiers.org/hgnc/7905
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25679
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9596
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4389
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3686
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

2-110920729-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920729
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920729
    reference: chr 2
allele count: 1058
allele frequency: 8.969750406945198e-3
allele num: 117952
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.940-20G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2356G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.772-20G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2340G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.772-17G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.586-20G>A
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.940-17G>A
  variant of: http://identifiers.org/hgnc/7905
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 5.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 3.25e1
  variant carriers: 164
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 23890
  bin: 2.25e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 3.75e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 5361
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 12886
  bin: 2.75e1
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 4.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 1.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 4077
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 3.75e1
  variant carriers: 3
num of homozygotes: 12
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

2-110920742-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920742
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920742
    reference: chr 2
allele count: 16
allele frequency: 1.371154340560459e-4
allele num: 116690
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.586-33A>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2327A>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2343A>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.940-33A>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.940-30A>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.772-33A>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.772-30A>C
  variant of: http://identifiers.org/hgnc/7905
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10340
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15950
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4635
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2942
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21766
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

2-110920752-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920752
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920752
    reference: chr 2
allele count: 1
allele frequency: 8.680706262261498e-6
allele num: 115198
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.772-40A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2333A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2317A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.940-43A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.586-43A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.940-40A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.772-43A>G
  variant of: http://identifiers.org/hgnc/7905
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11457
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14194
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6364
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6062
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2731
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD

2-110920753-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920753
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920753
    reference: chr 2
allele count: 1
allele frequency: 8.690815546130848e-6
allele num: 115064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2332C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.940-41C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2316C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.586-44C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.940-44C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.772-41C>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.772-44C>T
  variant of: http://identifiers.org/hgnc/7905
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11444
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6042
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9558
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13563
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

2-110920758-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110920758
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110920758
    reference: chr 2
allele count: 14
allele frequency: 1.231505427420348e-4
allele num: 113682
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.940-49A>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.772-49A>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.2311A>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.940-46A>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.772-46A>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.2327A>C
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.586-49A>C
  variant of: http://identifiers.org/hgnc/7905
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12134
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11099
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4722
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6604
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6515
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-110922055-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110922055
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110922055
    reference: chr 2
allele count: 1
allele frequency: 8.381386616601851e-6
allele num: 119312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.1014G>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.585+210G>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.939+42G>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.771+210G>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.939+42G>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.1030G>T
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.771+210G>T
  variant of: http://identifiers.org/hgnc/7905
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2686
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

2-110922056-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110922056
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110922056
    reference: chr 2
allele count: 1
allele frequency: 8.347245409015026e-6
allele num: 119800
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.1013A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.939+41A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.1029A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.939+41A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.771+209A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.771+209A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.585+209A>G
  variant of: http://identifiers.org/hgnc/7905
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6009
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5243
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2672
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

