From a324bd6639eef5416ead19b84ac7fbaab3eb301e Mon Sep 17 00:00:00 2001 From: gaberbz Date: Mon, 29 Jun 2026 14:38:50 -0600 Subject: [PATCH 1/3] re-add changes on top of new main --- data/STRchive-loci.json | 22 ++++++++++----------- site/public/images/team/gabriel-zinser.jpg | Bin 154479 -> 0 bytes site/public/images/team/gabriel_zinser.jpg | Bin 0 -> 81828 bytes 3 files changed, 11 insertions(+), 11 deletions(-) delete mode 100644 site/public/images/team/gabriel-zinser.jpg create mode 100644 site/public/images/team/gabriel_zinser.jpg diff --git a/data/STRchive-loci.json b/data/STRchive-loci.json index 3cd1c9aa..a35e3e77 100644 --- a/data/STRchive-loci.json +++ b/data/STRchive-loci.json @@ -1443,12 +1443,12 @@ "orphanet": [], "gnomad": ["CSNK1E"], "stripy": [], - "tr_atlas": ["TR344468"], + "tr_atlas": ["TR344466"], "webstr_hg38": [], "webstr_hg19": [], "locus_tags": [], "disease_tags": ["epilepsy"], - "references": ["pmid:40751262", "pmid:39107278", "pmid: 39107278"], + "references": ["pmid:40751262", "pmid:39107278"], "additional_literature": [] }, { @@ -2099,7 +2099,7 @@ "typ_age_onset_min": 0.0, "typ_age_onset_max": 0.0, "details": "14 repeats appears highly constrained in humans: homozygous expansions from 14 polyalanines to 19 leads to disease, which can be limited to isolated palpebral defects [@pmid:15591279]. Heterozygous expansions to 24 polyalanines also lead to disease [@pmid:15591279]. Locus start can differ between catalogs, which can affect genotyping.", - "detection": null, + "detection": "These expansions are generally within the standard short-read sequencing flanking region and show up with dedicated STR callers, though allelic dropout has been reported [@pmid:42100494]. PCR based assays with subsequent capillary have accurately detected this expansion when used with a GC-enhancing co solvent [@pmid:31077882].", "mechanism": "GoF/LoF", "mechanism_detail": "Polyalanine expansion leads to haploinsufficiency, likely due to decreased protein availability due to mislocalization following nuclear inclusion [@genereviews:NBK1441; @pmid:15591279]", "year": "2003 [@pmid:12529855]", @@ -3082,7 +3082,7 @@ "mechanism_detail": "Toxic protein product accumulates in kidneys [@genereviews:NBK153723]", "year": "2013 [@pmid:23396133]", "location_in_gene": "Coding Exon 2", - "gene_strand": "+", + "gene_strand": "-", "reference_motif_reference_orientation": ["GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG"], "pathogenic_motif_reference_orientation": ["ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG"], "benign_motif_reference_orientation": ["ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG"], @@ -3099,7 +3099,7 @@ "intermediate_max": null, "pathogenic_min": null, "pathogenic_max": null, - "motif_len": 1, + "motif_len": 61, "ref_copies": null, "novel": "ref", "gard": ["7002"], @@ -3985,7 +3985,7 @@ "details": "TTTTA repeat expansions and TTTCA repeat insertions in intron 4 of the RAI1 gene that co-segregated with disease status in a single large family from Mali [@pmid:37994247]. Ten affected individuals were studied. Both TTTTA and TTTCA motifs were observed in all eight of the affected individuals with spanning reads, with allele sizes in the range: (TTTTA)278-773(TTTCA)9-334. A single individual was observed with additional motifs and interruptions in one allele with the structure: (TTTTA)exp(GGGGT)ins(GGGAT)ins(TTTCA)ins. TTTCA repeats were absent in 200 Malian controls, who had alleles in the range: (TTTCA)16-20. Reviewed in [@pmid:38876750]. It is uncertain if expansions at both the TTTTA and TTTCA motifs, or only the TTTCA motif are required for pathogenicity. The pathogenic range in STRchive is for the TTTCA motif only. Note: locus is partially deleted in T2T reference genome.", "detection": null, "mechanism": "Unknown", - "mechanism_detail": "Expression isn't changed [@pmid:7994247].", + "mechanism_detail": "Expression isn't changed [@pmid:37994247].", "year": "2024 [@pmid:37994247]", "location_in_gene": "Intron 4", "gene_strand": "+", @@ -4032,7 +4032,7 @@ "webstr_hg19": [], "locus_tags": ["motif_affects_onset"], "disease_tags": ["familial_adult_myoclonic_epilepsy"], - "references": ["pmid:7994247", "pmid:37994247", "pmid:38876750"], + "references": ["pmid:37994247", "pmid:38876750"], "additional_literature": ["pmid:41874439", "pmid:41219789", "pmid:40541176", "pmid:38871700", "pmid:37339841", "pmid:34565721", "pmid:33186760", "pmid:32283749", "pmid:32281848", "pmid:30891880", "pmid:30622881", "pmid:25663198", "pmid:23897707", "pmid:17457615", "pmid:15148657", "pmid:11594924", "pmid:10915763", "pmid:8817239"] }, { @@ -4280,7 +4280,7 @@ "age_onset_max": 0.0, "typ_age_onset_min": null, "typ_age_onset_max": null, - "details": "Benign range (4-17 repeats) established from gnomAD and primary literature; pathogenic ranges (20-27) reflect two clinical cases to date [@gnomad:RUNX2; @pmid:26220009]. Intermediate alleles (i.e, 18 repeats; 19 not reported) appear to not be associated with disease [@pmid:20560987; @pmid:26220009]. The gene RUNX2 was previously called CBFA1, as reflected in some of the literature [@pmid:9182765].", + "details": "Benign range (4-17 repeats) established from gnomAD and primary literature; pathogenic ranges (20-27) reflect two clinical cases to date [@gnomad:RUNX2; @pmid:26220009]. Intermediate alleles (i.e, 18 repeats; 19 not reported) appear to not be associated with disease [@pmid:20560987; @pmid:26220009]. The gene RUNX2 was previously called CBFA1, as reflected in some of the literature [@pmid:9182765]. Pathogenic range alleles up to 23 repeats have been detected in asymptomatic individuals, indicating potential incomplete penetrance [@pmid:40585427].", "detection": null, "mechanism": "LoF", "mechanism_detail": "Polyalanine expansion leading to haploinsufficiency [@pmid:26220009].", @@ -4742,7 +4742,7 @@ "webstr_hg19": [], "locus_tags": ["somatic_instability", "anticipation", "paternal_expansion", "length_affects_onset", "length_affects_penetrance", "length_affects_phenotype", "motif_affects_instability"], "disease_tags": ["spinocerebellar_ataxia"], - "references": ["omim:607136,@pmid:35053321,@genereviews:NBK1438,@pmid:12805114,@genereviews:NBK1438", "pmid:35245110,@genereviews:NBK1438,@pmid:29100084,@pmid:10484774,@mondo:0011781"], + "references": ["omim:607136", "pmid:35053321", "genereviews:NBK1438", "pmid:12805114", "pmid:35245110", "pmid:29100084", "pmid:10484774", "mondo:0011781"], "additional_literature": ["pmid:42196324", "pmid:42038259", "pmid:41843312", "pmid:41762523", "pmid:41612618", "pmid:41009775", "pmid:40488180", "pmid:40478462", "pmid:39950762", "pmid:39820777", "pmid:39680235", "pmid:39456985", "pmid:39125760", "pmid:38973070", "pmid:38961870", "pmid:38494459", "pmid:37855597", "pmid:37632648", "pmid:37146135", "pmid:36599645", "pmid:36476347", "pmid:36422518", "pmid:35926480", "pmid:35868859", "pmid:35493319", "pmid:35482253", "pmid:35275350", "pmid:35182509", "pmid:34906452", "pmid:34600502", "pmid:34565721", "pmid:34256333", "pmid:34235484", "pmid:33502644", "pmid:33377399", "pmid:32675418", "pmid:32533168", "pmid:32386547", "pmid:31940111", "pmid:31919387", "pmid:31522753", "pmid:30920184", "pmid:30891880", "pmid:30617627", "pmid:30615214", "pmid:30532692", "pmid:30314815", "pmid:30120431", "pmid:29801887", "pmid:29564144", "pmid:29249939", "pmid:29057148", "pmid:28821675", "pmid:28585930", "pmid:28444220", "pmid:28153533", "pmid:27865706", "pmid:27400454", "pmid:27172828", "pmid:26476771", "pmid:26387956", "pmid:26374734", "pmid:26267067", "pmid:26077168", "pmid:25672822", "pmid:24972706", "pmid:24677642", "pmid:24534762", "pmid:23665119", "pmid:23475385", "pmid:21710129", "pmid:21562248", "pmid:21437269", "pmid:20587494", "pmid:20199210", "pmid:20004653", "pmid:19595623", "pmid:19566714", "pmid:18218637", "pmid:18043721", "pmid:17961920", "pmid:17420317", "pmid:17273961", "pmid:17033685", "pmid:16858508", "pmid:16626296", "pmid:16223509", "pmid:16054804", "pmid:15850778", "pmid:15533937", "pmid:15503103", "pmid:15381080", "pmid:15365789", "pmid:15225551", "pmid:15193429", "pmid:14985389", "pmid:14967767", "pmid:12953269", "pmid:12891385", "pmid:12853230", "pmid:12758065", "pmid:11939898", "pmid:11571212", "pmid:11313753", "pmid:9399691", "pmid:8886170", "pmid:7892196", "pmid:8503450"] }, { @@ -4837,7 +4837,7 @@ "typ_age_onset_min": 40.0, "typ_age_onset_max": 59.0, "details": "Most controls have <40 repeats while majority of patients have >50 repeats; penetrance is <100%, as unaffected individuals have been documented with >80 repeats and alleles of affected individuals range from 12-2600 [@genereviews:NBK535148; @pmid:25168903]. Expansions are causative in approximately 70% of disease cases [@genereviews:NBK535148].", - "detection": null, + "detection": "Short-read sequencing methods are reportedly unable to detect these expansions due to repeat size and GC richness [@pmid:32735996]. While RP-PCR and Small pool PCR can detect expansions, sequence level resolution generally required long-read sequencing [@pmid:32735996].", "mechanism": "GoF", "mechanism_detail": "Sequestration of MBNL1 in RNA foci, similar to the mechanism underlying myotonic dystrophy-1 [@pmid:25593321]. Variation in RAN translation [@pmid:38467784].", "year": "2012 [@pmid:23185296]", @@ -5003,7 +5003,7 @@ "intermediate_max": null, "pathogenic_min": 1100, "pathogenic_max": 1100, - "motif_len": 3, + "motif_len": 5, "ref_copies": 18.8, "novel": "novel", "gard": ["16758"], diff --git a/site/public/images/team/gabriel-zinser.jpg b/site/public/images/team/gabriel-zinser.jpg deleted file mode 100644 index b4615437bcbd8b7705a063630f85170051e156e1..0000000000000000000000000000000000000000 GIT binary patch literal 0 HcmV?d00001 literal 154479 zcmeI3Ymk<89fp7Z=RNE$Zu`2NRBX0kg+NAWS@2wIpm+?(RmsD&6PhII;6NH^BO^+p z)~sTt=_IYkv>F;r)0{*FO~r{3K@d_DPpM4|q?xDT>E6Tp-hOoYe7zj@b!YFLeQvJb z{pA|-m-6kgcIv`8vm>TWi*XTAALTSS3VN6HE7FK4^}Uannf9%{?@D6_z9x&vhWP83 z&WYl{*Xw)szS04`f7L$LT^~`W&lKC*+b1kb{qIv&h@R@_C$zQoB!9=Atoj`r+jFi0PGxuE7y=hea&fJED8vh~+I2 zD@I1F8Wpi_OvE-du;ajp-E9#~laxP1`NNg}hVtK3{wU>-QT}-4zoq;PRr%AD zKU4WGj`HU!f4=f_m7k~lManNw{!