{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA129594", "communityStandardTitle": [ "NM_015338.6(ASXL1):c.2197C>T (p.Gln733Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1318847", "active": true, "id": "COSM1318847" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3720470", "active": true, "id": "COSM3720470" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39946[alleleid]", "alleleId": 39946, "preferredName": "NM_015338.6(ASXL1):c.2197C>T (p.Gln733Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30989", "RCV": [ "RCV000023980", "RCV004541016", "RCV004525858" ], "variationId": 30989 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/20-31022712-C-T", "id": "20-31022712-C-T", "variant": "20:31022712 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.31022712C>T?assembly=hg19", "id": "chr20:g.31022712C>T" }, { "@id": "http://myvariant.info/v1/variant/chr20:g.31022712_31022713delinsTA?assembly=hg19", "id": "chr20:g.31022712_31022713delinsTA" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.32434909C>T?assembly=hg38", "id": "chr20:g.32434909C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/387907078", "rs": 387907078 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-31022712-C-T?dataset=gnomad_r2_1", "id": "20-31022712-C-T", "variant": "20:31022712 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-32434909-C-T?dataset=gnomad_r3", "id": "20-32434909-C-T", "variant": "20:32434909 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-32434909-C-T?dataset=gnomad_r4", "id": "20-32434909-C-T", "variant": "20:32434909 C / T" } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 32434909, "referenceAllele": "C", "start": 32434908 } ], "hgvs": [ "NC_000020.11:g.32434909C>T", "CM000682.2:g.32434909C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 31022712, "referenceAllele": "C", "start": 31022711 } ], "hgvs": [ "NC_000020.10:g.31022712C>T", "CM000682.1:g.31022712C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 30486373, "referenceAllele": "C", "start": 30486372 } ], "hgvs": [ "NC_000020.9:g.30486373C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "T", "end": 81566, "referenceAllele": "C", "start": 81565 } ], "hgvs": [ "NG_027868.1:g.81566C>T", "LRG_630:g.81566C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003997" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2642, "referenceAllele": "C", "start": 2641 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000375687.10:c.2197C>T" ], "proteinEffect": { "hgvs": "ENSP00000364839.4:p.Gln733Ter", "hgvsWellDefined": "ENSP00000364839.4:p.Gln733_Arg1541delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751652", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375687.10:c.2197C>T" }, "RefSeq": { "hgvs": "NM_015338.6:c.2197C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364839.4:p.Gln733Ter" }, "RefSeq": { "hgvs": "NP_056153.2:p.Gln733Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2257, "referenceAllele": "C", "start": 2256 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000646985.1:c.2014C>T" ], "proteinEffect": { "hgvs": "ENSP00000495053.1:p.Gln672Ter", "hgvsWellDefined": "ENSP00000495053.1:p.Gln672_Arg1480delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769174" }, { "coordinates": [ { "allele": "T", "end": 4550, "referenceAllele": "C", "start": 4549 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000647223.1:n.4550C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769293" }, { "coordinates": [ { "allele": "T", "end": 2315, "endIntronDirection": "+", "endIntronOffset": 328, "referenceAllele": "C", "start": 2315, "startIntronDirection": "+", "startIntronOffset": 327 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000651418.1:c.1869+328C>T" ], "proteinEffect": { "hgvs": "ENSP00000499150.1:n.1869+328C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS771655" }, { "coordinates": [ { "allele": "T", "end": 2182, "referenceAllele": "C", "start": 2181 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000306058.9:c.2182C>T" ], "proteinEffect": { "hgvs": "ENSP00000305119.5:p.Gln728Ter", "hgvsWellDefined": "ENSP00000305119.5:p.Gln728_Arg1536delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255672" }, { "coordinates": [ { "allele": "T", "end": 2621, "referenceAllele": "C", "start": 2620 