{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA9808536", "communityStandardTitle": [ "NM_015338.6(ASXL1):c.2077C>T (p.Arg693Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=51388", "active": true, "id": "COSM51388" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4169684", "active": true, "id": "COSM4169684" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=611909[alleleid]", "alleleId": 611909, "preferredName": "NM_015338.6(ASXL1):c.2077C>T (p.Arg693Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/620281", "RCV": [ "RCV000760645", "RCV002282359", "RCV003147544", "RCV004526768" ], "variationId": 620281 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/20-31022592-C-T", "id": "20-31022592-C-T", "variant": "20:31022592 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.31022592C>T?assembly=hg19", "id": "chr20:g.31022592C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.32434789C>T?assembly=hg38", "id": "chr20:g.32434789C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/373221034", "rs": 373221034 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-31022592-C-T?dataset=gnomad_r2_1", "id": "20-31022592-C-T", "variant": "20:31022592 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-32434789-C-T?dataset=gnomad_r3", "id": "20-32434789-C-T", "variant": "20:32434789 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-32434789-C-T?dataset=gnomad_r4", "id": "20-32434789-C-T", "variant": "20:32434789 C / T" } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 32434789, "referenceAllele": "C", "start": 32434788 } ], "hgvs": [ "NC_000020.11:g.32434789C>T", "CM000682.2:g.32434789C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 31022592, "referenceAllele": "C", "start": 31022591 } ], "hgvs": [ "NC_000020.10:g.31022592C>T", "CM000682.1:g.31022592C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 30486253, "referenceAllele": "C", "start": 30486252 } ], "hgvs": [ "NC_000020.9:g.30486253C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "T", "end": 81446, "referenceAllele": "C", "start": 81445 } ], "hgvs": [ "NG_027868.1:g.81446C>T", "LRG_630:g.81446C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003997" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2522, "referenceAllele": "C", "start": 2521 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000375687.10:c.2077C>T" ], "proteinEffect": { "hgvs": "ENSP00000364839.4:p.Arg693Ter", "hgvsWellDefined": "ENSP00000364839.4:p.Arg693_Arg1541delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751652", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375687.10:c.2077C>T" }, "RefSeq": { "hgvs": "NM_015338.6:c.2077C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364839.4:p.Arg693Ter" }, "RefSeq": { "hgvs": "NP_056153.2:p.Arg693Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2137, "referenceAllele": "C", "start": 2136 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000646985.1:c.1894C>T" ], "proteinEffect": { "hgvs": "ENSP00000495053.1:p.Arg632Ter", "hgvsWellDefined": "ENSP00000495053.1:p.Arg632_Arg1480delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769174" }, { "coordinates": [ { "allele": "T", "end": 4430, "referenceAllele": "C", "start": 4429 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000647223.1:n.4430C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769293" }, { "coordinates": [ { "allele": "T", "end": 2315, "endIntronDirection": "+", "endIntronOffset": 208, "referenceAllele": "C", "start": 2315, "startIntronDirection": "+", "startIntronOffset": 207 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000651418.1:c.1869+208C>T" ], "proteinEffect": { "hgvs": "ENSP00000499150.1:n.1869+208C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS771655" }, { "coordinates": [ { "allele": "T", "end": 2062, "referenceAllele": "C", "start": 2061 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000306058.9:c.2062C>T" ], "proteinEffect": { "hgvs": "ENSP00000305119.5:p.Arg688Ter", "hgvsWellDefined": "ENSP00000305119.5:p.Arg688_Arg1536delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255672" }, { "coordinates": [ { "allele": "T", "end": 2501, "referenceAllele": "C", "start": 2500 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000375687.8:c.2077C>T" ], "proteinEffect": { "hgvs": "ENSP00000364839.4:p.Arg693Ter", "hgvsWellDefined": "ENSP00000364839.4:p.Arg693_Arg1541delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270818" }, { "coordinates": [ { "allele": "T", "end": 2509, "referenceAllele": "C", "start": 2508 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000613218.4:c.2077C>T" ], "proteinEffect": { "hgvs": "ENSP00000480487.1:p.Arg693Ter", "hgvsWellDefined": "ENSP00000480487.1:p.Arg693_Arg1541delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401651" }, { "coordinates": [ { "allele": "T", "end": 2272, "referenceAllele": "C", "start": 2271 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000620121.4:c.2077C>T" ], "proteinEffect": { "hgvs": "ENSP00000481978.1:p.Arg693Ter", "hgvsWellDefined": "ENSP00000481978.1:p.Arg693_Arg1541delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404683" }, { "@id": "http://reg.genome.network/allele/PA913195234", "coordinates": [ { "allele": "T", "end": 2509, "referenceAllele": "C", "start": 2508 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "NM_015338.5:c.2077C>T", "LRG_630t1:c.2077C>T" ], "proteinEffect": { "hgvs": "NP_056153.2:p.Arg693Ter", "hgvsWellDefined": "NP_056153.2:p.Arg693_Arg1541delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033938" }, { "coordinates": [ { "allele": "T", "end": 2141, "referenceAllele": "C", "start": 2140 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723727.2:c.2074C>T" ], "proteinEffect": { "hgvs": "XP_006723790.1:p.Arg692Ter", "hgvsWellDefined": "XP_006723790.1:p.Arg692_Arg1540delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075176" }, { "coordinates": [ { "allele": "T", "end": 2118, "referenceAllele": "C", "start": 2117 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723728.2:c.2047C>T" ], "proteinEffect": { "hgvs": "XP_006723791.1:p.Arg683Ter", "hgvsWellDefined": "XP_006723791.1:p.Arg683_Arg1531delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075177" }, { "coordinates": [ { "allele": "T", "end": 2315, "referenceAllele": "C", "start": 2314 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723730.2:c.1993C>T" ], "proteinEffect": { "hgvs": "XP_006723793.1:p.Arg665Ter", "hgvsWellDefined": "XP_006723793.1:p.Arg665_Arg1513delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075178" }, { "coordinates": [ { "allele": "T", "end": 2137, "referenceAllele": "C", "start": 2136 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723732.2:c.1894C>T" ], "proteinEffect": { "hgvs": "XP_006723795.1:p.Arg632Ter", "hgvsWellDefined": "XP_006723795.1:p.Arg632_Arg1480delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075179" }, { "coordinates": [ { "allele": "T", "end": 2143, "referenceAllele": "C", "start": 2142 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723733.1:c.1393C>T" ], "proteinEffect": { "hgvs": "XP_006723796.1:p.Arg465Ter", "hgvsWellDefined": "XP_006723796.1:p.Arg465_Arg1313delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075180" }, { "coordinates": [ { "allele": "T", "end": 2373, "referenceAllele": "C", "start": 2372 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528647.1:c.2341C>T" ], "proteinEffect": { "hgvs": "XP_011526949.1:p.Arg781Ter", "hgvsWellDefined": "XP_011526949.1:p.Arg781_Arg1629delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095718" }, { "coordinates": [ { "allele": "T", "end": 2370, "referenceAllele": "C", "start": 2369 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528648.1:c.2338C>T" ], "proteinEffect": { "hgvs": "XP_011526950.1:p.Arg780Ter", "hgvsWellDefined": "XP_011526950.1:p.Arg780_Arg1628delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095719" }, { "coordinates": [ { "allele": "T", "end": 2289, "referenceAllele": "C", "start": 2288 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528649.1:c.2257C>T" ], "proteinEffect": { "hgvs": "XP_011526951.1:p.Arg753Ter", "hgvsWellDefined": "XP_011526951.1:p.Arg753_Arg1601delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095720" }, { "coordinates": [ { "allele": "T", "end": 2220, "referenceAllele": "C", "start": 2219 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528650.1:c.2188C>T" ], "proteinEffect": { "hgvs": "XP_011526952.1:p.Arg730Ter", "hgvsWellDefined": "XP_011526952.1:p.Arg730_Arg1578delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095721" }, { "coordinates": [ { "allele": "T", "end": 2081, "referenceAllele": "C", "start": 2080 