-;HQ~q-0uT=gj<*!lxXUbov{0++Ar2H+) 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zNxO0_tx)>R(*Bx(NpU1Wit7AL*BwP#EUeZGW^&9~bfV*s$;aD`a3GINNG%#qL^35(xbu5~tprTSf{huFKo?q6Cs>7;GeDZ;q9Y zeWY-M!npffLZDjSmUIV_xIUrt$ThEC$So~Pk*M<9-l^Yc_CJ5{%#sEQ_D9YH^&oHc z6yRm6mQu(WiQBaXRBi|j?L;rDo=yh+DC2Nj3I{G!Xv6r14wv@*sBjNbPuBv8u^B43 PZMLCeV?EDYngjpYj~D&f literal 0 HcmV?d00001 From 6474bff842b3b2265228c0c5032dbec69f118b2b Mon Sep 17 00:00:00 2001 From: gaberbz <182678422+gaberbz@users.noreply.github.com> Date: Mon, 29 Jun 2026 20:47:16 +0000 Subject: [PATCH 2/3] Update data --- data/STRchive-citations.json | 18 ++++++------- data/STRchive-loci.json | 4 +-- .../STRchive-disease-loci.T2T-chm13.TRGT.bed | 2 +- ...STRchive-disease-loci.T2T-chm13.atarva.bed | 2 +- ...chive-disease-loci.T2T-chm13.atarva.bed.gz | Bin 1835 -> 1836 bytes ...e-disease-loci.T2T-chm13.atarva.bed.gz.tbi | Bin 4452 -> 4453 bytes ...TRchive-disease-loci.T2T-chm13.general.bed | 2 +- ...STRchive-disease-loci.T2T-chm13.longTR.bed | 2 +- .../STRchive-disease-loci.hg19.TRGT.bed | 2 +- .../STRchive-disease-loci.hg19.atarva.bed | 2 +- .../STRchive-disease-loci.hg19.atarva.bed.gz | Bin 1852 -> 1851 bytes ...Rchive-disease-loci.hg19.atarva.bed.gz.tbi | Bin 4461 -> 4461 bytes .../STRchive-disease-loci.hg19.general.bed | 2 +- .../STRchive-disease-loci.hg19.longTR.bed | 2 +- .../STRchive-disease-loci.hg38.TRGT.bed | 2 +- .../STRchive-disease-loci.hg38.atarva.bed | 2 +- .../STRchive-disease-loci.hg38.atarva.bed.gz | Bin 1837 -> 1840 bytes ...Rchive-disease-loci.hg38.atarva.bed.gz.tbi | Bin 4418 -> 4417 bytes .../STRchive-disease-loci.hg38.general.bed | 2 +- .../STRchive-disease-loci.hg38.longTR.bed | 2 +- data/plots/path-size.json | 24 +++++++++--------- data/ref-alleles/ref-alleles.T2T-chm13.txt | 4 +-- data/ref-alleles/ref-alleles.hg19.txt | 4 +-- data/ref-alleles/ref-alleles.hg38.txt | 6 ++--- 24 files changed, 42 insertions(+), 42 deletions(-) diff --git a/data/STRchive-citations.json b/data/STRchive-citations.json index 64e04bfd..cc5bf627 100644 --- a/data/STRchive-citations.json +++ b/data/STRchive-citations.json @@ -165894,10 +165894,10 @@ "note": "WARNING: Manubot does not support url:https://omim.org/entry/300123. Skipping" }, { - "id": "omim:607136,@pmid:35053321,@genereviews:NBK1438,@pmid:12805114,@genereviews:NBK1438", + "id": "omim:607136", "manubot_success": false, - "link": "https://omim.org/entry/607136,@pmid:35053321,@genereviews:NBK1438,@pmid:12805114,@genereviews:NBK1438", - "note": "WARNING: Manubot does not support url:https://omim.org/entry/607136,@pmid:35053321,@genereviews:NBK1438,@pmid:12805114,@genereviews:NBK1438. Skipping" + "link": "https://omim.org/entry/607136", + "note": "WARNING: Manubot does not support url:https://omim.org/entry/607136. Skipping" }, { "id": "omim:187500", @@ -165965,6 +165965,12 @@ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1229", "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1229']' timed out after 3 seconds" }, +{ + "id": "genereviews:NBK1438", + "manubot_success": false, + "link": "https://www.ncbi.nlm.nih.gov/books/NBK1438", + "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1438']' timed out after 3 seconds" +}, { "id": "isbn:978-3-031-66932-3", "manubot_success": false, @@ -165982,12 +165988,6 @@ "link": "https://pubmed.ncbi.nlm.nih.gov/29939637", "note": "WARNING: Couldn't parse Manubot response: list index out of range" }, -{ - "id": "pmid:35245110,@genereviews:NBK1438,@pmid:29100084,@pmid:10484774,@mondo:0011781", - "manubot_success": false, - "link": "https://pubmed.ncbi.nlm.nih.gov/35245110,@genereviews:NBK1438,@pmid:29100084,@pmid:10484774,@mondo:0011781", - "note": "WARNING: Couldn't parse Manubot response: list index out of range" -}, { "id": "pmid:39666847", "manubot_success": false, diff --git a/data/STRchive-loci.json b/data/STRchive-loci.json index a35e3e77..72ca9ee3 100644 --- a/data/STRchive-loci.json +++ b/data/STRchive-loci.json @@ -3084,8 +3084,8 @@ "location_in_gene": "Coding Exon 2", "gene_strand": "-", "reference_motif_reference_orientation": ["GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG"], - "pathogenic_motif_reference_orientation": ["ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG"], - "benign_motif_reference_orientation": ["ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG"], + "pathogenic_motif_reference_orientation": ["CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT"], + "benign_motif_reference_orientation": ["CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT"], "unknown_motif_reference_orientation": [], "interruption_reference_orientation": [], "pathogenic_motif_gene_orientation": ["ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG"], diff --git a/data/catalogs/STRchive-disease-loci.T2T-chm13.TRGT.bed b/data/catalogs/STRchive-disease-loci.T2T-chm13.TRGT.bed index e87fc27b..becdb088 100644 --- a/data/catalogs/STRchive-disease-loci.T2T-chm13.TRGT.bed +++ b/data/catalogs/STRchive-disease-loci.T2T-chm13.TRGT.bed @@ -2,7 +2,7 @@ chr1 870158 870178 ID=HMNR7_VWA1;MOTIFS=AGCGGCGCGG,GGCGCGGAGC;STRUC= chr1 57245935 57245973 ID=SCA37_DAB1;MOTIFS=AAAAT,GAAAT,TGAAA;STRUC= chr1 94266544 94266567 ID=OPDM5_ABCD3;MOTIFS=CCG;STRUC= chr1 148519695 148519738 ID=NIID_NOTCH2NLC;MOTIFS=CGG;STRUC= -chr1 154328121 154330802 ID=ADTKD_MUC1;MOTIFS=ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG;STRUC= +chr1 154328121 154330802 ID=ADTKD_MUC1;MOTIFS=CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT;STRUC= chr1 155728131 155728159 ID=NME_NAXE;MOTIFS=CCGGG,GGGCC;STRUC= chr2 96703674 96703732 ID=FAME2_STARD7;MOTIFS=AAATG,AAAAT,TGAAA;STRUC= chr2 100563685 100563738 ID=FRA2A_AFF3;MOTIFS=CCG;STRUC= diff --git a/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed b/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed index f9028103..29ab82b3 100644 --- a/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed +++ b/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed @@ -3,7 +3,7 @@ chr1 870158 870178 AGCGGCGCGG 10 HMNR7_VWA1 chr1 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zO(;|N&tHGK?