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000375687.8:c.2197C>T" ], "proteinEffect": { "hgvs": "ENSP00000364839.4:p.Gln733Ter", "hgvsWellDefined": "ENSP00000364839.4:p.Gln733_Arg1541delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270818" }, { "coordinates": [ { "allele": "T", "end": 2629, "referenceAllele": "C", "start": 2628 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000613218.4:c.2197C>T" ], "proteinEffect": { "hgvs": "ENSP00000480487.1:p.Gln733Ter", "hgvsWellDefined": "ENSP00000480487.1:p.Gln733_Arg1541delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401651" }, { "coordinates": [ { "allele": "T", "end": 2392, "referenceAllele": "C", "start": 2391 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000620121.4:c.2197C>T" ], "proteinEffect": { "hgvs": "ENSP00000481978.1:p.Gln733Ter", "hgvsWellDefined": "ENSP00000481978.1:p.Gln733_Arg1541delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404683" }, { "@id": "http://reg.genome.network/allele/PA129596", "coordinates": [ { "allele": "T", "end": 2629, "referenceAllele": "C", "start": 2628 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "NM_015338.5:c.2197C>T", "LRG_630t1:c.2197C>T" ], "proteinEffect": { "hgvs": "NP_056153.2:p.Gln733Ter", "hgvsWellDefined": "NP_056153.2:p.Gln733_Arg1541delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033938" }, { "coordinates": [ { "allele": "T", "end": 2261, "referenceAllele": "C", "start": 2260 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723727.2:c.2194C>T" ], "proteinEffect": { "hgvs": "XP_006723790.1:p.Gln732Ter", "hgvsWellDefined": "XP_006723790.1:p.Gln732_Arg1540delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075176" }, { "coordinates": [ { "allele": "T", "end": 2238, "referenceAllele": "C", "start": 2237 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723728.2:c.2167C>T" ], "proteinEffect": { "hgvs": "XP_006723791.1:p.Gln723Ter", "hgvsWellDefined": "XP_006723791.1:p.Gln723_Arg1531delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075177" }, { "coordinates": [ { "allele": "T", "end": 2435, "referenceAllele": "C", "start": 2434 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723730.2:c.2113C>T" ], "proteinEffect": { "hgvs": "XP_006723793.1:p.Gln705Ter", "hgvsWellDefined": "XP_006723793.1:p.Gln705_Arg1513delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075178" }, { "coordinates": [ { "allele": "T", "end": 2257, "referenceAllele": "C", "start": 2256 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723732.2:c.2014C>T" ], "proteinEffect": { "hgvs": "XP_006723795.1:p.Gln672Ter", "hgvsWellDefined": "XP_006723795.1:p.Gln672_Arg1480delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075179" }, { "coordinates": [ { "allele": "T", "end": 2263, "referenceAllele": "C", "start": 2262 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723733.1:c.1513C>T" ], "proteinEffect": { "hgvs": "XP_006723796.1:p.Gln505Ter", "hgvsWellDefined": "XP_006723796.1:p.Gln505_Arg1313delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075180" }, { "coordinates": [ { "allele": "T", "end": 2493, "referenceAllele": "C", "start": 2492 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528647.1:c.2461C>T" ], "proteinEffect": { "hgvs": "XP_011526949.1:p.Gln821Ter", "hgvsWellDefined": "XP_011526949.1:p.Gln821_Arg1629delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095718" }, { "coordinates": [ { "allele": "T", "end": 2490, "referenceAllele": "C", "start": 2489 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528648.1:c.2458C>T" ], "proteinEffect": { "hgvs": "XP_011526950.1:p.Gln820Ter", "hgvsWellDefined": "XP_011526950.1:p.Gln820_Arg1628delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095719" }, { "coordinates": [ { "allele": "T", "end": 2409, "referenceAllele": "C", "start": 2408 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528649.1:c.2377C>T" ], "proteinEffect": { "hgvs": "XP_011526951.1:p.Gln793Ter", "hgvsWellDefined": "XP_011526951.1:p.Gln793_Arg1601delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095720" }, { "coordinates": [ { "allele": "T", "end": 2340, "referenceAllele": "C", "start": 2339 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528650.1:c.2308C>T" ], "proteinEffect": { "hgvs": "XP_011526952.1:p.Gln770Ter", "hgvsWellDefined": "XP_011526952.1:p.Gln770_Arg1578delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095721" }, { "coordinates": [ { "allele": "T", "end": 2201, "referenceAllele": "C", "start": 