9-98268653-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268653
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268653
    reference: chr 9
allele count: 6
allele frequency: 6.350819255683983e-5
allele num: 94476
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.193+36C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.196+36C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+10098C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.394+36C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-60+36C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.391+36C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-60+36C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.137G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-60+36C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-60+36C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-60+36C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-60+36C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-60+36C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-95+36C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.193+36C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.196+36C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-60+36C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-60+36C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.196+36C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10252C>G
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP

9-98268653-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268653
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268653
    reference: chr 9
allele count: 1
allele frequency: 1.05846987594733e-5
allele num: 94476
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.196+36C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-60+36C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.193+36C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-60+36C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+10098C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.196+36C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-60+36C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10252C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-60+36C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.196+36C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.193+36C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.137G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-60+36C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.394+36C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-60+36C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.391+36C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-60+36C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-60+36C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-95+36C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-60+36C>T
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7065
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

9-98268656-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268656
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268656
    reference: chr 9
allele count: 1
allele frequency: 1.055832418278571e-5
allele num: 94712
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.140C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-60+33G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10249G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.196+33G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.193+33G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-95+33G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-60+33G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.196+33G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+10095G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-60+33G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.391+33G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-60+33G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-60+33G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.193+33G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-60+33G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.196+33G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-60+33G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.394+33G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-60+33G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-60+33G>C
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16674
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS

9-98268656-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268656
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268655
    reference: chr 9
allele count: 4
allele frequency: 4.223329673114283e-5
allele num: 94712
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-60+32delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.193+32delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.196+32delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.196+32delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-60+32delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-60+32delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-60+32delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.394+32delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-60+32delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+10094delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-60+32delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-60+32delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-60+32delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.391+32delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-60+32delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.145delG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.196+32delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.193+32delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-95+32delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10248delC
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: CG
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

9-98268662-C-CGCGGGCGCCGCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268662
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268674
    reference: chr 9
allele count: 1
allele frequency: 1.041558171023852e-5
allele num: 96010
alternate allele: CGCGGGCGCCGCG
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

9-98268662-CGCGGGCGCCGCG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268662
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268650
    reference: chr 9
allele count: 7
allele frequency: 7.290907197166962e-5
allele num: 96010
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 5461
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7867
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: CGCGGGCGCCGCG
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS

9-98268665-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268665
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268665
    reference: chr 9
allele count: 60
allele frequency: 6.171188776664678e-4
allele num: 97226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-60+24C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-60+24C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.394+24C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.196+24C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-60+24C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-60+24C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.196+24C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.149G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+10086C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-60+24C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.193+24C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-60+24C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.196+24C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-60+24C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.193+24C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.391+24C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10240C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-95+24C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-60+24C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-60+24C>T
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

9-98268671-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268671
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268671
    reference: chr 9
allele count: 1
allele frequency: 1.021471327299843e-5
allele num: 97898
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-60+18G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-60+18G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+10080G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-60+18G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.394+18G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.196+18G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.193+18G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-95+18G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-60+18G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.196+18G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-60+18G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-60+18G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.196+18G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.155C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-60+18G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10234G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-60+18G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.391+18G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.193+18G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-60+18G>C
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 4931
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

9-98268671-CGCGGCGGGCGCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268671
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268659
    reference: chr 9
allele count: 1
allele frequency: 1.021471327299843e-5
allele num: 97898
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.394+6_394+17delAGCGCCCGCCGC
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: CGCGGCGGGCGCT
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS

9-98268674-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268674
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268674
    reference: chr 9
allele count: 1
allele frequency: 1.003149890656662e-5
allele num: 99686
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-60+15C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10231C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.193+15C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.391+15C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.196+15C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-60+15C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+10077C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.158G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-60+15C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-60+15C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.196+15C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.394+15C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.193+15C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-60+15C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-60+15C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-60+15C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-60+15C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-60+15C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.196+15C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-95+15C>G
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11042
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

9-98268676-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268676
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268676
    reference: chr 9
allele count: 3
allele frequency: 2.967770017608769e-5
allele num: 101086
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-60+13G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.193+13G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.196+13G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.391+13G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-60+13G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.193+13G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+10075G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.160C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-60+13G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.394+13G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-60+13G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-60+13G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.196+13G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-95+13G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-60+13G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10229G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.196+13G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-60+13G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-60+13G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-60+13G>C
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

9-98268676-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268676
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268675
    reference: chr 9
allele count: 1
allele frequency: 9.892566725362563e-6
allele num: 101086
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-60+12delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-60+12delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-60+12delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-60+12delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.196+12delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10228delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-60+12delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-95+12delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.391+12delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+10074delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.394+12delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.163delG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-60+12delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.196+12delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-60+12delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.193+12delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.196+12delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-60+12delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-60+12delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.193+12delC
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: CG
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

9-98268677-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268677
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268677
    reference: chr 9
allele count: 1
allele frequency: 9.782055796846265e-6
allele num: 102228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-60+12C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.394+12C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+10074C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-60+12C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-60+12C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-60+12C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.161G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.196+12C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.193+12C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-60+12C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-60+12C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.196+12C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-60+12C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-60+12C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10228C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.391+12C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.193+12C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-60+12C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-95+12C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.196+12C>T
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

9-98268695-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268695
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268695
    reference: chr 9
allele count: 1
allele frequency: 8.845174073025756e-6
allele num: 113056
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.190G>A
  hgvsp: ENSP00000449745.1:p.Val64Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.179C>T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-66G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.385G>A
  hgvsp: ENSP00000364423.2:p.Val129Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-66G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10210G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.187G>A
  hgvsp: ENSP00000364439.2:p.Val63Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-66G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.388G>A
  hgvsp: ENSP00000332353.6:p.Val130Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-66G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-101G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+10056G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-66G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.190G>A
  hgvsp: ENSP00000410287.2:p.Val64Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.190G>A
  hgvsp: ENSP00000389744.1:p.Val64Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-66G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-66G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-66G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.187G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-66G>A
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val130Met
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