#od~dC3eaNEiZyaT{V8AIrx&2p>WNi*j_UjcabRP?Pu8SbtDBg3x7; z%iFi>^;*_#n2-9RHslT0*(y}aJ&s*d&1w3{YsyoUW0~|Q!F(US`;yM}!1I85m~_@Q zkV9P?qjk%BiQD6U#qz#efsc_qU(aX!&{%m-vN2b1T9#W)MCYLl^Y9|ccMS|e20WCH zetUp5!5P%90U32n-qRdQ+`1IJcWAhQ?4)t3QO3e!SWAv0HWAr)XPwiX{PR%rEv9_l zZVx%w@F9CIYmg7pzPI>syAEZ)KMqk_bXJ<&$l2%Aee7i!oHu-W&KeA=lcapleB^PK Qe1v}cFGBID1d|L0AjABd8~^|S diff --git a/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed.gz.tbi b/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed.gz.tbi index e449153c3e15288e9922a3a24323df71a6461139..48592cf562a4a7e94e39336bbe1b0026a165203b 100644 GIT binary patch delta 223 zcmaE&^i*lXPJR~|#<#Z@`m!(zv_7nN6!3WWO+{mps0f2)r!vQ`1q{0uFg>Z%kzKIj z!7B@QMi$oyn@0-wXZY_q^TgC3bbYsy=Oh)+Ye|y>nRM#wZ)Z=sBiz6G_iCwCXCp%M zlSB9Vn}(PthuZdpmRej5nA?9`j`Y1+7J2ql_vKluj;ETQ&cALNx;rq`v~N|| z>se{GWs6t6oA)ZAZ27UktDg4HpKe+fdH?K+RsC1L>v@8#LPo!zOapSC?En7yJBTrP Y37;_g`(K=sU+tPX*^p6W@-=~e05#EcVgLXD diff --git a/data/catalogs/STRchive-disease-loci.T2T-chm13.general.bed b/data/catalogs/STRchive-disease-loci.T2T-chm13.general.bed index aebd3435..763ce512 100644 --- a/data/catalogs/STRchive-disease-loci.T2T-chm13.general.bed +++ b/data/catalogs/STRchive-disease-loci.T2T-chm13.general.bed @@ -3,7 +3,7 @@ chr1 870158 870178 HMNR7_VWA1 VWA1 GGCGCGGAGC AGCGGCGCGG 1 AR Neuronopathy, dist chr1 57245935 57245973 SCA37_DAB1 DAB1 AAAAT TGAAA 31 AD Spinocerebellar ataxia type 37 chr1 94266544 94266567 OPDM5_ABCD3 ABCD3 CCG CCG 118 AD Oculopharyngodistal myopathy type 5 chr1 148519695 148519738 NIID_NOTCH2NLC NOTCH2NLC CGG CGG 66 AD Neuronal intranuclear inclusion disease, Alzheimer disease and parkinsonism phenotype, Oculopharyngodistal myopathy (OPDM) type 3, hereditary essential tremor type 6 -chr1 154328121 154330802 ADTKD_MUC1 MUC1 GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG None AD Autosomal dominant tubulointerstitial kidney disease +chr1 154328121 154330802 ADTKD_MUC1 MUC1 GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT None AD Autosomal dominant tubulointerstitial kidney disease chr1 155728131 155728159 NME_NAXE NAXE GGGCC CCGGG 200 AR NAXE-related mitochondrial encephalopathy chr2 96703674 96703732 FAME2_STARD7 STARD7 AAAAT TGAAA 274 AD Familial adult myoclonic epilepsy 2 chr2 100563685 100563738 FRA2A_AFF3 AFF3 CCG CCG 300 AD Intellectual disability associated with fragile site FRA2A diff --git a/data/catalogs/STRchive-disease-loci.T2T-chm13.longTR.bed b/data/catalogs/STRchive-disease-loci.T2T-chm13.longTR.bed index 8cd57661..17ac94fb 100644 --- a/data/catalogs/STRchive-disease-loci.T2T-chm13.longTR.bed +++ b/data/catalogs/STRchive-disease-loci.T2T-chm13.longTR.bed @@ -2,7 +2,7 @@ chr1 870159 870178 AGCGGCGCGG,GGCGCGGAGC HMNR7_VWA1 chr1 57245936 57245973 TGAAA,AAAAT SCA37_DAB1 chr1 94266545 94266567 CCG OPDM5_ABCD3 chr1 148519696 148519738 CGG NIID_NOTCH2NLC -chr1 154328122 154330802 ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG,ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG ADTKD_MUC1 +chr1 154328122 154330802 CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT,CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG ADTKD_MUC1 chr1 155728132 155728159 CCGGG,GGGCC NME_NAXE chr2 96703675 96703732 TGAAA,AAAAT FAME2_STARD7 chr2 100563686 100563738 CCG FRA2A_AFF3 diff --git a/data/catalogs/STRchive-disease-loci.hg19.TRGT.bed b/data/catalogs/STRchive-disease-loci.hg19.TRGT.bed index cec298cf..1913b77c 100644 --- a/data/catalogs/STRchive-disease-loci.hg19.TRGT.bed +++ b/data/catalogs/STRchive-disease-loci.hg19.TRGT.bed @@ -2,7 +2,7 @@ chr1 1371178 1371198 ID=HMNR7_VWA1;MOTIFS=AGCGGCGCGG,GGCGCGGAGC;STRUC= chr1 57832715 57832793 ID=SCA37_DAB1;MOTIFS=AAAAT,GAAAT,TGAAA;STRUC= chr1 94883977 94884000 ID=OPDM5_ABCD3;MOTIFS=CCG;STRUC= chr1 145209323 145209354 ID=NIID_NOTCH2NLC;MOTIFS=CGG;STRUC= -chr1 155160981 155162030 ID=ADTKD_MUC1;MOTIFS=ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG;STRUC= +chr1 155160981 155162030 ID=ADTKD_MUC1;MOTIFS=CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT;STRUC= chr1 156561557 156561575 ID=NME_NAXE;MOTIFS=CCGGG,GGGCC;STRUC= chr2 96862804 96862862 ID=FAME2_STARD7;MOTIFS=AAATG,AAAAT,TGAAA;STRUC= chr2 100721260 100721286 ID=FRA2A_AFF3;MOTIFS=CCG;STRUC= diff --git a/data/catalogs/STRchive-disease-loci.hg19.atarva.bed b/data/catalogs/STRchive-disease-loci.hg19.atarva.bed index 26e5c179..972a7eb0 100644 --- a/data/catalogs/STRchive-disease-loci.hg19.atarva.bed +++ b/data/catalogs/STRchive-disease-loci.hg19.atarva.bed @@ -3,7 +3,7 @@ chr1 1371178 1371198 AGCGGCGCGG 10 HMNR7_VWA1 chr1 57832750 57832793 GAAAT 5 SCA37_DAB1 chr1 94883977 94884000 CCG 3 OPDM5_ABCD3 chr1 145209323 145209354 CGG 3 NIID_NOTCH2NLC -chr1 155160981 155162030 ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG 61 ADTKD_MUC1 +chr1 155160981 155162030 CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT 61 ADTKD_MUC1 chr1 156561557 156561575 CCGGG 5 NME_NAXE chr2 96862804 96862807 AAATG 5 FAME2_STARD7 chr2 100721260 100721286 CCG 3 FRA2A_AFF3 diff --git a/data/catalogs/STRchive-disease-loci.hg19.atarva.bed.gz b/data/catalogs/STRchive-disease-loci.hg19.atarva.bed.gz index a98b1bf283ff5efa91c1f3a6ff731ccc67edb69a..cddeea6d0ddd80d4767cdd2a1046a1b2a767e3a3 100644 GIT binary patch delta 1842 zcmV-22hI4r4!aJ2ABzYC000000RIL6LPG)o9tVY&%dX?N5kS{9|8fCV70Du(G-b)2 zwq!