2-110922059-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110922059
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110922059
    reference: chr 2
allele count: 1
allele frequency: 8.346827370916315e-6
allele num: 119806
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.1010A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.939+38A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.939+38A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.1026A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.585+206A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.771+206A>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.771+206A>G
  variant of: http://identifiers.org/hgnc/7905
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2763
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4468
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/2-110922064-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110922064
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110922065
    reference: chr 2
allele count: 45186
allele frequency: 4.327829285112252e-1
allele num: 104408
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.1020dupT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.1004dupT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.585+200dupT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.771+200dupT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.771+200dupT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.939+32dupT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.939+32dupT
  variant of: http://identifiers.org/hgnc/7905
canonical: false
consequence: non coding transcript exon
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 6.75e1
  variant carriers: 1353
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 1.75e1
  variant carriers: 1049
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 2.25e1
  variant carriers: 2026
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 2.75e1
  variant carriers: 3648
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.5e0
  variant carriers: 177
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 6.25e1
  variant carriers: 2116
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 238
genotype depth: GenotypeDepth
  all individuals: 8505
  bin: 4.25e1
  variant carriers: 7110
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7342
  bin: 3.25e1
  variant carriers: 5622
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 5.25e1
  variant carriers: 4633
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 1.25e1
  variant carriers: 564
genotype depth: GenotypeDepth
  all individuals: 8514
  bin: 3.75e1
  variant carriers: 6839
genotype depth: GenotypeDepth
  all individuals: 7082
  bin: 4.75e1
  variant carriers: 5962
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 9.75e1
  variant carriers: 1148
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 320
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 5.75e1
  variant carriers: 3245
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.25e1
  variant carriers: 418
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 7.25e1
  variant carriers: 855
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.75e1
  variant carriers: 555
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 3.75e1
  variant carriers: 918
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 8.75e1
  variant carriers: 1210
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 5.25e1
  variant carriers: 968
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 2.75e1
  variant carriers: 775
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 4.75e1
  variant carriers: 1052
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 4.25e1
  variant carriers: 1076
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 7.75e1
  variant carriers: 1096
genotype quality: GenotypeQuality
  all individuals: 31954
  bin: 9.75e1
  variant carriers: 29966
genotype quality: GenotypeQuality
  all individuals: 4266
  bin: 2.5e0
  variant carriers: 648
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 1.25e1
  variant carriers: 646
num of homozygotes: 10
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/2-110922064-C-CAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110922064
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110922066
    reference: chr 2
allele count: 3620
allele frequency: 3.467167266876101e-2
allele num: 104408
alternate allele: CAA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.939+31_939+32dupTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.585+199_585+200dupTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.771+199_771+200dupTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.1019_1020dupTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.771+199_771+200dupTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.1003_1004dupTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.939+31_939+32dupTT
  variant of: http://identifiers.org/hgnc/7905
canonical: false
consequence: non coding transcript exon
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 1.75e1
  variant carriers: 188
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 2.75e1
  variant carriers: 636
genotype depth: GenotypeDepth
  all individuals: 7342
  bin: 3.25e1
  variant carriers: 835
genotype depth: GenotypeDepth
  all individuals: 7082
  bin: 4.75e1
  variant carriers: 478
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 6.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 5.75e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8505
  bin: 4.25e1
  variant carriers: 622
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 6.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 2.25e1
  variant carriers: 404
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 5.25e1
  variant carriers: 262
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 1.25e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 8514
  bin: 3.75e1
  variant carriers: 796
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 8.75e1
  variant carriers: 96
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 5.75e1
  variant carriers: 136
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 3.25e1
  variant carriers: 169
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 2.25e1
  variant carriers: 329
genotype quality: GenotypeQuality
  all individuals: 31954
  bin: 9.75e1
  variant carriers: 1313
genotype quality: GenotypeQuality
  all individuals: 4266
  bin: 2.5e0
  variant carriers: 292
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 3.75e1
  variant carriers: 195
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 1.75e1
  variant carriers: 232
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 6.25e1
  variant carriers: 117
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 6.75e1
  variant carriers: 140
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/2-110922064-C-CAAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110922064
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110922067
    reference: chr 2
allele count: 388
allele frequency: 3.716190330242893e-3
allele num: 104408
alternate allele: CAAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.585+198_585+200dupTTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.1002_1004dupTTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.939+30_939+32dupTTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.771+198_771+200dupTTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.1018_1020dupTTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.771+198_771+200dupTTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.939+30_939+32dupTTT
  variant of: http://identifiers.org/hgnc/7905
canonical: false
consequence: non coding transcript exon
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 8505
  bin: 4.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 7342
  bin: 3.25e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 8514
  bin: 3.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 1.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 2.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7082
  bin: 4.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 2.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 5.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 6.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4266
  bin: 2.5e0
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 3.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 5.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 8.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 6.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 1.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 6.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 3.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 1.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 7.5e0
  variant carriers: 27
num of homozygotes: 1
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-110922064-C-CAAAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110922064
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110922068
    reference: chr 2
allele count: 60
allele frequency: 5.746686077695196e-4
allele num: 104408
alternate allele: CAAAA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.939+29_939+32dupTTTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.1001_1004dupTTTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.1017_1020dupTTTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.771+197_771+200dupTTTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.939+29_939+32dupTTTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.771+197_771+200dupTTTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.585+197_585+200dupTTTT
  variant of: http://identifiers.org/hgnc/7905
canonical: false
consequence: non coding transcript exon
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8514
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7342
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 8505
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7082
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 31954
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4266
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 6.25e1
  variant carriers: 3
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-110922064-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110922064
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110922063
    reference: chr 2
allele count: 2758
allele frequency: 2.641560033713891e-2
allele num: 104408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.771+200delT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.939+32delT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.585+200delT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.1020delT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.771+200delT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.1004delT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.939+32delT
  variant of: http://identifiers.org/hgnc/7905
canonical: false
consequence: non coding transcript exon
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 6.25e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.5e0
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 7.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 9.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 2.75e1
  variant carriers: 444
genotype depth: GenotypeDepth
  all individuals: 7342
  bin: 3.25e1
  variant carriers: 490
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 2.25e1
  variant carriers: 351
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 8514
  bin: 3.75e1
  variant carriers: 486
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 8505
  bin: 4.25e1
  variant carriers: 438
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 1.75e1
  variant carriers: 304
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 5.75e1
  variant carriers: 166
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 1.25e1
  variant carriers: 165
genotype depth: GenotypeDepth
  all individuals: 7082
  bin: 4.75e1
  variant carriers: 371
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 5.25e1
  variant carriers: 259
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 6.75e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 7.25e1
  variant carriers: 95
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 3.25e1
  variant carriers: 206
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 5.25e1
  variant carriers: 148
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 2.75e1
  variant carriers: 237
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 3.75e1
  variant carriers: 185
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 4.75e1
  variant carriers: 173
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 8.75e1
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 8.25e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 9.25e1
  variant carriers: 90
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 1.75e1
  variant carriers: 265
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: CA
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/2-110922064-CAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110922064
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110922062
    reference: chr 2
allele count: 123
allele frequency: 1.178070645927515e-3
allele num: 104408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.939+31_939+32delTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.939+31_939+32delTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.771+199_771+200delTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.771+199_771+200delTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.585+199_585+200delTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.1003_1004delTT
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.1019_1020delTT
  variant of: http://identifiers.org/hgnc/7905
canonical: false
consequence: non coding transcript exon
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8514
  bin: 3.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 2.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7342
  bin: 3.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 2.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8505
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7082
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 5.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 2.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 7.5e0
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 4.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 3.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 1.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 5.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 8.75e1
  variant carriers: 6
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: CAA
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-110922066-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110922066
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110922066
    reference: chr 2
allele count: 6
allele frequency: 1.178365214658863e-4
allele num: 50918
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000347452
  ensembl transcript: ENST00000355301
  gene symbol: NPHP1
  hgvsc: ENST00000355301.4:c.585+199T>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000389879
  ensembl transcript: ENST00000445609
  gene symbol: NPHP1
  hgvsc: ENST00000445609.2:c.771+199T>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000376953
  ensembl transcript: ENST00000393272
  gene symbol: NPHP1
  hgvsc: ENST00000393272.3:c.939+31T>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000496524
  gene symbol: NPHP1
  hgvsc: ENST00000496524.1:n.1019T>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000402176
  ensembl transcript: ENST00000417665
  gene symbol: NPHP1
  hgvsc: ENST00000417665.1:c.771+199T>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144061
  ensembl transcript: ENST00000461707
  gene symbol: NPHP1
  hgvsc: ENST00000461707.1:n.1003T>G
  variant of: http://identifiers.org/hgnc/7905
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144061
  ensembl protein: ENSP00000313169
  ensembl transcript: ENST00000316534
  gene symbol: NPHP1
  hgvsc: ENST00000316534.4:c.939+31T>G
  variant of: http://identifiers.org/hgnc/7905
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 973
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4198
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6881
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 671
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66350
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.682062858135092e-5
allele num: 11518
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.95e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