9-98268701-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268701
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268701
    reference: chr 9
allele count: 4
allele frequency: 3.479592191795122e-5
allele num: 114956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-72C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.184C>T
  hgvsp: ENST00000468211.2:c.184C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-72C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.181C>T
  hgvsp: ENST00000375290.2:c.181C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.379C>T
  hgvsp: ENST00000375274.2:c.379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-72C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-72C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.185G>A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-72C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-72C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.382C>T
  hgvsp: ENST00000331920.6:c.382C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.184C>T
  hgvsp: ENST00000430669.2:c.184C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.181C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10204C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.184C>T
  hgvsp: ENST00000437951.1:c.184C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-107C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-72C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-72C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+10050C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-72C>T
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu128Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

9-98268704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268704
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268704
    reference: chr 9
allele count: 1
allele frequency: 8.628425484917513e-6
allele num: 115896
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-75G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.376G>A
  hgvsp: ENSP00000364423.2:p.Glu126Lys
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.181G>A
  hgvsp: ENSP00000449745.1:p.Glu61Lys
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.181G>A
  hgvsp: ENSP00000389744.1:p.Glu61Lys
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.181G>A
  hgvsp: ENSP00000410287.2:p.Glu61Lys
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-75G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+10047G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.188C>T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-75G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-75G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.379G>A
  hgvsp: ENSP00000332353.6:p.Glu127Lys
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-75G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-110G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.178G>A
  hgvsp: ENSP00000364439.2:p.Glu60Lys
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-75G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-75G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-75G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.178G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-75G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10201G>A
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu127Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

9-98268710-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268710
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268710
    reference: chr 9
allele count: 1
allele frequency: 8.512087163772557e-6
allele num: 117480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.175G>A
  hgvsp: ENSP00000410287.2:p.Val59Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.172G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-81G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-81G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.370G>A
  hgvsp: ENSP00000364423.2:p.Val124Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.175G>A
  hgvsp: ENSP00000449745.1:p.Val59Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.373G>A
  hgvsp: ENSP00000332353.6:p.Val125Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-81G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.172G>A
  hgvsp: ENSP00000364439.2:p.Val58Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.175G>A
  hgvsp: ENSP00000389744.1:p.Val59Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.194C>T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-116G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-81G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-81G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10195G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-81G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-81G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-81G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-81G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+10041G>A
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val125Met
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

9-98268711-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268711
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268711
    reference: chr 9
allele count: 1
allele frequency: 8.493867427717188e-6
allele num: 117732
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-82C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-82C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.174C>G
  hgvsp: ENSP00000389744.1:p.Asn58Lys
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.174C>G
  hgvsp: ENSP00000449745.1:p.Asn58Lys
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.195G>C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-82C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-82C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-82C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.171C>G
  hgvsp: ENSP00000364439.2:p.Asn57Lys
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.174C>G
  hgvsp: ENSP00000410287.2:p.Asn58Lys
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.372C>G
  hgvsp: ENSP00000332353.6:p.Asn124Lys
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-117C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-82C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+10040C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-82C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.171C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-82C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10194C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.369C>G
  hgvsp: ENSP00000364423.2:p.Asn123Lys
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-82C>G
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn124Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

9-98268722-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268722
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268722
    reference: chr 9
allele count: 1
allele frequency: 8.383072899201931e-6
allele num: 119288
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-93C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-93C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.160C>G
  hgvsp: ENSP00000364439.2:p.Leu54Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-93C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.361C>G
  hgvsp: ENSP00000332353.6:p.Leu121Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-93C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.163C>G
  hgvsp: ENSP00000410287.2:p.Leu55Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-93C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-93C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-93C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.358C>G
  hgvsp: ENSP00000364423.2:p.Leu120Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10183C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-93C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.163C>G
  hgvsp: ENSP00000389744.1:p.Leu55Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-93C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-128C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.206G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+10029C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.160C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.163C>G
  hgvsp: ENSP00000449745.1:p.Leu55Val
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu121Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

9-98268726-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268726
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268726
    reference: chr 9
allele count: 1
allele frequency: 8.36050497450046e-6
allele num: 119610
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.156G>A
  hgvsp: ENST00000375290.2:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.159G>A
  hgvsp: ENST00000437951.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-97G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-97G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-97G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.159G>A
  hgvsp: ENST00000430669.2:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-97G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.357G>A
  hgvsp: ENST00000331920.6:c.357G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.354G>A
  hgvsp: ENST00000375274.2:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-97G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-132G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-97G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.159G>A
  hgvsp: ENST00000468211.2:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-97G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+10025G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.210C>T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-97G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-97G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10179G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.156G>A
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala119Ala
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

9-98268728-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268728
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268728
    reference: chr 9
allele count: 2
allele frequency: 1.670062460336017e-5
allele num: 119756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-134G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.212C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.355G>A
  hgvsp: ENSP00000332353.6:p.Ala119Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-99G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.157G>A
  hgvsp: ENSP00000449745.1:p.Ala53Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.157G>A
  hgvsp: ENSP00000389744.1:p.Ala53Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-99G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.154G>A
  hgvsp: ENSP00000364439.2:p.Ala52Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-99G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-99G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.352G>A
  hgvsp: ENSP00000364423.2:p.Ala118Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-99G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-99G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-99G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.157G>A
  hgvsp: ENSP00000410287.2:p.Ala53Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10177G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-99G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.154G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-99G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+10023G>A
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala119Thr
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

9-98268737-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268737
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268737
    reference: chr 9
allele count: 11
allele frequency: 9.153089583784054e-5
allele num: 120178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-143T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.148T>C
  hgvsp: ENST00000468211.2:c.148T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.148T>C
  hgvsp: ENST00000437951.1:c.148T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-108T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.346T>C
  hgvsp: ENST00000331920.6:c.346T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.343T>C
  hgvsp: ENST00000375274.2:c.343T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+10014T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.145T>C
  hgvsp: ENST00000375290.2:c.145T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-108T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-108T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-108T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-108T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.145T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.148T>C
  hgvsp: ENST00000430669.2:c.148T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-108T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-108T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-108T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.221A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10168T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-108T>C
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu116Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

9-98268739-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268739
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268739
    reference: chr 9
allele count: 1
allele frequency: 8.317114959162966e-6
allele num: 120234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-110G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-110G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-110G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-145G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-110G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.143G>C
  hgvsp: ENSP00000364439.2:p.Gly48Ala
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.223C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.344G>C
  hgvsp: ENSP00000332353.6:p.Gly115Ala
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.146G>C
  hgvsp: ENSP00000449745.1:p.Gly49Ala
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.143G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-110G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-110G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.341G>C
  hgvsp: ENSP00000364423.2:p.Gly114Ala
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.146G>C
  hgvsp: ENSP00000410287.2:p.Gly49Ala
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10166G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-110G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+10012G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.146G>C
  hgvsp: ENSP00000389744.1:p.Gly49Ala
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-110G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-110G>C
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly115Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