-(?YMhG3A>@l$9A)LDDwR7x$MJi~e6vQ|I!+jlQlfx+v 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zl%=E0*!ED5euvVq5cS6Y%P%DY$QcY)F$&#ctFSNky_IpZjm~PKny@Xm)TjXoyAUGX;`L`_D}11&*S}Zqi#CZtQ4vz z{g@+l{&o&&ueJtOVy)sB&+Fy>X!|J*Xcbu&%Lj@2;awzeVV%xneHjC&*x0h^ zX+S@&cbw<2#mi{BtSuQwUUg!6ONB^zU02##MNCZ=4t0?$8K$>nn8z@q=jz&$SjmZU z4IGhp5MlG^R!{Fw37ygkL_8EL*71@2la5GoG9;gBSd9h z;~yobHckadh<({^R$zm@`7h&CGGIXdxL&VsuGYGPQ$KUxRHM0rGe1$AX^c09JU8Id zmdA!#LjJyt(vq+PRK}`$VroS6z6fEyZ7Wh&(X)6o_#}Z;&P~04`!Vlf9-8fe#0YCg z4UE=s98_RTL)}nD|DQkqknT&_MWV9}ND%};7`Gwh@v*$-fqw}NNR`7|eYxf~3z?0v z-cut{d>_8K z9MAR0^8hl6v8-f&4IK48TDP?4usz-^vE6cbq?+^fe8!i?$cn7!20{cW)s5&p<<)MFy4NyjTm!Ptkz4B7t1kK1*~`~7h$h}wG3rkvR-Svrm&<73a` hyd6*1VjPt|YDB`X{mA27_9OJme*ranJKvKV2O!Wkl{NqX diff --git a/data/catalogs/STRchive-disease-loci.hg19.atarva.bed.gz.tbi b/data/catalogs/STRchive-disease-loci.hg19.atarva.bed.gz.tbi index c3f4aa33aae180c25c2f8dfe65c672dd5cd69d86..65e7cc06d0b2fe41f87e50c9e6531c0a2598d31b 100644 GIT binary patch delta 216 zcmaE>^j2xZ6Mh{B(@b#%2iqNNXO&8O8dP{Lgii1YILWi7K`Dl16Q}0+^m#Rwmi5eY zR&9=)IC&$ZO8pbXYWGR?M<&1ewx{h?W?1O%$WYt(>jAmPS5--`&f2(UVN`$UR>{?` z(gK~g%B=SMlNfqf<$v;;RmVelC)c0tU;QrrRfds2km2|H=e_k=GrrvK3;kLZcsQm1 zX+-Gs)9+`gcuqn^MfLAIfI@P6;?4J{Oy0yOAzWYXJ4xmHyEc%z{}bm=JSChk*^p6W I@+X060M6!R_5c6? delta 200 zcmV;(05|{bBJCou#?dfV^!TO zYN(cDHHkm0YMA7Ij8*lxs$uf4`Ek|#OC3$-srhl$X+PilRSlE=+p(%%FKU?Vu^g-F za`}<*6AbRp9Z8ZT$%FUnhL@AE0T>kI@2*Lb chr1 57367043 57367121 ID=SCA37_DAB1;MOTIFS=AAAAT,GAAAT,TGAAA;STRUC= chr1 94418421 94418444 ID=OPDM5_ABCD3;MOTIFS=CCG;STRUC= chr1 149390802 149390842 ID=NIID_NOTCH2NLC;MOTIFS=CGG;STRUC= -chr1 155188505 155192239 ID=ADTKD_MUC1;MOTIFS=ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG;STRUC= +chr1 155188505 155192239 ID=ADTKD_MUC1;MOTIFS=CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT;STRUC= chr1 156591765 156591783 ID=NME_NAXE;MOTIFS=CCGGG,GGGCC;STRUC= chr2 96197066 96197124 ID=FAME2_STARD7;MOTIFS=AAATG,AAAAT,TGAAA;STRUC= chr2 100104798 100104824 ID=FRA2A_AFF3;MOTIFS=CCG;STRUC= diff --git a/data/catalogs/STRchive-disease-loci.hg38.atarva.bed b/data/catalogs/STRchive-disease-loci.hg38.atarva.bed index 337c4c77..f71b0580 100644 --- a/data/catalogs/STRchive-disease-loci.hg38.atarva.bed +++ b/data/catalogs/STRchive-disease-loci.hg38.atarva.bed @@ -3,7 +3,7 @@ chr1 1435798 1435818 AGCGGCGCGG 10 HMNR7_VWA1 chr1 57367078 57367121 GAAAT 5 SCA37_DAB1 chr1 94418421 94418444 CCG 3 OPDM5_ABCD3 chr1 149390802 149390842 CGG 3 NIID_NOTCH2NLC -chr1 155188505 155192239 ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG 61 ADTKD_MUC1 +chr1 155188505 155192239 CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT 61 ADTKD_MUC1 chr1 156591765 156591783 CCGGG 5 NME_NAXE chr2 96197066 96197069 AAATG 5 FAME2_STARD7 chr2 100104798 100104824 CCG 3 FRA2A_AFF3 diff --git a/data/catalogs/STRchive-disease-loci.hg38.atarva.bed.gz b/data/catalogs/STRchive-disease-loci.hg38.atarva.bed.gz index 7ab401506df10d7464b624a7e16f8e4adead9b8f..1f6881bebf2f0f6e86e7dc72529bda4c0f45d03c 100644 GIT binary patch delta 1696 zcmV;R24DHD4zLapABzYC000000RIL6LPG)o6Oj=x92YPT>?4YgVv+p)AAcgCW+UF! z(xHPe#c7J=1Cd=mf7=vhP>J;e(xx7clC&^e<_B~Qe@R6I>nj8mAVG=&&qoKpFw zeAK^Kewe}(pXwCLuW3qP5yFtZ4tf5Fc)Y|Kk7CV1j@wJXz%rln5+3JjDiH6;vf~C? z>E8DHI^QraA8Dr3m$0{r5fD8oOU`#<;{L#|r#;8ht$GC3f0yC4trP<>6ld7hTgV|T z*fpcdzrqf5ynWmPQpm$~rBhcC(Rk;zZ{!tvh^feX43tB9EOe;EhFM4*WYn`)!>sdm zy{)&_1O`#ap3MPeq*7?Lx>~Ed@A;2^{r2yFetN)l(Dc@f=L22!-aDhU>)=z(beEd2`W?_ z482;)wWTeB4G@X5R-}QbV@|_u$GlwEzIqI>*61}IU=U&gg5Sn;8@_zx>3*An3te{3 zSg)Bo7=kIK1RCOHnK;kaO}^0Kdgii@J2(SVOu!J=fAc-B_uKR~1?DAnaHZz|XS)WL z{QuTnJqsvWlvmP$2&NcI)Smt}P=0*BCF~|?i>#e%V3;7K6ayF-!+f?mEnBpq%hqbI z*muyjOl_)5vCISJ(>W|h#a5gqXQ_cNaeIV8PM5IaAqt5T>vaP$u4kt`2AzM5mj`#z ziB*~$e>LD|v|ffA%QoW9R{*NidFqTvQqT3yFsJja1^iep<0 z9<)IvB&B3)Je0f`Vkk{d(^N8Pm{KXq*D1s>e}$S$Q;ey+yR>&oDNIwSW=f&w)$%}1 zw5fbi8(JSq;62RS#~Qxn^>$s3mLQW7XIuyGUW?7<7~&Ez9IDpdDvcdVdVFpzl&9<3 z^SB3e;;drbq2{p?y60iWFY6xSCCB@`J_kcYk*v0!Ep-|au`SMrdZ`!mHt=4XI|O|lP~wjfQRXobIQp< zo{lJ=hBZuiy6sg|K-Q2jwbDqP+%$o$3&-Z=z8d?k8fj%2(4VNUq(BO^^`51dUZBKn zc~%4m6oK6^5&JF8Z{A;~MY9y>72B4qI?7X(BF5pU*V3|tVKdt9IkN3xoy6ISus7ysC`zc52 z{QVr#UTqDmL_4vy^kpFGfL(@sN$F*H=2lwYhpHK`7HVM6+LZ`t;J6$O>i!YK@-6In z8(Y56pi#8(LKUpyqbo69_Pk#1e~)&W(tyUZCR+}4o!qCsNZ!IaoyXc41E|0lMV zo9Ps>Wi1P6nZz)OUh$8T zQ;Smp67=4RYaq|zzl>AKfC2f-^?H4C9hnXmf9Afao^%Imf1)`IC(Zqb)R-~??V{3gqf;V!I%B`tSKjuBmL$f`UEL_60fzcLX zy|jRZF%9)V8U26${6o5LR=r{&Q5~Fx00`qYggic$*E;Yop#m#iu5Pt+&21L4vJP#z zUp3N4Kwb8*eED|0Uh}#Q^U+>pR)Q$fNx1DZ^>3-x?r80z8!0xIMs1T~@Y%#^WrtpXQLm)+9k~SQ*^_86iwH z%UE~}YffRrCL)Wm){#BP*uHAMg_zFU?NKf^+-0qd(&gQqo?