VQSLOD
type: SiteQuality
SIO_000300: -2.79e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.32e0

QD
type: SiteQuality
SIO_000300: 1.027e1

DP
type: SiteQuality
SIO_000300: 1.72756e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

GenotypeQuality
all individuals: 653
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4183
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45222
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66232
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

South Asian
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allele frequency: 6.10798924993892e-5
allele num: 16372
num of homozygotes: 0

FS
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 7.03e0

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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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
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allele frequency: 8.691117677733357e-5
allele num: 11506
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
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BaseQRankSum
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MQ
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FS
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MQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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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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Other
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allele num: 900
num of homozygotes: 0

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

South Asian
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allele frequency: 6.111722283339445e-5
allele num: 16362
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66188
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Latino
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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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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

QD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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MQ
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VQSLOD
type: SiteQuality
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DP
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ReadPosRankSum
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ClippingRankSum
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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Other
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.514646632940535e-5
allele num: 66022
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
type: SiteQuality
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DP
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-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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variant carriers: 1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65266
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10304
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Other
type: Population
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: 6532
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

DP
type: SiteQuality
SIO_000300: 1.700288e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.796e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.534966537729477e-5
allele num: 65148
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6524
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South Asian
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QD
type: SiteQuality
SIO_000300: 1.357e1

FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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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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South Asian
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allele frequency: 0.0e0
allele num: 15940
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele count: 1
allele frequency: 8.816787162757891e-5
allele num: 11342
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Other
type: Population
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African
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allele frequency: 3.902439024390244e-4
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64670
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.79e-1

MQRankSum
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BaseQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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QD
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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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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variant carriers: 0

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

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

Latino
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Other
type: Population
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African
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allele frequency: 9.790483649892304e-5
allele num: 10214
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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MQ
type: SiteQuality
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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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variant carriers: 0

Latino
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allele frequency: 9.009009009009009e-5
allele num: 11100
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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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

South Asian
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allele num: 15340
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.873e1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 4.543e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
SIO_000300: 1.026e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

DP
type: SiteQuality
SIO_000300: 1.591273e6

GenotypeQuality
all individuals: 761
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6875
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7796
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15026
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.36870473303015e-5
allele num: 59370
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.439e0

FS
type: SiteQuality
SIO_000300: 3.163e0

QD
type: SiteQuality
SIO_000300: 1.267e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

DP
type: SiteQuality
SIO_000300: 1.498644e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.02e-1

GenotypeQuality
all individuals: 2234
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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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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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6874
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variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7442
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.050861706599412e-4
allele num: 9516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.373493e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.291e1

VQSLOD
type: SiteQuality
SIO_000300: 3.61e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

GenotypeQuality
all individuals: 13458
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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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: 609
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variant carriers: 0

GenotypeQuality
all individuals: 2866
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55994
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6068
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 5.492996429552321e-4
allele num: 7282
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9382
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.223e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.359999999999999e0

QD
type: SiteQuality
SIO_000300: 1.385e1

DP
type: SiteQuality
SIO_000300: 1.336109e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.25e0

VQSLOD
type: SiteQuality
SIO_000300: -1.107e0

GenotypeQuality
all individuals: 1783
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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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variant carriers: 0

GenotypeQuality
all individuals: 484
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variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.575003575003575e-5
allele num: 55944
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.594131223211342e-4
allele num: 6066
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

QD
type: SiteQuality
SIO_000300: 1.565e1

MQRankSum
type: SiteQuality
SIO_000300: -6.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 1.334737e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 109
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7242
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4240
bin: 3.75e1
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: 1

GenotypeQuality
all individuals: 935
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variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.878287002253945e-5
allele num: 53240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5960
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6822
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9070
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

FS
type: SiteQuality
SIO_000300: 1.2486e1

MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.727e0

DP
type: SiteQuality
SIO_000300: 1.250666e6

QD
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
all individuals: 2325
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6551
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variant carriers: 0

GenotypeQuality
all individuals: 17974
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1118
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variant carriers: 0

GenotypeQuality
all individuals: 175
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 507
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 4562
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.925150161712613e-5
allele num: 51944
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8930
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6616
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13862
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.719e1

MQRankSum
type: SiteQuality
SIO_000300: -8.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.232317e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.109999999999999e0

GenotypeQuality
all individuals: 5226
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1347
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2325
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GenotypeQuality
all individuals: 175
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GenotypeQuality
all individuals: 600
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variant carriers: 0

GenotypeQuality
all individuals: 7475
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GenotypeQuality
all individuals: 490
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GenotypeQuality
all individuals: 679
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51944
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5886
num of homozygotes: 0

East Asian
type: Population
allele count: 15
allele frequency: 2.267230955259976e-3
allele num: 6616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8930
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13862
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-1

MQ
type: SiteQuality
SIO_000300: 5.719e1

VQSLOD
type: SiteQuality
SIO_000300: 4.47e0

MQRankSum
type: SiteQuality
SIO_000300: -8.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.232317e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.109999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

GenotypeQuality
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bin: 6.75e1
variant carriers: 13

GenotypeQuality
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bin: 2.5e0
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 16

GenotypeQuality
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variant carriers: 18

GenotypeQuality
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bin: 3.75e1
variant carriers: 12

GenotypeQuality
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bin: 4.75e1
variant carriers: 16