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528651.1:c.2056C>T" ], "proteinEffect": { "hgvs": "XP_011526953.1:p.Arg686Ter", "hgvsWellDefined": "XP_011526953.1:p.Arg686_Arg1534delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095722" }, { "coordinates": [ { "allele": "T", "end": 2836, "referenceAllele": "C", "start": 2835 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528652.1:c.1993C>T" ], "proteinEffect": { "hgvs": "XP_011526954.1:p.Arg665Ter", "hgvsWellDefined": "XP_011526954.1:p.Arg665_Arg1513delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095723" }, { "@id": "http://reg.genome.network/allele/PA2828107729", "coordinates": [ { "allele": "T", "end": 2137, "referenceAllele": "C", "start": 2136 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "NM_001363734.1:c.1894C>T" ], "proteinEffect": { "hgvs": "NP_001350663.1:p.Arg632Ter", "hgvsWellDefined": "NP_001350663.1:p.Arg632_Arg1480delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523517" }, { "coordinates": [ { "allele": "T", "end": 2788, "referenceAllele": "C", "start": 2787 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723727.3:c.2074C>T" ], "proteinEffect": { "hgvs": "XP_006723790.1:p.Arg692Ter", "hgvsWellDefined": "XP_006723790.1:p.Arg692_Arg1540delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540813" }, { "coordinates": [ { "allele": "T", "end": 2118, "referenceAllele": "C", "start": 2117 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723728.3:c.2047C>T" ], "proteinEffect": { "hgvs": "XP_006723791.1:p.Arg683Ter", "hgvsWellDefined": "XP_006723791.1:p.Arg683_Arg1531delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540814" }, { "coordinates": [ { "allele": "T", "end": 2426, "referenceAllele": "C", "start": 2425 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723730.4:c.1993C>T" ], "proteinEffect": { "hgvs": "XP_006723793.1:p.Arg665Ter", "hgvsWellDefined": "XP_006723793.1:p.Arg665_Arg1513delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540815" }, { "coordinates": [ { "allele": "T", "end": 2353, "referenceAllele": "C", "start": 2352 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528648.3:c.2338C>T" ], "proteinEffect": { "hgvs": "XP_011526950.1:p.Arg780Ter", "hgvsWellDefined": "XP_011526950.1:p.Arg780_Arg1628delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549199" }, { "coordinates": [ { "allele": "T", "end": 3451, "referenceAllele": "C", "start": 3450 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528652.2:c.1993C>T" ], "proteinEffect": { "hgvs": "XP_011526954.1:p.Arg665Ter", "hgvsWellDefined": "XP_011526954.1:p.Arg665_Arg1513delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549200" }, { "coordinates": [ { "allele": "T", "end": 3574, "referenceAllele": "C", "start": 3573 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_017027704.1:c.1993C>T" ], "proteinEffect": { "hgvs": "XP_016883193.1:p.Arg665Ter", "hgvsWellDefined": "XP_016883193.1:p.Arg665_Arg1513delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577606" }, { "coordinates": [ { "allele": "T", "end": 2587, "referenceAllele": "C", "start": 2586 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_017027705.1:c.1993C>T" ], "proteinEffect": { "hgvs": "XP_016883194.1:p.Arg665Ter", "hgvsWellDefined": "XP_016883194.1:p.Arg665_Arg1513delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577607" }, { "coordinates": [ { "allele": "T", "end": 2638, "referenceAllele": "C", "start": 2637 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_017027706.1:c.1924C>T" ], "proteinEffect": { "hgvs": "XP_016883195.1:p.Arg642Ter", "hgvsWellDefined": "XP_016883195.1:p.Arg642_Arg1490delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577608" }, { "@id": "http://reg.genome.network/allele/PA913195234", "coordinates": [ { "allele": "T", "end": 2522, "referenceAllele": "C", "start": 2521 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "NM_015338.6:c.2077C>T" ], "proteinEffect": { "hgvs": "NP_056153.2:p.Arg693Ter", "hgvsWellDefined": "NP_056153.2:p.Arg693_Arg1541delinsThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697514", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375687.10:c.2077C>T" }, "RefSeq": { "hgvs": "NM_015338.6:c.2077C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364839.4:p.Arg693Ter" }, "RefSeq": { "hgvs": "NP_056153.2:p.Arg693Ter" } } } } ], "type": "nucleotide" }