-sDU5C8iA5T#{k}8+G qN{D!b?qkp6yd7`X&M0M-?j(j^=aI*`oJZ&fm;VC#WR07X4F@2C6<$OD delta 1693 zcmV;O24eZJ4y_ImABzYC000000RIL6LPG)o5Rnlu91rW*KBCBCu|)m;k3SJmvk~v= z(V>Gd#c7J=1(97of7Kb5>vhP>J;e(xx7clC&^e<_B~Qd2LJTp6X^OG@m)9w#SU#+8 z%TFj2;xwfxl`qm$1&a`d^mWMdN5tbI)_4?a4sr~&Sun87=e&f+xta>ZJF@J!fmXWr z{l3mO%*#ib>GUP+tziU2Ps)<>otU_v@at*M@pP*mf%PT4f3_XPKn%qhw)GZrNDFq& zsPe0@107c%w}2G#a9!!tRYWx2dF>l{g&txm@*V@_kRA&iDzRY}QU@9J9Mv%Eyj^eW zt#yGx6tZV?K#5cetyNcBb@x60@vq$rn6FvSE6aXsJje|o=7Z&P4iQU_OB{(rV>V9Eb) z+tssxqD6Tn9f)9xv1IM(Zv*AW_glhllD5d&xdw&_Qc5v^ficWyo71vI8@g<*_KJN6 zZOhcAx)jSiU_PD0ax`qkX>yht_>#9r8su~dD;}bdII&(g5aW7v+GEi9$9Q>g7oAw8 z$x#D-e`f1txKaLfy)>_k*(q02wSiTihUD@VuGm$lP>WK&0dk3FoMI}ktu)0nB_IV` zT=#swjyklCYVYf5?F}q$DGsmdGDGr##uDnfJ(1x9L94TIHx$a#o$33 zR6kIf6+;ZA>uH)=U9APPe4IiI(@{iYe=655{hd+@(-f+iQi!PwA=ZkV$_KTh z^`r#e!@Pa0;agsB*X8I5GAVJ!b@1-B*ldm=E&;=#YVEDk*rAli=dFeEbX|KL_kd2E zRjfPII#yEmJk0oI-9xlxCIJ1j3akbtn#eN_$%SFF71QKm-}PD!}Q8I<>VkwN0v{+ z8m2tm_9`kMYe<;d(MX-#G=Z%P$L8g}8vCvqX~z=KpQx{*Knk?=o~0kXK*`%sZoFmk z%U_xG@;*#J0`b=&uiLWzwGA)zs6Dqff6~ty(9Z_ysR)`ytk%>)eCcu3%L^dEd7UxG zJ)Phd15FoK6qy8aqZQ>%9U$bL+g$Iqu6>Jag5Hzo{Bvq6*uYBF0#4UdIUh!i<@+f4)cCw}>>;xLhI*7|@e|;Cr z*PVP7!<+cmc8ksl`O$Bm9l?Y&wC#4j~jK^Iica=Zjnw)3 zIi$VX8d!;TV(ZbDK-7R;hI~osWq9Uxw7!R`8Lu8{V9(l>3~AuFYz^xDBZlQ$*z-2F zdZ9t1Xyb({SjERsV!Z5mz1$yde>bH8jb}}^Z0I_^cQbub1{v9Vfl2gFY@ z=Q(WgGTJU{>%^7G?_}O~NJx2ISK3-f44{Z9J0#!9FuoPTJcb!PSJwhElhe|{DtlOf`OEcseRCa|4iwiT(X=-66cx8RK&r1I3%ryuhk=AqdhN);|?+Q4WF$72eN zX{Z~@=>PNQAJTp66$^>#Q{XHFKp3|n(G|xt48`r zsLLLfFW;`$YhJfuKKhHyN)Sal3Ag)9{h8{XrayU2X$s}BtVEPxz7OABj_3NolV%1a ze`86hZbauH5A*OQmG2rLLjpXMSKJ<8r7kPmK;yBO+D~)HVQZ40HmrcjMC-Wot|m_xLt?5-ycs=Jd!F8ca;$F nNZrSt$9X%huANcJD&0v8zxE@KbJ>s32QU8xG#udilMn|W0HIap diff --git a/data/catalogs/STRchive-disease-loci.hg38.atarva.bed.gz.tbi b/data/catalogs/STRchive-disease-loci.hg38.atarva.bed.gz.tbi index e1a7226db72689f3000118d06890693665521d6f..5afce915cb97b5eb05f6f34938b8dd18c9f46617 100644 GIT binary patch delta 232 zcmX@4bWmx-R(=an#<%Cz`Z@QWn8M1lE_y*gMq2`t4ClV$ z5_XmC^CmdWOP)99{r)VSu89{F>wUvjDi!91h6kFR@Uow?O(Yvs(;n3o>f&l z)~(znbycUnF8cDCccmd$pXd5+{(pSMs@>DAR?QRpUG0Cn{`~1#X|=lpL*Gv~4ZZDZ zx;woz@N&+(vcS-O^ZSOAR6J49&(C=vk$=_e*`P9$GgyQq45ZlQPgUJ3lV<;MN$TmP!#u9>{P-Mgx4|C*Jz z^j6)pUEMt^t$2I)s;WId`zES*PC`K^=a+i}MLylHHuV6@Oy0&QEct0e>|~Xb@x{(C W#gz?pj0Y|2ttKzz7nyuopbP-3G;@0Z diff --git a/data/catalogs/STRchive-disease-loci.hg38.general.bed b/data/catalogs/STRchive-disease-loci.hg38.general.bed index c2f85cf8..4c7c2c7b 100644 --- a/data/catalogs/STRchive-disease-loci.hg38.general.bed +++ b/data/catalogs/STRchive-disease-loci.hg38.general.bed @@ -3,7 +3,7 @@ chr1 1435798 1435818 HMNR7_VWA1 VWA1 GGCGCGGAGC AGCGGCGCGG 1 AR Neuronopathy, di chr1 57367043 57367121 SCA37_DAB1 DAB1 AAAAT TGAAA 31 AD Spinocerebellar ataxia type 37 chr1 94418421 94418444 OPDM5_ABCD3 ABCD3 CCG CCG 118 AD Oculopharyngodistal myopathy type 5 chr1 149390802 149390842 NIID_NOTCH2NLC NOTCH2NLC CGG CGG 66 AD Neuronal intranuclear inclusion disease, Alzheimer disease and parkinsonism phenotype, Oculopharyngodistal myopathy (OPDM) type 3, hereditary essential tremor type 6 -chr1 155188505 155192239 ADTKD_MUC1 MUC1 GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG None AD Autosomal dominant tubulointerstitial kidney disease +chr1 155188505 155192239 ADTKD_MUC1 MUC1 GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT None AD Autosomal dominant tubulointerstitial kidney disease chr1 156591765 156591783 NME_NAXE NAXE GGGCC CCGGG 200 AR NAXE-related mitochondrial encephalopathy chr2 96197066 96197124 FAME2_STARD7 STARD7 AAAAT TGAAA 274 AD Familial adult myoclonic epilepsy 2 chr2 100104798 100104824 FRA2A_AFF3 AFF3 CCG CCG 300 AD Intellectual disability associated with fragile site FRA2A diff --git a/data/catalogs/STRchive-disease-loci.hg38.longTR.bed b/data/catalogs/STRchive-disease-loci.hg38.longTR.bed index 49ae12bc..73f1454e 100644 --- a/data/catalogs/STRchive-disease-loci.hg38.longTR.bed +++ b/data/catalogs/STRchive-disease-loci.hg38.longTR.bed @@ -2,7 +2,7 @@ chr1 1435799 1435818 AGCGGCGCGG,GGCGCGGAGC HMNR7_VWA1 chr1 57367044 57367121 TGAAA,AAAAT SCA37_DAB1 chr1 94418422 94418444 CCG OPDM5_ABCD3 chr1 149390803 149390842 CGG NIID_NOTCH2NLC -chr1 155188506 155192239 ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG,ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG ADTKD_MUC1 +chr1 155188506 155192239 CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT,CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG ADTKD_MUC1 chr1 156591766 156591783 CCGGG,GGGCC NME_NAXE chr2 96197067 96197124 TGAAA,AAAAT FAME2_STARD7 chr2 100104799 100104824 CCG FRA2A_AFF3 diff --git a/data/plots/path-size.json b/data/plots/path-size.json index c290dc3b..79f986a3 100644 --- a/data/plots/path-size.json +++ b/data/plots/path-size.json @@ -1,7 +1,7 @@ { "data": [ { - "base": [0, 50, 18, 2871, 0, 0, 1, 15, 1, 0, 15, 252, 10, 24, 9, 18, 12, 15, 1, 0, 0, 9, 0, 24, 18, 9, 15, 44, 0, 20, 39, 1, 1, 1, 45, 0, 21, 12, 33, 48, 15, 1, 18, 30, 15, 75, 18, 42, 60, 18, 96, 18, 27, 12, 18, 42, 27, 45, 45, 42, 24, 45, 45, 12, 36, 12, 36, 21, 30, 42, 0, 30, 30, 18, 15, 16, 20, 30], + "base": [0, 0, 50, 18, 2871, 0, 1, 15, 1, 0, 15, 252, 10, 24, 9, 18, 12, 15, 1, 0, 0, 9, 0, 24, 18, 9, 15, 44, 0, 20, 39, 1, 1, 1, 45, 0, 21, 12, 33, 48, 15, 1, 18, 30, 15, 75, 18, 42, 60, 18, 96, 18, 27, 12, 18, 42, 27, 45, 45, 42, 24, 45, 45, 12, 36, 12, 36, 21, 30, 42, 0, 30, 30, 18, 15, 16, 20, 30], "hovertemplate": "Disease: %{y} \u003cbr\u003e Range: %{base} - %{x} bp", "legendgroup": "Benign", "marker": @@ -12,12 +12,12 @@ "offset": -0.3, "orientation": "h", "width": 0.6, - "x": [0, 110, 66, 198, 0, 0, 143, 99, 54, 0, 51, 780, 25, 513, 51, 51, 105, 117, 149, 