GenotypeQuality
all individuals: 5707
bin: 6.25e1
variant carriers: 18

GenotypeQuality
all individuals: 7894
bin: 9.75e1
variant carriers: 1250

GenotypeQuality
all individuals: 668
bin: 7.75e1
variant carriers: 17

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5882
num of homozygotes: 0

African
type: Population
allele count: 1338
allele frequency: 1.510498983969293e-1
allele num: 8858
num of homozygotes: 115

European (Non-Finnish)
type: Population
allele count: 63
allele frequency: 1.22126158259993e-3
allele num: 51586
num of homozygotes: 1

Other
type: Population
allele count: 3
allele frequency: 3.846153846153846e-3
allele num: 780
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.901915264074289e-4
allele num: 13784
num of homozygotes: 0

Latino
type: Population
allele count: 77
allele frequency: 8.072971272803523e-3
allele num: 9538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.48e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.286e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.221223e6

QD
type: SiteQuality
SIO_000300: 1.527e1

GenotypeQuality
all individuals: 1649
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variant carriers: 0

GenotypeQuality
all individuals: 4344
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GenotypeQuality
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GenotypeQuality
all individuals: 7822
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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: 5124
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variant carriers: 0

GenotypeQuality
all individuals: 5308
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5832
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13560
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.83e0

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.197437e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

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
all individuals: 6811
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GenotypeQuality
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GenotypeQuality
all individuals: 721
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5285
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GenotypeQuality
all individuals: 587
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5798
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49660
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.609787508048938e-4
allele num: 6212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13446
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.468e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.205e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.18e0

DP
type: SiteQuality
SIO_000300: 1.189389e6

VQSLOD
type: SiteQuality
SIO_000300: -2.395e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.637e0

GenotypeQuality
all individuals: 1542
bin: 1.25e1
variant carriers: 271

GenotypeQuality
all individuals: 1229
bin: 4.25e1
variant carriers: 480

GenotypeQuality
all individuals: 3121
bin: 3.75e1
variant carriers: 934

GenotypeQuality
all individuals: 858
bin: 8.25e1
variant carriers: 589

GenotypeQuality
all individuals: 733
bin: 7.75e1
variant carriers: 466

GenotypeQuality
all individuals: 838
bin: 6.75e1
variant carriers: 420

GenotypeQuality
all individuals: 1710
bin: 4.75e1
variant carriers: 741

GenotypeQuality
all individuals: 481
bin: 5.75e1
variant carriers: 410

GenotypeQuality
all individuals: 620
bin: 7.25e1
variant carriers: 410

GenotypeQuality
all individuals: 720
bin: 9.25e1
variant carriers: 492

East Asian
type: Population
allele count: 3375
allele frequency: 5.853277835587929e-1
allele num: 5766
num of homozygotes: 948

European (Finnish)
type: Population
allele count: 1360
allele frequency: 2.446923353724361e-1
allele num: 5558
num of homozygotes: 163

South Asian
type: Population
allele count: 6703
allele frequency: 5.080339548279521e-1
allele num: 13194
num of homozygotes: 1691

African
type: Population
allele count: 1670
allele frequency: 2.091159529176058e-1
allele num: 7986
num of homozygotes: 161

European (Non-Finnish)
type: Population
allele count: 15467
allele frequency: 3.33397999655113e-1
allele num: 46392
num of homozygotes: 2361

Other
type: Population
allele count: 275
allele frequency: 3.706199460916442e-1
allele num: 742
num of homozygotes: 56

Latino
type: Population
allele count: 2979
allele frequency: 3.525443786982249e-1
allele num: 8450
num of homozygotes: 479

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

DP
type: SiteQuality
SIO_000300: 1.179676e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-2

QD
type: SiteQuality
SIO_000300: 1.899e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.02e0

GenotypeQuality
all individuals: 2446
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12451
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3160
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5294
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1340
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6572
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44242
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.287664177182591e-4
allele num: 7766
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8192
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.115421e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.81e0

QD
type: SiteQuality
SIO_000300: 1.646e1

GenotypeQuality
all individuals: 3629
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5018
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1135
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9636
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 3
allele frequency: 3.041979314540661e-4
allele num: 9862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62954
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8072
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15048
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.38e-1

QD
type: SiteQuality
SIO_000300: 1.587e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

FS
type: SiteQuality
SIO_000300: 9.89e-1

DP
type: SiteQuality
SIO_000300: 1.652338e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

GenotypeQuality
all individuals: 9632
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 216
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21151
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2147
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1339
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3946
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.587150430117766e-5
allele num: 63006
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8080
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15040
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10584
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.943e0

VQSLOD
type: SiteQuality
SIO_000300: -9.944e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e0

DP
type: SiteQuality
SIO_000300: 1.686227e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.26e0

GenotypeQuality
all individuals: 134
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9635
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1586
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3825
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3909
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1372
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.012350678274954e-4
allele num: 9878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15106
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.005e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.45e-1

FS
type: SiteQuality
SIO_000300: 2.078e0

DP
type: SiteQuality
SIO_000300: 1.708086e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

QD
type: SiteQuality
SIO_000300: 1.303e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.57e0

GenotypeQuality
all individuals: 1282
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3885
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
all individuals: 1347
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variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2970
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9978
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 692
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1220
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9918
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15112
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8136
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63426
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.308e0

VQSLOD
type: SiteQuality
SIO_000300: 4.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.88e-2

FS
type: SiteQuality
SIO_000300: 8.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-2

QD
type: SiteQuality
SIO_000300: 1.411e1

MQRankSum
type: SiteQuality
SIO_000300: 2.73e-1

DP
type: SiteQuality
SIO_000300: 1.734705e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1138
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3791
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3295
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2970
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 357
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 429
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 627
bin: 9.25e1
variant carriers: 5

South Asian
type: Population
allele count: 2
allele frequency: 1.323451561672843e-4
allele num: 15112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.310945038312364e-4
allele num: 63426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8136
num of homozygotes: 0