9-98268741-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268741
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268741
    reference: chr 9
allele count: 6
allele frequency: 4.988028731045491e-5
allele num: 120288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.144G>A
  hgvsp: ENST00000468211.2:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-112G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.141G>A
  hgvsp: ENST00000375290.2:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-112G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-147G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-112G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+10010G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10164G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.339G>A
  hgvsp: ENST00000375274.2:c.339G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.141G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.144G>A
  hgvsp: ENST00000437951.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-112G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-112G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.342G>A
  hgvsp: ENST00000331920.6:c.342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-112G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.144G>A
  hgvsp: ENST00000430669.2:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.225C>T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-112G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-112G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-112G>A
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val114Val
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

9-98268742-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268742
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268742
    reference: chr 9
allele count: 1
allele frequency: 8.3099270388406e-6
allele num: 120338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.140T>C
  hgvsp: ENSP00000364439.2:p.Val47Ala
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-113T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.338T>C
  hgvsp: ENSP00000364423.2:p.Val113Ala
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-113T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-113T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-113T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.143T>C
  hgvsp: ENSP00000410287.2:p.Val48Ala
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10163T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-148T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+10009T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.143T>C
  hgvsp: ENSP00000449745.1:p.Val48Ala
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-113T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.143T>C
  hgvsp: ENSP00000389744.1:p.Val48Ala
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-113T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.140T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-113T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.341T>C
  hgvsp: ENSP00000332353.6:p.Val114Ala
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-113T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.226A>G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-113T>C
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val114Ala
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

9-98268744-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268744
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268744
    reference: chr 9
allele count: 1
allele frequency: 8.306337735692333e-6
allele num: 120390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.138G>A
  hgvsp: ENST00000375290.2:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.138G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-115G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-150G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.141G>A
  hgvsp: ENST00000437951.1:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-115G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.336G>A
  hgvsp: ENST00000375274.2:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+10007G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.141G>A
  hgvsp: ENST00000430669.2:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-115G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-115G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-115G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.141G>A
  hgvsp: ENST00000468211.2:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.339G>A
  hgvsp: ENST00000331920.6:c.339G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-115G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-115G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10161G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-115G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-115G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.228C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala113Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

9-98268752-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268752
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268752
    reference: chr 9
allele count: 1
allele frequency: 8.297653423611802e-6
allele num: 120516
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.133G>A
  hgvsp: ENSP00000449745.1:p.Ala45Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-158G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-123G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-123G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.130G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-123G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.328G>A
  hgvsp: ENSP00000364423.2:p.Ala110Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.130G>A
  hgvsp: ENSP00000364439.2:p.Ala44Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.331G>A
  hgvsp: ENSP00000332353.6:p.Ala111Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-123G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9999G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-123G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-123G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-123G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.133G>A
  hgvsp: ENSP00000410287.2:p.Ala45Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.133G>A
  hgvsp: ENSP00000389744.1:p.Ala45Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10153G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.236C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-123G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-123G>A
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala111Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

9-98268759-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268759
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268759
    reference: chr 9
allele count: 11
allele frequency: 9.121212623758272e-5
allele num: 120598
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-165A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.126A>G
  hgvsp: ENSP00000410287.2:p.Ile42Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.123A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.126A>G
  hgvsp: ENSP00000389744.1:p.Ile42Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-130A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.126A>G
  hgvsp: ENSP00000449745.1:p.Ile42Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.321A>G
  hgvsp: ENSP00000364423.2:p.Ile107Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.123A>G
  hgvsp: ENSP00000364439.2:p.Ile41Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-130A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-130A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10146A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-130A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.243T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.324A>G
  hgvsp: ENSP00000332353.6:p.Ile108Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-130A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-130A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-130A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-130A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-130A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9992A>G
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile108Met
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

9-98268762-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268762
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268762
    reference: chr 9
allele count: 1
allele frequency: 8.290361625574107e-6
allele num: 120622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.123C>T
  hgvsp: ENST00000430669.2:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.123C>T
  hgvsp: ENST00000437951.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.321C>T
  hgvsp: ENST00000331920.6:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-133C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-133C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.318C>T
  hgvsp: ENST00000375274.2:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.120C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-133C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-133C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-133C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-133C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.120C>T
  hgvsp: ENST00000375290.2:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-133C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10143C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-133C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9989C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-168C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.123C>T
  hgvsp: ENST00000468211.2:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-133C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.246G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu107Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

9-98268765-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268765
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268765
    reference: chr 9
allele count: 1737
allele frequency: 1.439606159558421e-2
allele num: 120658
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-136C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.117C>T
  hgvsp: ENST00000375290.2:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.315C>T
  hgvsp: ENST00000375274.2:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.120C>T
  hgvsp: ENST00000430669.2:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-136C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.120C>T
  hgvsp: ENST00000437951.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-136C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10140C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9986C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-136C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-136C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-136C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-136C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.120C>T
  hgvsp: ENST00000468211.2:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.318C>T
  hgvsp: ENST00000331920.6:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-136C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-171C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.117C>T
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu106Leu
num of homozygotes: 10
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

9-98268772-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268772
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268772
    reference: chr 9
allele count: 1
allele frequency: 8.286239870071759e-6
allele num: 120682
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-143T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10133T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.113T>C
  hgvsp: ENSP00000449745.1:p.Val38Ala
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-143T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.256A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.308T>C
  hgvsp: ENSP00000364423.2:p.Val103Ala
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-143T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.113T>C
  hgvsp: ENSP00000389744.1:p.Val38Ala
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.110T>C
  hgvsp: ENSP00000364439.2:p.Val37Ala
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.311T>C
  hgvsp: ENSP00000332353.6:p.Val104Ala
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-143T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.113T>C
  hgvsp: ENSP00000410287.2:p.Val38Ala
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-178T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9979T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-143T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-143T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-143T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-143T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.110T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-143T>C
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val104Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