0, 0, 39, 0, 12, 30, 123, 222, 60, 0, 220, 96, 179, 95, 59, 105, 0, 90, 126, 99, 51, 84, 149, 78, 87, 87, 45, 87, 36, 54, 66, 0, 87, 75, 69, 60, 42, 33, 0, 0, 0, 30, 0, 0, 42, 0, 39, 0, 21, 18, 0, 0, 0, 0, 12, 0, 0, 0, 0], - "y": ["FAME4", "SCA10", "SCA36", "MRUPAV", "FAME6", "FAME3", "EPM, DEE", "GDPAG", "CANVAS", "FAME2", "FRA7A", "CPUM", "NME", "SCA27B", "FRA2A", "FRA12A", "FRAXE", "FXS, FXTAS, POF1", "OPDM", "SCA31", "FAME1", "OPML1", "aFTLD-U", "EPM1", "OPDM4", "OPDM5", "JBS", "DM2", "FAME7", "RCPS", "OPDM1", "OPDM", "OPDM2", "DBQD2, BSS", "SCA8", "XDP", "NIID", "FTDALS1", "SCA3, MJD", "DMD", "FRDA", "SCA37", "SCA12", "FECD3", "DM1", "SCA17", "DRPLA", "SCA4", "SCA51", "HDL2", "CJD", "SCA1", "SBMA", "SCA7", "HD", "SCA2", "CCHS", "TOF", "HPE5", "HFG-I", "HFG-III", "SD5", "XLID, PHPX", "SCA6", "PRTS", "CCD", "HFG-II", "HSAN VIII", "EIEE1", "BPES", "FAME8", "OPMD", "VACTERLX", "ALS1", "EDM1, PSACH", "CHNG3", "HMNR7", "CPEO"], + "x": [0, 0, 110, 66, 198, 0, 143, 99, 54, 0, 51, 780, 25, 513, 51, 51, 105, 117, 149, 0, 0, 39, 0, 12, 30, 123, 222, 60, 0, 220, 96, 179, 95, 59, 105, 0, 90, 126, 99, 51, 84, 149, 78, 87, 87, 45, 87, 36, 54, 66, 0, 87, 75, 69, 60, 42, 33, 0, 0, 0, 30, 0, 0, 42, 0, 39, 0, 21, 18, 0, 0, 0, 0, 12, 0, 0, 0, 0], + "y": ["FAME6", "FAME4", "SCA10", "SCA36", "MRUPAV", "FAME3", "EPM, DEE", "GDPAG", "CANVAS", "FAME2", "FRA7A", "CPUM", "NME", "SCA27B", "FRA2A", "FRA12A", "FRAXE", "FXS, FXTAS, POF1", "OPDM", "SCA31", "FAME1", "OPML1", "aFTLD-U", "EPM1", "OPDM4", "OPDM5", "JBS", "DM2", "FAME7", "RCPS", "OPDM1", "OPDM", "OPDM2", "DBQD2, BSS", "SCA8", "XDP", "NIID", "FTDALS1", "SCA3, MJD", "DMD", "FRDA", "SCA37", "SCA12", "FECD3", "DM1", "SCA17", "DRPLA", "SCA4", "SCA51", "HDL2", "CJD", "SCA1", "SBMA", "SCA7", "HD", "SCA2", "CCHS", "TOF", "HPE5", "HFG-I", "HFG-III", "SD5", "XLID, PHPX", "SCA6", "PRTS", "CCD", "HFG-II", "HSAN VIII", "EIEE1", "BPES", "FAME8", "OPMD", "VACTERLX", "ALS1", "EDM1, PSACH", "CHNG3", "HMNR7", "CPEO"], "type": "bar" }, { - "base": [0, 165, 90, 0, 0, 0, 147, 0, 55, 0, 126, 0, 0, 540, 0, 417, 120, 135, 474, 0, 0, 0, 0, 0, 0, 0, 240, 108, 0, 260, 0, 0, 0, 0, 150, 0, 114, 144, 135, 0, 102, 0, 120, 120, 105, 123, 108, 81, 0, 87, 0, 108, 108, 84, 81, 87, 63, 0, 0, 0, 0, 0, 0, 57, 0, 0, 0, 0, 0, 0, 0, 33, 33, 0, 0, 0, 0, 0], + "base": [0, 0, 165, 90, 0, 0, 147, 0, 55, 0, 126, 0, 0, 540, 0, 417, 120, 135, 474, 0, 0, 0, 0, 0, 0, 0, 240, 108, 0, 260, 0, 0, 0, 0, 150, 0, 114, 144, 135, 0, 102, 0, 120, 120, 105, 123, 108, 81, 0, 87, 0, 108, 108, 84, 81, 87, 63, 0, 0, 0, 0, 0, 0, 57, 0, 0, 0, 0, 0, 0, 0, 33, 33, 0, 0, 0, 0, 0], "hovertemplate": "Disease: %{y} \u003cbr\u003e Range: %{base} - %{x} bp", "legendgroup": "Intermediate", "marker": @@ -28,12 +28,12 @@ "offset": -0.3, "orientation": "h", "width": 0.6, - "x": [0, 4085, 3804, 0, 0, 0, 246, 0, 945, 0, 129, 0, 0, 417, 0, 201, 480, 465, 0, 0, 0, 0, 0, 0, 0, 0, 60, 188, 0, 0, 0, 0, 0, 0, 60, 0, 81, 36, 42, 0, 63, 0, 27, 30, 42, 21, 33, 54, 0, 30, 0, 6, 3, 21, 24, 15, 12, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0], - "y": ["FAME4", "SCA10", "SCA36", "MRUPAV", "FAME6", "FAME3", "EPM, DEE", "GDPAG", "CANVAS", "FAME2", "FRA7A", "CPUM", "NME", "SCA27B", "FRA2A", "FRA12A", "FRAXE", "FXS, FXTAS, POF1", "OPDM", "SCA31", "FAME1", "OPML1", "aFTLD-U", "EPM1", "OPDM4", "OPDM5", "JBS", "DM2", "FAME7", "RCPS", "OPDM1", "OPDM", "OPDM2", "DBQD2, BSS", "SCA8", "XDP", "NIID", "FTDALS1", "SCA3, MJD", "DMD", "FRDA", "SCA37", "SCA12", "FECD3", "DM1", "SCA17", "DRPLA", "SCA4", "SCA51", "HDL2", "CJD", "SCA1", "SBMA", "SCA7", "HD", "SCA2", "CCHS", "TOF", "HPE5", "HFG-I", "HFG-III", "SD5", "XLID, PHPX", "SCA6", "PRTS", "CCD", "HFG-II", "HSAN VIII", "EIEE1", "BPES", "FAME8", "OPMD", "VACTERLX", "ALS1", "EDM1, PSACH", "CHNG3", "HMNR7", "CPEO"], + "x": [0, 0, 4085, 3804, 0, 0, 246, 0, 945, 0, 129, 0, 0, 417, 0, 201, 480, 465, 0, 0, 0, 0, 0, 0, 0, 0, 60, 188, 0, 0, 0, 0, 0, 0, 60, 0, 81, 36, 42, 0, 63, 0, 27, 30, 42, 21, 33, 54, 0, 30, 0, 6, 3, 21, 24, 15, 12, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0], + "y": ["FAME6", "FAME4", "SCA10", "SCA36", "MRUPAV", "FAME3", "EPM, DEE", "GDPAG", "CANVAS", "FAME2", "FRA7A", "CPUM", "NME", "SCA27B", "FRA2A", "FRA12A", "FRAXE", "FXS, FXTAS, POF1", "OPDM", "SCA31", "FAME1", "OPML1", "aFTLD-U", "EPM1", "OPDM4", "OPDM5", "JBS", "DM2", "FAME7", "RCPS", "OPDM1", "OPDM", "OPDM2", "DBQD2, BSS", "SCA8", "XDP", "NIID", "FTDALS1", "SCA3, MJD", "DMD", "FRDA", "SCA37", "SCA12", "FECD3", "DM1", "SCA17", "DRPLA", "SCA4", "SCA51", "HDL2", "CJD", "SCA1", "SBMA", "SCA7", "HD", "SCA2", "CCHS", "TOF", "HPE5", "HFG-I", "HFG-III", "SD5", "XLID, PHPX", "SCA6", "PRTS", "CCD", "HFG-II", "HSAN VIII", "EIEE1", "BPES", "FAME8", "OPMD", "VACTERLX", "ALS1", "EDM1, PSACH", "CHNG3", "HMNR7", "CPEO"], "type": "bar" }, { - "base": [5000, 4000, 3900, 3663, 3300, 3250, 2235, 2040, 2000, 1370, 1350, 1260, 1000, 960, 900, 819, 603, 603, 582, 550, 525, 483, 380, 360, 360, 354, 303, 300, 300, 280, 255, 249, 219, 216, 213, 210, 198, 186, 180, 177, 168, 155, 153, 153, 150, 147, 144, 138, 135, 120, 120, 117, 114, 111, 108, 105, 78, 75, 75, 66, 66, 66, 66, 63, 60, 60, 54, 54, 51, 45, 45, 36, 36, 33, 18, 12, 10, 0], + "base": [5500, 5000, 4000, 3900, 3663, 3250, 2235, 2040, 2000, 1370, 1350, 1260, 1000, 960, 900, 819, 603, 603, 582, 550, 