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

Latino
type: Population
allele count: 21
allele frequency: 1.96961170512099e-3
allele num: 10662
num of homozygotes: 0

African
type: Population
allele count: 499
allele frequency: 5.031256301673725e-2
allele num: 9918
num of homozygotes: 16

Other
type: Population
allele count: 3
allele frequency: 3.597122302158274e-3
allele num: 834
num of homozygotes: 1

QD
type: SiteQuality
SIO_000300: 1.411e1

MQRankSum
type: SiteQuality
SIO_000300: 2.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.308e0

VQSLOD
type: SiteQuality
SIO_000300: 4.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.88e-2

FS
type: SiteQuality
SIO_000300: 8.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.734705e6

GenotypeQuality
all individuals: 631
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.5e0
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GenotypeQuality
all individuals: 2188
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9616
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 429
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1318
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9998
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 7.226382866903166e-4
allele num: 15222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64126
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8312
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

QD
type: SiteQuality
SIO_000300: 1.287e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.531e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.786803e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

GenotypeQuality
all individuals: 80
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9616
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 631
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4175
bin: 6.75e1
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GenotypeQuality
all individuals: 1318
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9998
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15222
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 7.382798080472499e-4
allele num: 10836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64126
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.287e1

FS
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.531e0

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-2

DP
type: SiteQuality
SIO_000300: 1.786803e6

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2965
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1978
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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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 31508
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.198178768272226e-4
allele num: 8346
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15294
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.567e0

VQSLOD
type: SiteQuality
SIO_000300: -4.816e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.79485e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0

GenotypeQuality
all individuals: 1614
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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64688
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15346
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.952229299363058e-5
allele num: 10048
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10968
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.549e-1

FS
type: SiteQuality
SIO_000300: 3.468e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.203e0

MQRankSum
type: SiteQuality
SIO_000300: -1.595e0

DP
type: SiteQuality
SIO_000300: 1.813615e6

QD
type: SiteQuality
SIO_000300: 1.407e1

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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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15416
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542781326174828e-5
allele num: 64818
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11038
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.32e2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

DP
type: SiteQuality
SIO_000300: 1.826734e6

QD
type: SiteQuality
SIO_000300: 3.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.458e2

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.662e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

GenotypeQuality
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bin: 2.5e0
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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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52592547379986e-5
allele num: 65534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.48e0

DP
type: SiteQuality
SIO_000300: 1.852907e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.348e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

QD
type: SiteQuality
SIO_000300: 1.192e1

GenotypeQuality
all individuals: 256
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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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: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1706
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GenotypeQuality
all individuals: 586
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.051850947599719e-5
allele num: 65534
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.48e0

QD
type: SiteQuality
SIO_000300: 1.192e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

DP
type: SiteQuality
SIO_000300: 1.852907e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.348e0

GenotypeQuality
all individuals: 427
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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
all individuals: 545
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GenotypeQuality
all individuals: 4587
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11206
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.788566953797964e-5
allele num: 10216
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15660
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65624
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.531e1

DP
type: SiteQuality
SIO_000300: 1.858221e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

GenotypeQuality
all individuals: 24
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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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bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65766
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 134
allele frequency: 8.522004578987535e-3
allele num: 15724
num of homozygotes: 2

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-2

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.891e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.91e-2

QD
type: SiteQuality
SIO_000300: 1.142e1

FS
type: SiteQuality
SIO_000300: 2.874e0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.866461e6

GenotypeQuality
all individuals: 1288
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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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bin: 9.75e1
variant carriers: 13

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.515243348081702e-4
allele num: 65996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
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African
type: Population
allele count: 3
allele frequency: 2.919992213354098e-4
allele num: 10274
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15844
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

QD
type: SiteQuality
SIO_000300: 1.468e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

FS
type: SiteQuality
SIO_000300: 2.083e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-2

DP
type: SiteQuality
SIO_000300: 1.871312e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

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
all individuals: 4785
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GenotypeQuality
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Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.523548707454332e-5
allele num: 66458
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.656237929702588e-5
allele num: 10356
num of homozygotes: 0

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

South Asian
type: Population
allele count: 112
allele frequency: 6.928977975748577e-3
allele num: 16164
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.215e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.896548e6

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

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
all individuals: 106
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503397678753984e-5
allele num: 66516
num of homozygotes: 0

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

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

Other
type: Population
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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: 6586
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.11e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.984e0

DP
type: SiteQuality
SIO_000300: 1.892849e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.85e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.118e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502990951994469e-5
allele num: 66534
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e0

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

QD
type: SiteQuality
SIO_000300: 1.143e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.893433e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.94e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.879999999999999e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 2
allele frequency: 1.231527093596059e-4
allele num: 16240
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.736412571627018e-4
allele num: 11518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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: 2
allele frequency: 3.005981903988938e-5
allele num: 66534
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.288e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.003e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-1

DP
type: SiteQuality
SIO_000300: 1.894338e6

VQSLOD
type: SiteQuality
SIO_000300: 4.24e-1

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.357e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

MQ
type: SiteQuality
SIO_000300: 5.949e1

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
all individuals: 421
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16250
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.011060351045924e-5
allele num: 66544
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.452e0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.19e-1

DP
type: SiteQuality
SIO_000300: 1.894238e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

QD
type: SiteQuality
SIO_000300: 1.357e1

MQRankSum
type: SiteQuality
SIO_000300: 3.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

GenotypeQuality
all individuals: 3
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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
all individuals: 1278
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502855425308085e-5
allele num: 66540
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.896e0

VQSLOD
type: SiteQuality
SIO_000300: -7.245e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.631e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e0

DP
type: SiteQuality
SIO_000300: 1.894028e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.02e-1