9-98268786-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268786
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268786
    reference: chr 9
allele count: 1
allele frequency: 8.2847295864263e-6
allele num: 120704
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.99C>G
  hgvsp: ENST00000437951.1:c.99C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-157C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10119C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.99C>G
  hgvsp: ENST00000468211.2:c.99C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.96C>G
  hgvsp: ENST00000375290.2:c.96C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.99C>G
  hgvsp: ENST00000430669.2:c.99C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.294C>G
  hgvsp: ENST00000375274.2:c.294C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.297C>G
  hgvsp: ENST00000331920.6:c.297C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-157C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-192C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9965C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.270G>C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-157C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-157C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.96C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-157C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-157C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-157C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-157C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-157C>G
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly99Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

9-98268787-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268787
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268787
    reference: chr 9
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-158G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-158G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-158G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.95G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-193G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-158G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-158G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.95G>A
  hgvsp: ENSP00000364439.2:p.Gly32Asp
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.98G>A
  hgvsp: ENSP00000389744.1:p.Gly33Asp
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.296G>A
  hgvsp: ENSP00000332353.6:p.Gly99Asp
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.293G>A
  hgvsp: ENSP00000364423.2:p.Gly98Asp
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-158G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9964G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.98G>A
  hgvsp: ENSP00000410287.2:p.Gly33Asp
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-158G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10118G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.271C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-158G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.98G>A
  hgvsp: ENSP00000449745.1:p.Gly33Asp
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-158G>A
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly99Asp
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

9-98268790-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268790
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268790
    reference: chr 9
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-161G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.92G>A
  hgvsp: ENSP00000364439.2:p.Cys31Tyr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.95G>A
  hgvsp: ENSP00000449745.1:p.Cys32Tyr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-161G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.92G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-161G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-196G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.293G>A
  hgvsp: ENSP00000332353.6:p.Cys98Tyr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-161G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9961G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.95G>A
  hgvsp: ENSP00000410287.2:p.Cys32Tyr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-161G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.274C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10115G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-161G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.95G>A
  hgvsp: ENSP00000389744.1:p.Cys32Tyr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-161G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.290G>A
  hgvsp: ENSP00000364423.2:p.Cys97Tyr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-161G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-161G>A
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys98Tyr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

9-98268794-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268794
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268794
    reference: chr 9
allele count: 1
allele frequency: 8.284866862189524e-6
allele num: 120702
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-165A>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-165A>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-165A>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-165A>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-200A>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.91A>C
  hgvsp: ENSP00000389744.1:p.Asn31His
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-165A>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.88A>C
  hgvsp: ENSP00000364439.2:p.Asn30His
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-165A>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.286A>C
  hgvsp: ENSP00000364423.2:p.Asn96His
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.88A>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.91A>C
  hgvsp: ENSP00000410287.2:p.Asn31His
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.289A>C
  hgvsp: ENSP00000332353.6:p.Asn97His
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-165A>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.91A>C
  hgvsp: ENSP00000449745.1:p.Asn31His
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.278T>G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-165A>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9957A>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10111A>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-165A>C
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn97His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

9-98268797-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268797
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268797
    reference: chr 9
allele count: 1
allele frequency: 8.285004142502071e-6
allele num: 120700
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-168A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.85A>G
  hgvsp: ENSP00000364439.2:p.Lys29Glu
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-203A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-168A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.88A>G
  hgvsp: ENSP00000389744.1:p.Lys30Glu
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.286A>G
  hgvsp: ENSP00000332353.6:p.Lys96Glu
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-168A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.283A>G
  hgvsp: ENSP00000364423.2:p.Lys95Glu
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.281T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10108A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.88A>G
  hgvsp: ENSP00000449745.1:p.Lys30Glu
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-168A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-168A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.88A>G
  hgvsp: ENSP00000410287.2:p.Lys30Glu
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-168A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-168A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.85A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-168A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9954A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-168A>G
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys96Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

9-98268798-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268798
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268798
    reference: chr 9
allele count: 2
allele frequency: 1.657055743355207e-5
allele num: 120696
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-169A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.282A>G
  hgvsp: ENST00000375274.2:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-169A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.87A>G
  hgvsp: ENST00000437951.1:c.87A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-169A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10107A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-169A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.282T>C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-169A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-169A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.84A>G
  hgvsp: ENST00000375290.2:c.84A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-204A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.285A>G
  hgvsp: ENST00000331920.6:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.87A>G
  hgvsp: ENST00000430669.2:c.87A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-169A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-169A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9953A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-169A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.84A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.87A>G
  hgvsp: ENST00000468211.2:c.87A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln95Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

9-98268827-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268827
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268827
    reference: chr 9
allele count: 1
allele frequency: 8.303303053954863e-6
allele num: 120434
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-198C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-198C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.58C>T
  hgvsp: ENSP00000449745.1:p.Leu20Phe
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.55C>T
  hgvsp: ENSP00000364439.2:p.Leu19Phe
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-198C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.253C>T
  hgvsp: ENSP00000364423.2:p.Leu85Phe
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.58C>T
  hgvsp: ENSP00000410287.2:p.Leu20Phe
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.55C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-198C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-198C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.256C>T
  hgvsp: ENSP00000332353.6:p.Leu86Phe
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-233C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-198C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.58C>T
  hgvsp: ENSP00000389744.1:p.Leu20Phe
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-198C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10078C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9924C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-198C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.311G>A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-198C>T
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu86Phe
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: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

9-98268829-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268829
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268829
    reference: chr 9
allele count: 4
allele frequency: 3.323197580712161e-5
allele num: 120366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-200G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.53G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.56G>A
  hgvsp: ENSP00000389744.1:p.Arg19Lys
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-200G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9922G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.313C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.254G>A
  hgvsp: ENSP00000332353.6:p.Arg85Lys
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.53G>A
  hgvsp: ENSP00000364439.2:p.Arg18Lys
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10076G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-200G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.251G>A
  hgvsp: ENSP00000364423.2:p.Arg84Lys
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.56G>A
  hgvsp: ENSP00000449745.1:p.Arg19Lys
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-200G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-235G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-200G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-200G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.56G>A
  hgvsp: ENSP00000410287.2:p.Arg19Lys
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-200G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-200G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-200G>A
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg85Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

