{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA319683", "communityStandardTitle": [ "NM_022455.5(NSD1):c.5950C>T (p.Arg1984Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3697157", "active": true, "id": "COSM3697157" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3697158", "active": true, "id": "COSM3697158" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=205743[alleleid]", "alleleId": 205743, "preferredName": "NM_022455.5(NSD1):c.5950C>T (p.Arg1984Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/209175", "RCV": [ "RCV003441773", "RCV003231367" ], "variationId": 209175 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.176709523C>T?assembly=hg19", "id": "chr5:g.176709523C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.177282522C>T?assembly=hg38", "id": "chr5:g.177282522C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/797045057", "rs": 797045057 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 177282522, "referenceAllele": "C", "start": 177282521 } ], "hgvs": [ "NC_000005.10:g.177282522C>T", "CM000667.2:g.177282522C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 176709523, "referenceAllele": "C", "start": 176709522 } ], "hgvs": [ "NC_000005.9:g.176709523C>T", "CM000667.1:g.176709523C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 176642129, "referenceAllele": "C", "start": 176642128 } ], "hgvs": [ "NC_000005.8:g.176642129C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 154444, "referenceAllele": "C", "start": 154443 } ], "hgvs": [ "NG_009821.1:g.154444C>T", "LRG_512:g.154444C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001658" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 5332, "referenceAllele": "C", "start": 5331 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000508896.7:c.5077C>T" ], "proteinEffect": { "hgvs": "ENSP00000423372.3:p.Arg1693Ter", "hgvsWellDefined": "ENSP00000423372.3:p.Arg1693_Lys2405delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914192" }, { "coordinates": [ { "allele": "T", "end": 5244, "referenceAllele": "C", "start": 5243 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000347982.9:c.5077C>T" ], "proteinEffect": { "hgvs": "ENSP00000343209.5:p.Arg1693Ter", "hgvsWellDefined": "ENSP00000343209.5:p.Arg1693_Lys2405delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824051" }, { "coordinates": [ { "allele": "T", "end": 5303, "referenceAllele": "C", "start": 5302 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000354179.9:c.5077C>T" ], "proteinEffect": { "hgvs": "ENSP00000346111.5:p.Arg1693Ter", "hgvsWellDefined": "ENSP00000346111.5:p.Arg1693_Lys2405delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824070" }, { "coordinates": [ { "allele": "T", "end": 887, "referenceAllele": "C", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000503056.6:c.592C>T" ], "proteinEffect": { "hgvs": "ENSP00000424024.2:p.Arg198Ter", "hgvsWellDefined": "ENSP00000424024.2:p.Arg198_Lys910delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825500" }, { "coordinates": [ { "allele": "T", "end": 1051, "referenceAllele": "C", "start": 1050 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000508029.6:c.592C>T" ], "proteinEffect": { "hgvs": "ENSP00000425120.2:p.Arg198Ter", "hgvsWellDefined": "ENSP00000425120.2:p.Arg198_Lys910delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825535" }, { "coordinates": [ { "allele": "T", "end": 5533, "referenceAllele": "C", "start": 5532 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000685206.1:n.5533C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829942" }, { "coordinates": [ { "allele": "T", "end": 5262, "referenceAllele": "C", "start": 5261 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000686993.1:c.5077C>T" ], "proteinEffect": { "hgvs": "ENSP00000510020.1:p.Arg1693Ter", "hgvsWellDefined": "ENSP00000510020.1:p.Arg1693_Lys2405delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830852" }, { "coordinates": [ { "allele": "T", "end": 5659, "referenceAllele": "C", "start": 5658 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000687453.1:c.5641C>T" ], "proteinEffect": { "hgvs": "ENSP00000508426.1:p.Arg1881Ter", "hgvsWellDefined": "ENSP00000508426.1:p.Arg1881_Lys2593delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831094" }, { "coordinates": [ { "allele": "T", "end": 5347, "referenceAllele": "C", "start": 5346 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000688613.1:n.5347C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831725" }, { "coordinates": [ { "allele": "T", "end": 5280, "referenceAllele": "C", "start": 5279 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000689345.1:c.5077C>T" ], "proteinEffect": { "hgvs": "ENSP00000509711.1:p.Arg1693Ter", "hgvsWellDefined": "ENSP00000509711.1:p.Arg1693_Lys2405delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832121" }, { "coordinates": [ { "allele": "T", "end": 6097, "referenceAllele": "C", "start": 6096 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000689549.1:n.6097C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832234" }, { "coordinates": [ { "allele": "T", "end": 4499, "referenceAllele": "C", "start": 4498 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000692024.1:n.4499C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS833502" }, { "coordinates": [ { "allele": "T", "end": 6147, "referenceAllele": "C", "start": 6146 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000439151.7:c.5950C>T" ], "proteinEffect": { "hgvs": "ENSP00000395929.2:p.Arg1984Ter", "hgvsWellDefined": "ENSP00000395929.2:p.Arg1984_Lys2696delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000439151.7:c.5950C>T" }, "RefSeq": { "hgvs": "NM_022455.5:c.5950C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395929.2:p.Arg1984Ter" }, "RefSeq": { "hgvs": "NP_071900.2:p.Arg1984Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 5244, "referenceAllele": "C", "start": 5243 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000347982.8:c.5143C>T" ], "proteinEffect": { "hgvs": "ENSP00000343209.4:p.Arg1715Ter", "hgvsWellDefined": "ENSP00000343209.4:p.Arg1715_Lys2427delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262425" }, { "coordinates": [ { "allele": "T", "end": 5303, "referenceAllele": "C", "start": 5302 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000354179.8:c.5143C>T" ], "proteinEffect": { "hgvs": "ENSP00000346111.4:p.Arg1715Ter", "hgvsWellDefined": "ENSP00000346111.4:p.Arg1715_Lys2427delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263032" }, { "coordinates": [ { "allele": "T", "end": 5995, "referenceAllele": "C", "start": 5994 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000439151.6:c.5950C>T" ], "proteinEffect": { "hgvs": "ENSP00000395929.2:p.Arg1984Ter", "hgvsWellDefined": "ENSP00000395929.2:p.Arg1984_Lys2696delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS295287" }, { "@id": "http://reg.genome.network/allele/PA319685", "coordinates": [ { "allele": "T", "end": 6088, "referenceAllele": "C", "start": 6087 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_022455.4:c.5950C>T", "LRG_512t1:c.5950C>T" ], "proteinEffect": { "hgvs": "NP_071900.2:p.Arg1984Ter", "hgvsWellDefined": "NP_071900.2:p.Arg1984_Lys2696delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037320" }, { "coordinates": [ { "allele": "T", "end": 5303, "referenceAllele": "C", "start": 5302 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_172349.2:c.5143C>T" ], "proteinEffect": { "hgvs": "NP_758859.1:p.Arg1715Ter", "hgvsWellDefined": "NP_758859.1:p.Arg1715_Lys2427delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042727" }, { "coordinates": [ { "allele": "T", "end": 6097, "referenceAllele": "C", "start": 6096 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265959.1:c.5950C>T" ], "proteinEffect": { "hgvs": "XP_005266016.1:p.Arg1984Ter", "hgvsWellDefined": "XP_005266016.1:p.Arg1984_Lys2696delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064873" }, { "coordinates": [ { "allele": "T", "end": 5244, "referenceAllele": "C", "start": 5243 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265960.1:c.5143C>T" ], "proteinEffect": { "hgvs": "XP_005266017.1:p.Arg1715Ter", "hgvsWellDefined": "XP_005266017.1:p.Arg1715_Lys2427delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064874" }, { "coordinates": [ { "allele": "T", "end": 5262, "referenceAllele": "C", "start": 5261 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265961.1:c.5143C>T" ], "proteinEffect": { "hgvs": "XP_005266018.1:p.Arg1715Ter", "hgvsWellDefined": "XP_005266018.1:p.Arg1715_Lys2427delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064875" }, { "coordinates": [ { "allele": "T", "end": 1604, "referenceAllele": "C", "start": 1603 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265962.3:c.1444C>T" ], "proteinEffect": { "hgvs": "XP_005266019.1:p.Arg482Ter", "hgvsWellDefined": "XP_005266019.1:p.Arg482_Lys1194delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064876" }, { "coordinates": [ { "allele": "T", "end": 6019, "referenceAllele": "C", "start": 6018 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534610.1:c.5950C>T" ], "proteinEffect": { "hgvs": "XP_011532912.1:p.Arg1984Ter", "hgvsWellDefined": "XP_011532912.1:p.Arg1984_Lys2696delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101622" }, { "coordinates": [ { "allele": "T", "end": 5990, "referenceAllele": "C", "start": 5989 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534611.1:c.5950C>T" ], "proteinEffect": { "hgvs": "XP_011532913.1:p.Arg1984Ter", "hgvsWellDefined": "XP_011532913.1:p.Arg1984_Lys2696delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101623" }, { "coordinates": [ { "allele": "T", "end": 5733, "referenceAllele": "C", "start": 5732 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534612.1:c.5530C>T" ], "proteinEffect": { "hgvs": "XP_011532914.1:p.Arg1844Ter", "hgvsWellDefined": "XP_011532914.1:p.Arg1844_Lys2556delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101624" }, { "coordinates": [ { "allele": "T", "end": 5085, "referenceAllele": "C", "start": 5084 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534613.1:c.4894C>T" ], "proteinEffect": { "hgvs": "XP_011532915.1:p.Arg1632Ter", "hgvsWellDefined": "XP_011532915.1:p.Arg1632_Lys2344delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101625" }, { "coordinates": [ { "allele": "T", "end": 1847, "referenceAllele": "C", "start": 1846 