QD
type: SiteQuality
SIO_000300: 8.65e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 470
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variant carriers: 0

GenotypeQuality
all individuals: 642
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4793
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GenotypeQuality
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GenotypeQuality
all individuals: 40643
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GenotypeQuality
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GenotypeQuality
all individuals: 87
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GenotypeQuality
all individuals: 54
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variant carriers: 0

GenotypeQuality
all individuals: 9593
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variant carriers: 3

GenotypeQuality
all individuals: 64
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 3
allele frequency: 2.892402622445044e-4
allele num: 10372
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.893757e6

VQSLOD
type: SiteQuality
SIO_000300: -1.761e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.849e1

MQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.152e0

FS
type: SiteQuality
SIO_000300: 7.306e0

QD
type: SiteQuality
SIO_000300: 7.07e0

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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variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
num of homozygotes: 0

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

African
type: Population
allele count: 26
allele frequency: 2.506748939452372e-3
allele num: 10372
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: 1
allele frequency: 1.503307276007216e-5
allele num: 66520
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

DP
type: SiteQuality
SIO_000300: 1.894542e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

QD
type: SiteQuality
SIO_000300: 1.194e1

FS
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

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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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503307276007216e-5
allele num: 66520
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 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: 11520
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East Asian
type: Population
allele count: 0
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Other
type: Population
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DP
type: SiteQuality
SIO_000300: 1.894542e6

FS
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 1.194e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 4.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.73e-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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variant carriers: 1

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
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European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 3.75849419688496e-4
allele num: 66516
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.646922631680494e-5
allele num: 10366
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16220
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MQRankSum
type: SiteQuality
SIO_000300: 2.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.27e-1

DP
type: SiteQuality
SIO_000300: 1.894495e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.94e0

QD
type: SiteQuality
SIO_000300: 1.127e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-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
all individuals: 1364
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

East Asian
type: Population
allele count: 19
allele frequency: 2.199583236860384e-3
allele num: 8638
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66508
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.16e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.893921e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.61e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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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
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4724
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variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506931886678722e-5
allele num: 66360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.583e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.157e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 1.735e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.88719e6

FS
type: SiteQuality
SIO_000300: 7.438e0

MQRankSum
type: SiteQuality
SIO_000300: -8.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 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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bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.665571235260003e-5
allele num: 10346
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16090
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66298
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

FS
type: SiteQuality
SIO_000300: 4.3e-1

DP
type: SiteQuality
SIO_000300: 1.88412e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.784e0

QD
type: SiteQuality
SIO_000300: 1.293e1

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

MQ
type: SiteQuality
SIO_000300: 5.509e1

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15994
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.762705923589205e-5
allele num: 11412
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.392e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.05e0

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.66e-1

DP
type: SiteQuality
SIO_000300: 1.875012e6

MQ
type: SiteQuality
SIO_000300: 5.919e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.089e0

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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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.746588693957115e-5
allele num: 10260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15876
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.864e1

FS
type: SiteQuality
SIO_000300: 1.114e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.281e0

QD
type: SiteQuality
SIO_000300: 1.537e1

VQSLOD
type: SiteQuality
SIO_000300: -1.862e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.85871e6

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-1

GenotypeQuality
all individuals: 2578
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variant carriers: 0

GenotypeQuality
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variant carriers: 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
all individuals: 625
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variant carriers: 0

GenotypeQuality
all individuals: 967
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65698
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.819897689186806e-5
allele num: 11338
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15848
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
type: SiteQuality
SIO_000300: 1.312e0

QD
type: SiteQuality
SIO_000300: 1.553e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.233e0

DP
type: SiteQuality
SIO_000300: 1.853967e6

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.086e0

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.79e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

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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variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.336448598130841e-4
allele num: 8560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15848
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65698
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.79e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.233e0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.312e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
SIO_000300: 1.853967e6

QD
type: SiteQuality
SIO_000300: 1.553e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.086e0

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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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15778
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11272
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.901960784313725e-4
allele num: 10200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65416
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.016e1

VQSLOD
type: SiteQuality
SIO_000300: 4.77e0

DP
type: SiteQuality
SIO_000300: 1.836733e6

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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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.653217412600258e-5
allele num: 65332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15752
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.45e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.09e-1

DP
type: SiteQuality
SIO_000300: 1.828246e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

MQRankSum
type: SiteQuality
SIO_000300: 6.65e-1

FS
type: SiteQuality
SIO_000300: 2.023e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.577e1

GenotypeQuality
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variant carriers: 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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bin: 9.75e1
variant carriers: 1033

African
type: Population
allele count: 7
allele frequency: 6.900630914826499e-4
allele num: 10144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

Latino
type: Population
allele count: 41
allele frequency: 3.653537693815719e-3
allele num: 11222
num of homozygotes: 0

South Asian
type: Population
allele count: 73
allele frequency: 4.649089287988791e-3
allele num: 15702
num of homozygotes: 3

Other
type: Population
allele count: 9
allele frequency: 1.041666666666667e-2
allele num: 864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 247
allele frequency: 3.797662976629766e-2
allele num: 6504
num of homozygotes: 6

European (Non-Finnish)
type: Population
allele count: 681
allele frequency: 1.046597405790865e-2
allele num: 65068
num of homozygotes: 3

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-2

QD
type: SiteQuality
SIO_000300: 1.304e1

FS
type: SiteQuality
SIO_000300: 7.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.423e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

DP
type: SiteQuality
SIO_000300: 1.823712e6

GenotypeQuality
all individuals: 6919
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
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GenotypeQuality
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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: 16

GenotypeQuality
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GenotypeQuality
all individuals: 610
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GenotypeQuality
all individuals: 932
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11080
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10044
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.48408632199969e-4
allele num: 64410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8336
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.86e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