9-98268846-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268846
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268846
    reference: chr 9
allele count: 3
allele frequency: 2.502753028331164e-5
allele num: 119868
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10059G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-217G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.39G>A
  hgvsp: ENST00000437951.1:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-217G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-217G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.39G>A
  hgvsp: ENST00000430669.2:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-217G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-217G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-217G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-252G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.39G>A
  hgvsp: ENST00000468211.2:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.36G>A
  hgvsp: ENST00000375290.2:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.237G>A
  hgvsp: ENST00000331920.6:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-217G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.36G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.234G>A
  hgvsp: ENST00000375274.2:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-217G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-217G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.330C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9905G>A
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu79Leu
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

9-98268855-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268855
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268855
    reference: chr 9
allele count: 5
allele frequency: 4.195616419964421e-5
allele num: 119172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-226G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-226G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-226G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.27G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-226G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-226G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-226G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.225G>A
  hgvsp: ENST00000375274.2:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10050G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.30G>A
  hgvsp: ENST00000437951.1:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.27G>A
  hgvsp: ENST00000375290.2:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9896G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-226G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.30G>A
  hgvsp: ENST00000430669.2:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-226G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-261G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.339C>T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-226G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.30G>A
  hgvsp: ENST00000468211.2:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.228G>A
  hgvsp: ENST00000331920.6:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro76Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

9-98268866-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268866
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268866
    reference: chr 9
allele count: 1
allele frequency: 8.43355204344966e-6
allele num: 118574
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.217C>G
  hgvsp: ENSP00000332353.6:p.Arg73Gly
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.214C>G
  hgvsp: ENSP00000364423.2:p.Arg72Gly
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-237C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-237C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10039C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.19C>G
  hgvsp: ENSP00000410287.2:p.Arg7Gly
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9885C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-237C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-237C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.16C>G
  hgvsp: ENSP00000364439.2:p.Arg6Gly
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.19C>G
  hgvsp: ENSP00000449745.1:p.Arg7Gly
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-237C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-272C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.19C>G
  hgvsp: ENSP00000389744.1:p.Arg7Gly
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-237C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-237C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.16C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-237C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-237C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.350G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg73Gly
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD

9-98268871-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268871
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268871
    reference: chr 9
allele count: 10
allele frequency: 8.475294516484448e-5
allele num: 117990
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.209C>T
  hgvsp: ENSP00000364423.2:p.Thr70Ile
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-242C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.14C>T
  hgvsp: ENSP00000449745.1:p.Thr5Ile
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.212C>T
  hgvsp: ENSP00000332353.6:p.Thr71Ile
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.11C>T
  hgvsp: ENSP00000364439.2:p.Thr4Ile
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.14C>T
  hgvsp: ENSP00000410287.2:p.Thr5Ile
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-242C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9880C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-242C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-242C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-242C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10034C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-242C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-242C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-277C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-242C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.355G>A
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.14C>T
  hgvsp: ENSP00000389744.1:p.Thr5Ile
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr71Ile
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

9-98268874-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268874
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268874
    reference: chr 9
allele count: 1
allele frequency: 8.520935939603607e-6
allele num: 117358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.11C>T
  hgvsp: ENSP00000389744.1:p.Ala4Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.8C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-245C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-245C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-245C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.206C>T
  hgvsp: ENSP00000364423.2:p.Ala69Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-245C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.11C>T
  hgvsp: ENSP00000410287.2:p.Ala4Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-245C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-245C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-245C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-280C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-245C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.209C>T
  hgvsp: ENSP00000332353.6:p.Ala70Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.8C>T
  hgvsp: ENSP00000364439.2:p.Ala3Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-245C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10031C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.11C>T
  hgvsp: ENSP00000449745.1:p.Ala4Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.358G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9877C>T
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala70Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

9-98268875-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268875
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268875
    reference: chr 9
allele count: 1
allele frequency: 8.522824123001398e-6
allele num: 117332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.7G>A
  hgvsp: ENSP00000364439.2:p.Ala3Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-246G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-246G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9876G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-246G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-246G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-246G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-246G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.10G>A
  hgvsp: ENSP00000449745.1:p.Ala4Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.359C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.10G>A
  hgvsp: ENSP00000410287.2:p.Ala4Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.10G>A
  hgvsp: ENSP00000389744.1:p.Ala4Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.208G>A
  hgvsp: ENSP00000332353.6:p.Ala70Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10030G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-246G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-246G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.205G>A
  hgvsp: ENSP00000364423.2:p.Ala69Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-281G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000548945
  gene symbol: PTCH1
  hgvsc: ENST00000548945.2:n.7G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-246G>A
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala70Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

9-98268880-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268880
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268880
    reference: chr 9
allele count: 1
allele frequency: 8.593427746459508e-6
allele num: 116368
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.203G>A
  hgvsp: ENSP00000332353.6:p.Gly68Glu
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.5G>A
  hgvsp: ENSP00000410287.2:p.Gly2Glu
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9871G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-251G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-251G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.364C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.200G>A
  hgvsp: ENSP00000364423.2:p.Gly67Glu
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.2G>A
  hgvsp: ENSP00000364439.2:p.Gly1?
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-251G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-251G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-251G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.5G>A
  hgvsp: ENSP00000389744.1:p.Gly2Glu
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.5G>A
  hgvsp: ENSP00000449745.1:p.Gly2Glu
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-251G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-251G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-286G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-251G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10025G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450047
  ensembl transcript: ENST00000550914
  gene symbol: PTCH1
  hgvsc: ENST00000550914.2:c.-251G>A
  variant of: http://identifiers.org/hgnc/9585
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly1?
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

9-98268887-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268887
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268887
    reference: chr 9
allele count: 2
allele frequency: 1.744926625835384e-5
allele num: 114618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.199-6C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-293C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-252-6C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.4-6C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.202-6C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.4-6C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-252-6C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-252-6C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-252-6C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-252-6C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-252-6C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.371G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9864C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10018C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.4-6C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-252-6C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-258C>T
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.202-6C>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/9-98268889-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268889
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268889
    reference: chr 9
allele count: 1
allele frequency: 8.742940075888719e-6
allele num: 114378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-252-8G>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-252-8G>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000450131
  ensembl transcript: ENST00000551630
  gene symbol: PTCH1
  hgvsc: ENST00000551630.1:c.-260G>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.4-8G>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-252-8G>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-252-8G>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.373C>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.199-8G>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-252-8G>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-252-8G>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-252-8G>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-295G>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10016G>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.202-8G>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.4-8G>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9862G>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.4-8G>T
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.202-8G>T
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