2200 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528651.1:c.2176C>T" ], "proteinEffect": { "hgvs": "XP_011526953.1:p.Gln726Ter", "hgvsWellDefined": "XP_011526953.1:p.Gln726_Arg1534delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095722" }, { "coordinates": [ { "allele": "T", "end": 2956, "referenceAllele": "C", "start": 2955 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528652.1:c.2113C>T" ], "proteinEffect": { "hgvs": "XP_011526954.1:p.Gln705Ter", "hgvsWellDefined": "XP_011526954.1:p.Gln705_Arg1513delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095723" }, { "@id": "http://reg.genome.network/allele/PA2828107748", "coordinates": [ { "allele": "T", "end": 2257, "referenceAllele": "C", "start": 2256 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "NM_001363734.1:c.2014C>T" ], "proteinEffect": { "hgvs": "NP_001350663.1:p.Gln672Ter", "hgvsWellDefined": "NP_001350663.1:p.Gln672_Arg1480delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523517" }, { "coordinates": [ { "allele": "T", "end": 2908, "referenceAllele": "C", "start": 2907 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723727.3:c.2194C>T" ], "proteinEffect": { "hgvs": "XP_006723790.1:p.Gln732Ter", "hgvsWellDefined": "XP_006723790.1:p.Gln732_Arg1540delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540813" }, { "coordinates": [ { "allele": "T", "end": 2238, "referenceAllele": "C", "start": 2237 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723728.3:c.2167C>T" ], "proteinEffect": { "hgvs": "XP_006723791.1:p.Gln723Ter", "hgvsWellDefined": "XP_006723791.1:p.Gln723_Arg1531delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540814" }, { "coordinates": [ { "allele": "T", "end": 2546, "referenceAllele": "C", "start": 2545 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723730.4:c.2113C>T" ], "proteinEffect": { "hgvs": "XP_006723793.1:p.Gln705Ter", "hgvsWellDefined": "XP_006723793.1:p.Gln705_Arg1513delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540815" }, { "coordinates": [ { "allele": "T", "end": 2473, "referenceAllele": "C", "start": 2472 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528648.3:c.2458C>T" ], "proteinEffect": { "hgvs": "XP_011526950.1:p.Gln820Ter", "hgvsWellDefined": "XP_011526950.1:p.Gln820_Arg1628delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549199" }, { "coordinates": [ { "allele": "T", "end": 3571, "referenceAllele": "C", "start": 3570 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528652.2:c.2113C>T" ], "proteinEffect": { "hgvs": "XP_011526954.1:p.Gln705Ter", "hgvsWellDefined": "XP_011526954.1:p.Gln705_Arg1513delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549200" }, { "coordinates": [ { "allele": "T", "end": 3694, "referenceAllele": "C", "start": 3693 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_017027704.1:c.2113C>T" ], "proteinEffect": { "hgvs": "XP_016883193.1:p.Gln705Ter", "hgvsWellDefined": "XP_016883193.1:p.Gln705_Arg1513delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577606" }, { "coordinates": [ { "allele": "T", "end": 2707, "referenceAllele": "C", "start": 2706 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_017027705.1:c.2113C>T" ], "proteinEffect": { "hgvs": "XP_016883194.1:p.Gln705Ter", "hgvsWellDefined": "XP_016883194.1:p.Gln705_Arg1513delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577607" }, { "coordinates": [ { "allele": "T", "end": 2758, "referenceAllele": "C", "start": 2757 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_017027706.1:c.2044C>T" ], "proteinEffect": { "hgvs": "XP_016883195.1:p.Gln682Ter", "hgvsWellDefined": "XP_016883195.1:p.Gln682_Arg1490delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577608" }, { "@id": "http://reg.genome.network/allele/PA129596", "coordinates": [ { "allele": "T", "end": 2642, "referenceAllele": "C", "start": 2641 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "NM_015338.6:c.2197C>T" ], "proteinEffect": { "hgvs": "NP_056153.2:p.Gln733Ter", "hgvsWellDefined": "NP_056153.2:p.Gln733_Arg1541delinsArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697514", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375687.10:c.2197C>T" }, "RefSeq": { "hgvs": "NM_015338.6:c.2197C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364839.4:p.Gln733Ter" }, "RefSeq": { "hgvs": "NP_056153.2:p.Gln733Ter" } } } } ], "type": "nucleotide" }