QD
type: SiteQuality
SIO_000300: 1.524e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

DP
type: SiteQuality
SIO_000300: 1.70369e6

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7137
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3575
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13196
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1162
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9558
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 425
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9928
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.571931589537223e-5
allele num: 63616
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8168
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10936
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.991e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 1.634113e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
SIO_000300: 3.274e0

QD
type: SiteQuality
SIO_000300: 9.91e0

GenotypeQuality
all individuals: 875
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3575
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6345
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2703
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.541077969649399e-5
allele num: 15288
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63540
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.634082e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.524e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.089e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

GenotypeQuality
all individuals: 511
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2433
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6684
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3630
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 910
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9569
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 628
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.232142857142857e-4
allele num: 62720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8028
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15146
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.382e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.95e-1

DP
type: SiteQuality
SIO_000300: 1.614069e6

MQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.424e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

GenotypeQuality
all individuals: 122
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2585
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3740
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2441
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37444
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2841
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524808636516117e-5
allele num: 65582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9964
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.171e1

MQ
type: SiteQuality
SIO_000300: 6.023e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.25e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.889e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

DP
type: SiteQuality
SIO_000300: 3.073519e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2878
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37501
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 481
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2764
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4151
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10050
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.078288353999514e-5
allele num: 16452
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.845e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

QD
type: SiteQuality
SIO_000300: 9.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.828e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

DP
type: SiteQuality
SIO_000300: 3.078202e6

VQSLOD
type: SiteQuality
SIO_000300: -1.973e0

GenotypeQuality
all individuals: 1174
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2665
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2672
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1699
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37501
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2878
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65874
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.178689297501179e-4
allele num: 8484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 3.082748e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.77e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.055e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

QD
type: SiteQuality
SIO_000300: 2.985e1

GenotypeQuality
all individuals: 1219
bin: 7.25e1
variant carriers: 1001

GenotypeQuality
all individuals: 1300
bin: 8.25e1
variant carriers: 1097

GenotypeQuality
all individuals: 1323
bin: 5.75e1
variant carriers: 1039

GenotypeQuality
all individuals: 1600
bin: 2.25e1
variant carriers: 930

GenotypeQuality
all individuals: 1314
bin: 9.25e1
variant carriers: 1115

GenotypeQuality
all individuals: 1281
bin: 7.5e0
variant carriers: 557

GenotypeQuality
all individuals: 1272
bin: 3.25e1
variant carriers: 811

GenotypeQuality
all individuals: 1311
bin: 1.75e1
variant carriers: 697

GenotypeQuality
all individuals: 1399
bin: 6.25e1
variant carriers: 1111

GenotypeQuality
all individuals: 1457
bin: 6.75e1
variant carriers: 1172

Latino
type: Population
allele count: 4551
allele frequency: 4.433080070134424e-1
allele num: 10266
num of homozygotes: 1

East Asian
type: Population
allele count: 3347
allele frequency: 4.420232435287903e-1
allele num: 7572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 24774
allele frequency: 4.320393428900283e-1
allele num: 57342
num of homozygotes: 2

African
type: Population
allele count: 3512
allele frequency: 4.280838615309605e-1
allele num: 8204
num of homozygotes: 6

Other
type: Population
allele count: 340
allele frequency: 4.347826086956522e-1
allele num: 782
num of homozygotes: 0

South Asian
type: Population
allele count: 6015
allele frequency: 4.201005727056851e-1
allele num: 14318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2647
allele frequency: 4.468264686022957e-1
allele num: 5924
num of homozygotes: 1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

FS
type: SiteQuality
SIO_000300: 9.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.507e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.13e0

DP
type: SiteQuality
SIO_000300: 2.613292e6

QD
type: SiteQuality
SIO_000300: 2.84e0

GenotypeQuality
all individuals: 1281
bin: 7.5e0
variant carriers: 270

GenotypeQuality
all individuals: 1276
bin: 1.25e1
variant carriers: 235

GenotypeQuality
all individuals: 1314
bin: 9.25e1
variant carriers: 96

GenotypeQuality
all individuals: 1219
bin: 7.25e1
variant carriers: 117

GenotypeQuality
all individuals: 1300
bin: 8.25e1
variant carriers: 106

GenotypeQuality
all individuals: 1322
bin: 7.75e1
variant carriers: 112

GenotypeQuality
all individuals: 1298
bin: 5.25e1
variant carriers: 150

GenotypeQuality
all individuals: 1425
bin: 4.75e1
variant carriers: 171

GenotypeQuality
all individuals: 1313
bin: 2.75e1
variant carriers: 207

GenotypeQuality
all individuals: 1501
bin: 4.25e1
variant carriers: 190

Other
type: Population
allele count: 23
allele frequency: 2.941176470588235e-2
allele num: 782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 115
allele frequency: 1.941255908170155e-2
allele num: 5924
num of homozygotes: 0

Latino
type: Population
allele count: 328
allele frequency: 3.195012663159946e-2
allele num: 10266
num of homozygotes: 0

East Asian
type: Population
allele count: 231
allele frequency: 3.050713153724247e-2
allele num: 7572
num of homozygotes: 0

South Asian
type: Population
allele count: 644
allele frequency: 4.4978348931415e-2
allele num: 14318
num of homozygotes: 0

African
type: Population
allele count: 475
allele frequency: 5.789858605558264e-2
allele num: 8204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1804
allele frequency: 3.14603606431586e-2
allele num: 57342
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.913e1

FS
type: SiteQuality
SIO_000300: 9.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.507e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.47e-1

DP
type: SiteQuality
SIO_000300: 2.613292e6

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.84e0

GenotypeQuality
all individuals: 1395
bin: 8.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1219
bin: 7.25e1
variant carriers: 10