9-98268902-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268902
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268902
    reference: chr 9
allele count: 1
allele frequency: 9.099015486524358e-6
allele num: 109902
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-252-21T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9849T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.199-21T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.202-21T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-252-21T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-252-21T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.4-21T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.4-21T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-252-21T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-252-21T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.386A>G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-308T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-252-21T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10003T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.4-21T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-252-21T>C
  variant of: http://identifiers.org/hgnc/9585
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

9-98268904-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268904
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268904
    reference: chr 9
allele count: 1
allele frequency: 9.167751517262877e-6
allele num: 109078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-252-23C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-252-23C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.4-23C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.4-23C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.4-23C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-310C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-252-23C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.388G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-252-23C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.202-23C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-252-23C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+10001C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.199-23C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9847C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-252-23C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-252-23C>T
  variant of: http://identifiers.org/hgnc/9585
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

9-98268906-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268906
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268906
    reference: chr 9
allele count: 1
allele frequency: 9.248298313110388e-6
allele num: 108128
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.4-25C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.202-25C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-252-25C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9845C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.4-25C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-252-25C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-252-25C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.390G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-252-25C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-312C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-252-25C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+9999C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.199-25C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.4-25C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-252-25C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-252-25C>T
  variant of: http://identifiers.org/hgnc/9585
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP

9-98268912-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268912
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268912
    reference: chr 9
allele count: 2
allele frequency: 1.888110567754848e-5
allele num: 105926
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-252-31C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-252-31C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-252-31C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-252-31C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9839C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.396G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.4-31C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.202-31C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+9993C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-318C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-252-31C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.4-31C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-252-31C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.4-31C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.199-31C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-252-31C>T
  variant of: http://identifiers.org/hgnc/9585
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6976
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17724
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

9-98268915-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268915
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268915
    reference: chr 9
allele count: 1
allele frequency: 9.732928443510083e-6
allele num: 102744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-252-34C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.199-34C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-252-34C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-321C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.399G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.4-34C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.4-34C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9836C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-252-34C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.4-34C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+9990C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-252-34C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-252-34C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-252-34C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-252-34C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.202-34C>T
  variant of: http://identifiers.org/hgnc/9585
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7256
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11047
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18817
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

9-98268915-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268915
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268915
    reference: chr 9
allele count: 2
allele frequency: 1.946585688702017e-5
allele num: 102744
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-252-34C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-252-34C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-252-34C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-252-34C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9836C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-321C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.4-34C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.399G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-252-34C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.202-34C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-252-34C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.4-34C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.4-34C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-252-34C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.199-34C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+9990C>G
  variant of: http://identifiers.org/hgnc/9585
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11047
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

9-98268917-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268917
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268917
    reference: chr 9
allele count: 2
allele frequency: 1.943596820275602e-5
allele num: 102902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-252-36C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.202-36C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-252-36C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.199-36C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+9988C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.401G>A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-323C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-252-36C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.4-36C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-252-36C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9834C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-252-36C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.4-36C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.4-36C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-252-36C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-252-36C>T
  variant of: http://identifiers.org/hgnc/9585
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18930
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

9-98268920-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268920
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268920
    reference: chr 9
allele count: 2
allele frequency: 1.984757065735154e-5
allele num: 100768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-252-39C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9831C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-252-39C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.202-39C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.4-39C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-326C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-252-39C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-252-39C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.199-39C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+9985C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.4-39C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-252-39C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.4-39C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.404G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-252-39C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-252-39C>T
  variant of: http://identifiers.org/hgnc/9585
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6833
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

9-98268925-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268925
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268925
    reference: chr 9
allele count: 2
allele frequency: 2.050188617352796e-5
allele num: 97552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-252-44C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.409G>A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-331C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.4-44C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9826C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.199-44C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+9980C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-252-44C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.202-44C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-252-44C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.4-44C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-252-44C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-252-44C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.4-44C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-252-44C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-252-44C>T
  variant of: http://identifiers.org/hgnc/9585
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10545
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD

9-98268925-GGCCCGCGCGCCCACGCCC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268925
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268907
    reference: chr 9
allele count: 1
allele frequency: 1.025094308676398e-5
allele num: 97552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  variant of: http://identifiers.org/hgnc/9585
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15944
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: GGCCCGCGCGCCCACGCCC
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

9-98268931-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98268931
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98268931
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 93296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.4-50G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447008
  ensembl transcript: ENST00000551845
  gene symbol: PTCH1
  hgvsc: ENST00000551845.1:c.-252-50G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449078
  ensembl transcript: ENST00000548420
  gene symbol: PTCH1
  hgvsc: ENST00000548420.1:c.-337G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.4-50G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.-252-50G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.-252-50G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.4-50G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271155
  ensembl transcript: ENST00000604104
  gene symbol: RP11-435O5.5
  hgvsc: ENST00000604104.1:n.415C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.-252-50G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.199-50G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+9974G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000448843
  ensembl transcript: ENST00000546820
  gene symbol: PTCH1
  hgvsc: ENST00000546820.1:c.-252-50G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447878
  ensembl transcript: ENST00000547672
  gene symbol: PTCH1
  hgvsc: ENST00000547672.1:c.-252-50G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+9820G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447797
  ensembl transcript: ENST00000553011
  gene symbol: PTCH1
  hgvsc: ENST00000553011.1:c.-252-50G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.202-50G>C
  variant of: http://identifiers.org/hgnc/9585
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 16866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9577
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

9-98270392-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98270392
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98270393
    reference: chr 9
allele count: 1
allele frequency: 9.802383939774152e-6
allele num: 102016
alternate allele: AG
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.201+50_201+51insC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.4-1512_4-1511insC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.199-1512_199-1511insC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.4-1512_4-1511insC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+8512_36+8513insC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.4-1512_4-1511insC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+8358_190+8359insC
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14093
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8936
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4047
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3744
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4605
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5453
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14251
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