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534617.1:c.1684C>T" ], "proteinEffect": { "hgvs": "XP_011532919.1:p.Arg562Ter", "hgvsWellDefined": "XP_011532919.1:p.Arg562_Lys1274delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101629" }, { "coordinates": [ { "allele": "T", "end": 5244, "referenceAllele": "C", "start": 5243 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_001365684.1:c.5143C>T" ], "proteinEffect": { "hgvs": "NP_001352613.1:p.Arg1715Ter", "hgvsWellDefined": "NP_001352613.1:p.Arg1715_Lys2427delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524206" }, { "coordinates": [ { "allele": "T", "end": 6097, "referenceAllele": "C", "start": 6096 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446150.1:c.5950C>T" ], "proteinEffect": { "hgvs": "XP_024301918.1:p.Arg1984Ter", "hgvsWellDefined": "XP_024301918.1:p.Arg1984_Lys2696delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579825" }, { "coordinates": [ { "allele": "T", "end": 6072, "referenceAllele": "C", "start": 6071 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446151.1:c.5950C>T" ], "proteinEffect": { "hgvs": "XP_024301919.1:p.Arg1984Ter", "hgvsWellDefined": "XP_024301919.1:p.Arg1984_Lys2696delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579826" }, { "coordinates": [ { "allele": "T", "end": 6026, "referenceAllele": "C", "start": 6025 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446152.1:c.5950C>T" ], "proteinEffect": { "hgvs": "XP_024301920.1:p.Arg1984Ter", "hgvsWellDefined": "XP_024301920.1:p.Arg1984_Lys2696delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579827" }, { "coordinates": [ { "allele": "T", "end": 6721, "referenceAllele": "C", "start": 6720 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446153.1:c.5950C>T" ], "proteinEffect": { "hgvs": "XP_024301921.1:p.Arg1984Ter", "hgvsWellDefined": "XP_024301921.1:p.Arg1984_Lys2696delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579828" }, { "coordinates": [ { "allele": "T", "end": 5738, "referenceAllele": "C", "start": 5737 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446154.1:c.5530C>T" ], "proteinEffect": { "hgvs": "XP_024301922.1:p.Arg1844Ter", "hgvsWellDefined": "XP_024301922.1:p.Arg1844_Lys2556delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579829" }, { "coordinates": [ { "allele": "T", "end": 5436, "referenceAllele": "C", "start": 5435 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446155.1:c.5143C>T" ], "proteinEffect": { "hgvs": "XP_024301923.1:p.Arg1715Ter", "hgvsWellDefined": "XP_024301923.1:p.Arg1715_Lys2427delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579830" }, { "coordinates": [ { "allele": "T", "end": 5283, "referenceAllele": "C", "start": 5282 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446156.1:c.5143C>T" ], "proteinEffect": { "hgvs": "XP_024301924.1:p.Arg1715Ter", "hgvsWellDefined": "XP_024301924.1:p.Arg1715_Lys2427delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579831" }, { "coordinates": [ { "allele": "T", "end": 5327, "referenceAllele": "C", "start": 5326 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446158.1:c.5143C>T" ], "proteinEffect": { "hgvs": "XP_024301926.1:p.Arg1715Ter", "hgvsWellDefined": "XP_024301926.1:p.Arg1715_Lys2427delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579832" }, { "coordinates": [ { "allele": "T", "end": 5121, "referenceAllele": "C", "start": 5120 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446159.1:c.4894C>T" ], "proteinEffect": { "hgvs": "XP_024301927.1:p.Arg1632Ter", "hgvsWellDefined": "XP_024301927.1:p.Arg1632_Lys2344delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579833" }, { "coordinates": [ { "allele": "T", "end": 4798, "referenceAllele": "C", "start": 4797 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446162.1:c.1684C>T" ], "proteinEffect": { "hgvs": "XP_024301930.1:p.Arg562Ter", "hgvsWellDefined": "XP_024301930.1:p.Arg562_Lys1274delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579836" }, { "coordinates": [ { "allele": "T", "end": 1608, "referenceAllele": "C", "start": 1607 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446163.1:c.1444C>T" ], "proteinEffect": { "hgvs": "XP_024301931.1:p.Arg482Ter", "hgvsWellDefined": "XP_024301931.1:p.Arg482_Lys1194delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579837" }, { "@id": "http://reg.genome.network/allele/PA319685", "coordinates": [ { "allele": "T", "end": 6147, "referenceAllele": "C", "start": 6146 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_022455.5:c.5950C>T" ], "proteinEffect": { "hgvs": "NP_071900.2:p.Arg1984Ter", "hgvsWellDefined": "NP_071900.2:p.Arg1984_Lys2696delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728582", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000439151.7:c.5950C>T" }, "RefSeq": { "hgvs": "NM_022455.5:c.5950C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395929.2:p.Arg1984Ter" }, "RefSeq": { "hgvs": "NP_071900.2:p.Arg1984Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 5367, "referenceAllele": "C", "start": 5366 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_172349.3:c.5143C>T" ], "proteinEffect": { "hgvs": "NP_758859.1:p.Arg1715Ter", "hgvsWellDefined": "NP_758859.1:p.Arg1715_Lys2427delinsIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729552" } ], "type": "nucleotide" }