GenotypeQuality
all individuals: 1322
bin: 7.75e1
variant carriers: 11

GenotypeQuality
all individuals: 1600
bin: 2.25e1
variant carriers: 17

GenotypeQuality
all individuals: 1298
bin: 5.25e1
variant carriers: 14

GenotypeQuality
all individuals: 31954
bin: 9.75e1
variant carriers: 149

GenotypeQuality
all individuals: 1314
bin: 9.25e1
variant carriers: 21

GenotypeQuality
all individuals: 1501
bin: 4.25e1
variant carriers: 19

GenotypeQuality
all individuals: 1425
bin: 4.75e1
variant carriers: 15

GenotypeQuality
all individuals: 1313
bin: 2.75e1
variant carriers: 27

African
type: Population
allele count: 41
allele frequency: 4.99756216479766e-3
allele num: 8204
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 184
allele frequency: 3.20881727180775e-3
allele num: 57342
num of homozygotes: 0

East Asian
type: Population
allele count: 22
allele frequency: 2.905441098784997e-3
allele num: 7572
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.836317135549872e-3
allele num: 782
num of homozygotes: 0

Latino
type: Population
allele count: 47
allele frequency: 4.578219364893824e-3
allele num: 10266
num of homozygotes: 0

South Asian
type: Population
allele count: 80
allele frequency: 5.587372538063975e-3
allele num: 14318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 11
allele frequency: 1.856853477380149e-3
allele num: 5924
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.13e0

DP
type: SiteQuality
SIO_000300: 2.613292e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.507e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

QD
type: SiteQuality
SIO_000300: 2.84e0

FS
type: SiteQuality
SIO_000300: 9.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

GenotypeQuality
all individuals: 1322
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1311
bin: 1.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1359
bin: 3.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1281
bin: 7.5e0
variant carriers: 8

GenotypeQuality
all individuals: 1314
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1395
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1457
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1272
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1501
bin: 4.25e1
variant carriers: 1

South Asian
type: Population
allele count: 16
allele frequency: 1.117474507612795e-3
allele num: 14318
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.922267679719462e-4
allele num: 10266
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 5.282620179609086e-4
allele num: 7572
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.462701121404193e-3
allele num: 8204
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 4.011021589759688e-4
allele num: 57342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.37609723160027e-4
allele num: 5924
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.913e1

VQSLOD
type: SiteQuality
SIO_000300: 4.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.507e-1

FS
type: SiteQuality
SIO_000300: 9.57e-1

QD
type: SiteQuality
SIO_000300: 2.84e0

DP
type: SiteQuality
SIO_000300: 2.613292e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.47e-1

GenotypeQuality
all individuals: 1276
bin: 1.25e1
variant carriers: 253

GenotypeQuality
all individuals: 1457
bin: 6.75e1
variant carriers: 119

GenotypeQuality
all individuals: 4266
bin: 2.5e0
variant carriers: 280

GenotypeQuality
all individuals: 1323
bin: 5.75e1
variant carriers: 129

GenotypeQuality
all individuals: 1600
bin: 2.25e1
variant carriers: 234

GenotypeQuality
all individuals: 1501
bin: 4.25e1
variant carriers: 184

GenotypeQuality
all individuals: 1399
bin: 6.25e1
variant carriers: 136

GenotypeQuality
all individuals: 31954
bin: 9.75e1
variant carriers: 599

GenotypeQuality
all individuals: 1281
bin: 7.5e0
variant carriers: 275

GenotypeQuality
all individuals: 1322
bin: 7.75e1
variant carriers: 96

European (Finnish)
type: Population
allele count: 155
allele frequency: 2.616475354490209e-2
allele num: 5924
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1702
allele frequency: 2.968155976422169e-2
allele num: 57342
num of homozygotes: 0

East Asian
type: Population
allele count: 145
allele frequency: 1.914949815108294e-2
allele num: 7572
num of homozygotes: 0

African
type: Population
allele count: 189
allele frequency: 2.303754266211604e-2
allele num: 8204
num of homozygotes: 0

Latino
type: Population
allele count: 186
allele frequency: 1.811805961426067e-2
allele num: 10266
num of homozygotes: 0

Other
type: Population
allele count: 19
allele frequency: 2.429667519181586e-2
allele num: 782
num of homozygotes: 0

South Asian
type: Population
allele count: 362
allele frequency: 2.528286073473949e-2
allele num: 14318
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.47e-1

FS
type: SiteQuality
SIO_000300: 9.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

DP
type: SiteQuality
SIO_000300: 2.613292e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.507e-1

QD
type: SiteQuality
SIO_000300: 2.84e0

VQSLOD
type: SiteQuality
SIO_000300: 4.13e0

GenotypeQuality
all individuals: 1313
bin: 2.75e1
variant carriers: 10

GenotypeQuality
all individuals: 1501
bin: 4.25e1
variant carriers: 10

GenotypeQuality
all individuals: 1323
bin: 5.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1311
bin: 1.75e1
variant carriers: 14

GenotypeQuality
all individuals: 1272
bin: 3.25e1
variant carriers: 14

GenotypeQuality
all individuals: 4266
bin: 2.5e0
variant carriers: 17

GenotypeQuality
all individuals: 31954
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 1322
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1399
bin: 6.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1300
bin: 8.25e1
variant carriers: 3

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.688048615800135e-4
allele num: 5924
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 6.094588005850804e-4
allele num: 8204
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.922267679719462e-4
allele num: 10266
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.188589540412044e-3
allele num: 7572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 90
allele frequency: 1.569530187297269e-3
allele num: 57342
num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 1.047632350886995e-3
allele num: 14318
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.84e0

VQSLOD
type: SiteQuality
SIO_000300: 4.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

FS
type: SiteQuality
SIO_000300: 9.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

DP
type: SiteQuality
SIO_000300: 2.613292e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.507e-1