9-98270393-AAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98270393
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98270391
    reference: chr 9
allele count: 1
allele frequency: 9.510947100112229e-6
allele num: 105142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.4-1514_4-1513delCT
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.201+48_201+49delCT
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.199-1514_199-1513delCT
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+8510_36+8511delCT
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.4-1514_4-1513delCT
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+8356_190+8357delCT
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.4-1514_4-1513delCT
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13781
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16905
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3081
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5552
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5941
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: AAG
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

9-98270395-GAGTT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98270395
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98270391
    reference: chr 9
allele count: 3
allele frequency: 2.860739215013159e-5
allele num: 104868
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.4-1518_4-1515delAACT
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000449745
  ensembl transcript: ENST00000468211
  gene symbol: PTCH1
  hgvsc: ENST00000468211.2:c.4-1518_4-1515delAACT
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.199-1518_199-1515delAACT
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000551425
  gene symbol: PTCH1
  hgvsc: ENST00000551425.1:n.190+8352_190+8355delAACT
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.201+44_201+47delAACT
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.4-1518_4-1515delAACT
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000447242
  ensembl transcript: ENST00000551623
  gene symbol: PTCH1
  hgvsc: ENST00000551623.1:c.36+8506_36+8509delAACT
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8787
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: GAGTT

GenotypeDepth
all individuals: 232
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6355
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7065
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 16833
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 1511
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10827
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 15418
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2018
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12922
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 7111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1794
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1929
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1750
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 418
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 18203
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2445
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5113
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 679
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4980
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 9.754574895626048e-5
allele num: 51258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.025931928687196e-4
allele num: 4936
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8812
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

QD
type: SiteQuality
SIO_000300: 1.376e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

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

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51886
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 429
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5537
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512127260630255e-5
allele num: 66132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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: 16470
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.492e1

VQSLOD
type: SiteQuality
SIO_000300: 8.7e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 4.985e0

DP
type: SiteQuality
SIO_000300: 1.443131e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.088e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.322e0

MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeDepth
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2958
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 309
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 39553
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17055
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 4.25e1
variant carriers: 3

GenotypeDepth
all individuals: 108
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 15
bin: 5.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5536
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 996
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52016
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.662183807307565e-4
allele num: 66178
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.444624e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

QD
type: SiteQuality
SIO_000300: 1.32e1

VQSLOD
type: SiteQuality
SIO_000300: 4.76e0

GenotypeDepth
all individuals: 17068
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39542
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 350
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 310
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 107
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2976
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 746
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52024
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5536
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.161170459823502e-4
allele num: 8612
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

DP
type: SiteQuality
SIO_000300: 1.444547e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.883e0

VQSLOD
type: SiteQuality
SIO_000300: 5.34e-1

FS
type: SiteQuality
SIO_000300: 2.747e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.97e-1

QD
type: SiteQuality
SIO_000300: 1.517e1

Annotation
canonical: false
clinical significance: benign
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000185920
ensembl protein: ENSP00000399981
ensembl transcript: ENST00000421141
gene symbol: PTCH1
hgvsc: ENST00000421141.1:c.-136C>T
variant of: http://identifiers.org/hgnc/9585

Annotation
canonical: true
clinical significance: benign
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000271155
ensembl transcript: ENST00000604104
gene symbol: RP11-435O5.5
hgvsc: ENST00000604104.1:n.249G>A

GenotypeDepth
all individuals: 333
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 101
bin: 1.25e1
variant carriers: 4

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 35

GenotypeDepth
all individuals: 214
bin: 4.25e1
variant carriers: 147

GenotypeDepth
all individuals: 109
bin: 6.75e1
variant carriers: 108

GenotypeDepth
all individuals: 161
bin: 6.25e1
variant carriers: 156

GenotypeDepth
all individuals: 63
bin: 8.25e1
variant carriers: 61

GenotypeDepth
all individuals: 224
bin: 4.75e1
variant carriers: 199

GenotypeDepth
all individuals: 207
bin: 5.75e1
variant carriers: 196

GenotypeDepth
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 38488
bin: 2.25e1
variant carriers: 23

GenotypeDepth
all individuals: 110
bin: 1.75e1
variant carriers: 6

GenotypeDepth
all individuals: 16749
bin: 2.75e1
variant carriers: 35

GenotypeDepth
all individuals: 2883
bin: 3.25e1
variant carriers: 65

GenotypeDepth
all individuals: 79
bin: 7.75e1
variant carriers: 77

GenotypeDepth
all individuals: 43
bin: 8.75e1
variant carriers: 42

GenotypeDepth
all individuals: 123
bin: 7.25e1
variant carriers: 120

GenotypeDepth
all individuals: 225
bin: 5.25e1
variant carriers: 203

GenotypeDepth
all individuals: 139
bin: 9.75e1
variant carriers: 139

GenotypeDepth
all individuals: 379
bin: 3.75e1
variant carriers: 111

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1836
bin: 9.75e1
variant carriers: 1726

GenotypeQuality
all individuals: 647
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51016
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 376
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 7.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5288
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 38
allele frequency: 5.748865355521936e-3
allele num: 6610
num of homozygotes: 0

African
type: Population
allele count: 43
allele frequency: 4.17070805043647e-3
allele num: 10310
num of homozygotes: 0

Latino
type: Population
allele count: 140
allele frequency: 1.214645150095436e-2
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1418
allele frequency: 2.141541063823361e-2
allele num: 66214
num of homozygotes: 9

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

South Asian
type: Population
allele count: 83
allele frequency: 5.03457479073153e-3
allele num: 16486
num of homozygotes: 1

Other
type: Population
allele count: 15
allele frequency: 1.666666666666667e-2
allele num: 900
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.506695e6

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.48e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.174e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

QD
type: SiteQuality
SIO_000300: 1.327e1

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

GenotypeDepth
all individuals: 319
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 17762
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38698
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3196
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 6.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 248
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5613
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52158
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510254628930438e-5
allele num: 66214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

FS
type: SiteQuality
SIO_000300: 2.161e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.35e-1

QD
type: SiteQuality
SIO_000300: 1.054e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

DP
type: SiteQuality
SIO_000300: 1.449984e6

GenotypeDepth
all individuals: 306
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 17822
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38636
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3196
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
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variant carriers: 0

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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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MQ
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FS
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QD
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InbreedingCoeff
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ReadPosRankSum
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DP
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GenotypeDepth
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East Asian
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European (Finnish)
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European (Non-Finnish)
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South Asian
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African
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QD
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FS
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MQ
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DP
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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East Asian
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African
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East Asian
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66210
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East Asian
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African
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European (Finnish)
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Latino
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South Asian
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Other
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FS
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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QD
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VQSLOD
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DP
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InbreedingCoeff
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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European (Non-Finnish)
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African
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European (Finnish)
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South Asian
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VQSLOD
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InbreedingCoeff
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FS
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QD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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DP
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MQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66032
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Latino
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Other
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African
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East Asian
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South Asian
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European (Finnish)
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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FS
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MQRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Latino
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Other
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FS
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QD
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQ
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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East Asian
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DP
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QD
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ClippingRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQ
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2391
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5096
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49394
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9930
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.188884762965714e-5
allele num: 16158
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.558e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.414174e6

VQSLOD
type: SiteQuality
SIO_000300: 3.05e-1

QD
type: SiteQuality
SIO_000300: 1.171e1

Annotation
canonical: false
clinical significance: not_provided
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000185920
ensembl protein: ENSP00000447878
ensembl transcript: ENST00000547672
gene symbol: PTCH1
hgvsc: ENST00000547672.1:c.-242C>T
variant of: http://identifiers.org/hgnc/9585

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000185920
ensembl transcript: ENST00000548945
gene symbol: PTCH1
hgvsc: ENST00000548945.2:n.11C>T
variant of: http://identifiers.org/hgnc/9585

GenotypeDepth
all individuals: 28
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2244
bin: 1.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 1489
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2957
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 17161
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 186
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 3.75e1
variant carriers: 3

GenotypeDepth
all individuals: 35617
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 2
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 639
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48627
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3073
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4978
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9826
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64794
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.178411501296253e-4
allele num: 8486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.593536357986327e-4
allele num: 16090
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

FS
type: SiteQuality
SIO_000300: 2.923e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 1.401412e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.72e-1

QD
type: SiteQuality
SIO_000300: 1.125e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.609e0

GenotypeDepth
all individuals: 29
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 34889
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2896
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16861
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1741
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2873
bin: 1.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 796
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 379
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3779
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 773
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47421
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4880
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55053183241852e-5
allele num: 64494
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15956
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.45e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.051e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.611e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.231e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 1.387709e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

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

GenotypeDepth
all individuals: 34881
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 780
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 232
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1756
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2895
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2882
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16871
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3806
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4862
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47609
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.550868486352357e-5
allele num: 64480
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15944
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.492e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.55e-1

DP
type: SiteQuality
SIO_000300: 1.387452e6

MQRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

QD
type: SiteQuality
SIO_000300: 1.14e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.51e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000185920
ensembl transcript: ENST00000548945
gene symbol: PTCH1
hgvsc: ENST00000548945.2:n.2G>A
variant of: http://identifiers.org/hgnc/9585

GenotypeDepth
all individuals: 33790
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1009
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 240
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2155
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16423
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2780
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3866
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4914
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45879
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 725
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4696
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.562109472631842e-5
allele num: 64016
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.73e-1

DP
type: SiteQuality
SIO_000300: 1.365902e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.371e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.919999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.73e-1

GenotypeDepth
all individuals: 5749
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 15611
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 395
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 31704
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2530
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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 frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.168166265365607e-5
allele num: 63128
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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InbreedingCoeff
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MQ
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ClippingRankSum
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ReadPosRankSum
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QD
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FS
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BaseQRankSum
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MQRankSum
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SIO_000300: -2.68e-1

VQSLOD
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DP
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SIO_000300: 1.32531e6

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 8.960573476702509e-5
allele num: 11160
num of homozygotes: 0

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

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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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63020
num of homozygotes: 0

Other
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ReadPosRankSum
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SIO_000300: -7.68e-1

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

African
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allele 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

East Asian
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allele frequency: 1.258494840171155e-4
allele num: 7946
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: -8.92e-1

FS
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -9.2e-2

DP
type: SiteQuality
SIO_000300: 1.184157e6

VQSLOD
type: SiteQuality
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QD
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GenotypeDepth
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variant carriers: 0

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

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

Other
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.663229326059477e-5
allele num: 60124
num of homozygotes: 0

African
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MQ
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SIO_000300: 6.0e1

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59580
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
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allele num: 58264
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European (Finnish)
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Latino
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allele frequency: 0.0e0
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African
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Other
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QD
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MQRankSum
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VQSLOD
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DP
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FS
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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African
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South Asian
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East Asian
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Latino
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Other
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DP
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FS
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MQ
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ReadPosRankSum
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QD
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VQSLOD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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Other
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European (Finnish)
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African
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Latino
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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VQSLOD
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FS
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QD
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DP
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MQ
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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African
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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QD
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DP
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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FS
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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Other
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Latino
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South Asian
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East Asian
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MQRankSum
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DP
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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BaseQRankSum
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FS
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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European (Non-Finnish)
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Other
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East Asian
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South Asian
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ReadPosRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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MQ
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BaseQRankSum
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FS
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DP
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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East Asian
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African
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Latino
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European (Non-Finnish)
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Other
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European (Finnish)
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ClippingRankSum
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VQSLOD
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FS
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DP
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InbreedingCoeff
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QD
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MQRankSum
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MQ
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

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

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3358
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5670
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3847
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3208
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5436
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2958
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4031
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12428
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2171
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6805
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1120
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8619
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6894
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51378
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.1032e5

QD
type: SiteQuality
SIO_000300: 1.964e1

GenotypeQuality
all individuals: 5737
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1234
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5709
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1452
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3718
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.813499691705052e-5
allele num: 55142
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15334
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7748
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5094
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

DP
type: SiteQuality
SIO_000300: 1.142733e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.968e1

VQSLOD
type: SiteQuality
SIO_000300: 4.17e0

MQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

MQ
type: SiteQuality
SIO_000300: 6.148e1

GenotypeQuality
all individuals: 1269
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6555
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4083
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4010
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3308
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4344
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7988
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7998
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.76273576590869e-5
allele num: 56730
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.035e-1

FS
type: SiteQuality
SIO_000300: 9.612e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

QD
type: SiteQuality
SIO_000300: 2.807e1

DP
type: SiteQuality
SIO_000300: 1.141245e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.29e-1

MQ
type: SiteQuality
SIO_000300: 5.642e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1