525, 483, 380, 360, 360, 354, 303, 300, 300, 280, 255, 249, 219, 216, 213, 210, 198, 186, 180, 177, 168, 155, 153, 153, 150, 147, 144, 138, 135, 120, 120, 117, 114, 111, 108, 105, 78, 75, 75, 66, 66, 66, 66, 63, 60, 60, 54, 54, 51, 45, 45, 36, 36, 33, 18, 12, 10, 0], "hovertemplate": "Disease: %{y} \u003cbr\u003e Range: %{base} - %{x} bp", "legendgroup": "Pathogenic", "marker": @@ -44,8 +44,8 @@ "offset": -0.3, "orientation": "h", "width": 0.6, - "x": [0, 18500, 11100, 1287, 0, 1925, 705, 2460, 11750, 1420, 0, 294, 0, 1851, 0, 99, 5397, 5397, 12, 3250, 17875, 1617, 820, 1140, 231, 1728, 597, 43700, 10700, 40, 612, 195, 273, 114, 3687, 102, 1353, 24342, 81, 69, 4932, 220, 81, 7647, 11850, 51, 135, 84, 165, 60, 264, 156, 90, 1269, 642, 1395, 21, 0, 0, 0, 30, 3, 12, 36, 0, 21, 0, 3, 30, 27, 1625, 18, 0, 135, 3, 0, 20, 0], - "y": ["FAME4", "SCA10", "SCA36", "MRUPAV", "FAME6", "FAME3", "EPM, DEE", "GDPAG", "CANVAS", "FAME2", "FRA7A", "CPUM", "NME", "SCA27B", "FRA2A", "FRA12A", "FRAXE", "FXS, FXTAS, POF1", "OPDM", "SCA31", "FAME1", "OPML1", "aFTLD-U", "EPM1", "OPDM4", "OPDM5", "JBS", "DM2", "FAME7", "RCPS", "OPDM1", "OPDM", "OPDM2", "DBQD2, BSS", "SCA8", "XDP", "NIID", "FTDALS1", "SCA3, MJD", "DMD", "FRDA", "SCA37", "SCA12", "FECD3", "DM1", "SCA17", "DRPLA", "SCA4", "SCA51", "HDL2", "CJD", "SCA1", "SBMA", "SCA7", "HD", "SCA2", "CCHS", "TOF", "HPE5", "HFG-I", "HFG-III", "SD5", "XLID, PHPX", "SCA6", "PRTS", "CCD", "HFG-II", "HSAN VIII", "EIEE1", "BPES", "FAME8", "OPMD", "VACTERLX", "ALS1", "EDM1, PSACH", "CHNG3", "HMNR7", "CPEO"], + "x": [0, 0, 18500, 11100, 1287, 1925, 705, 2460, 11750, 1420, 0, 294, 0, 1851, 0, 99, 5397, 5397, 12, 3250, 17875, 1617, 820, 1140, 231, 1728, 597, 43700, 10700, 40, 612, 195, 273, 114, 3687, 102, 1353, 24342, 81, 69, 4932, 220, 81, 7647, 11850, 51, 135, 84, 165, 60, 264, 156, 90, 1269, 642, 1395, 21, 0, 0, 0, 30, 3, 12, 36, 0, 21, 0, 3, 30, 27, 1625, 18, 0, 135, 3, 0, 20, 0], + "y": ["FAME6", "FAME4", "SCA10", "SCA36", "MRUPAV", "FAME3", "EPM, DEE", "GDPAG", "CANVAS", "FAME2", "FRA7A", "CPUM", "NME", "SCA27B", "FRA2A", "FRA12A", "FRAXE", "FXS, FXTAS, POF1", "OPDM", "SCA31", "FAME1", "OPML1", "aFTLD-U", "EPM1", "OPDM4", "OPDM5", "JBS", "DM2", "FAME7", "RCPS", "OPDM1", "OPDM", "OPDM2", "DBQD2, BSS", "SCA8", "XDP", "NIID", "FTDALS1", "SCA3, MJD", "DMD", "FRDA", "SCA37", "SCA12", "FECD3", "DM1", "SCA17", "DRPLA", "SCA4", "SCA51", "HDL2", "CJD", "SCA1", "SBMA", "SCA7", "HD", "SCA2", "CCHS", "TOF", "HPE5", "HFG-I", "HFG-III", "SD5", "XLID, PHPX", "SCA6", "PRTS", "CCD", "HFG-II", "HSAN VIII", "EIEE1", "BPES", "FAME8", "OPMD", "VACTERLX", "ALS1", "EDM1, PSACH", "CHNG3", "HMNR7", "CPEO"], "type": "bar" }, { @@ -1350,8 +1350,8 @@ "mode": "markers", "name": "Pathogenic", "showlegend": false, - "x": [5000, 3300, 1350, 1000, 900, 75, 75, 66, 60, 54, 36, 12], - "y": ["FAME4", "FAME6", "FRA7A", "NME", "FRA2A", "TOF", "HPE5", "HFG-I", "PRTS", "HFG-II", "VACTERLX", "CHNG3"], + "x": [5500, 5000, 1350, 1000, 900, 75, 75, 66, 60, 54, 36, 12], + "y": ["FAME6", "FAME4", "FRA7A", "NME", "FRA2A", "TOF", "HPE5", "HFG-I", "PRTS", "HFG-II", "VACTERLX", "CHNG3"], "type": "scatter" }], "layout": @@ -1934,7 +1934,7 @@ "yaxis": { "tickmode": "array", - "tickvals": ["FAME4", "SCA10", "SCA36", "MRUPAV", "FAME6", "FAME3", "EPM, DEE", "GDPAG", "CANVAS", "FAME2", "FRA7A", "CPUM", "NME", "SCA27B", "FRA2A", "FRA12A", "FRAXE", "FXS, FXTAS, POF1", "OPDM", "SCA31", "FAME1", "OPML1", "aFTLD-U", "EPM1", "OPDM4", "OPDM5", "JBS", "DM2", "FAME7", "RCPS", "OPDM1", "OPDM", "OPDM2", "DBQD2, BSS", "SCA8", "XDP", "NIID", "FTDALS1", "SCA3, MJD", "DMD", "FRDA", "SCA37", "SCA12", "FECD3", "DM1", "SCA17", "DRPLA", "SCA4", "SCA51", "HDL2", "CJD", "SCA1", "SBMA", "SCA7", "HD", "SCA2", "CCHS", "TOF", "HPE5", "HFG-I", "HFG-III", "SD5", "XLID, PHPX", "SCA6", "PRTS", "CCD", "HFG-II", "HSAN VIII", "EIEE1", "BPES", "FAME8", "OPMD", "VACTERLX", "ALS1", "EDM1, PSACH", "CHNG3", "HMNR7", "CPEO"], + "tickvals": ["FAME6", "FAME4", "SCA10", "SCA36", "MRUPAV", "FAME3", "EPM, DEE", "GDPAG", "CANVAS", "FAME2", "FRA7A", "CPUM", "NME", "SCA27B", "FRA2A", "FRA12A", "FRAXE", "FXS, FXTAS, POF1", "OPDM", "SCA31", "FAME1", "OPML1", "aFTLD-U", "EPM1", "OPDM4", "OPDM5", "JBS", "DM2", "FAME7", "RCPS", "OPDM1", "OPDM", "OPDM2", "DBQD2, BSS", "SCA8", "XDP", "NIID", "FTDALS1", "SCA3, MJD", "DMD", "FRDA", "SCA37", "SCA12", "FECD3", "DM1", "SCA17", "DRPLA", "SCA4", "SCA51", "HDL2", "CJD", "SCA1", "SBMA", "SCA7", "HD", "SCA2", "CCHS", "TOF", "HPE5", "HFG-I", "HFG-III", "SD5", "XLID, PHPX", "SCA6", "PRTS", "CCD", "HFG-II", "HSAN VIII", "EIEE1", "BPES", "FAME8", "OPMD", "VACTERLX", "ALS1", "EDM1, PSACH", "CHNG3", "HMNR7", "CPEO"], "title": { "text": "Disease" diff --git a/data/ref-alleles/ref-alleles.T2T-chm13.txt b/data/ref-alleles/ref-alleles.T2T-chm13.txt index e032892d..936c5f52 100644 --- a/data/ref-alleles/ref-alleles.T2T-chm13.txt +++ b/data/ref-alleles/ref-alleles.T2T-chm13.txt @@ -23,8 +23,8 @@ GATCTGCCCA GG CGG CGG CGG CGG CGG CGG CGG CGG CGG CGG AGGAGG CGG CG ACCGAGAAGA GATCTGCCCA GG CGG CGG CGG CGG CGG CGG CGG CGG CGG CGG AGGAGG CGG CG ACCGAGAAGA ADTKD_MUC1 -chr1 154328121 154330802 GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG STRchive -chr1 154328121 154330802 ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG TRGT +chr1 154328121 154330802 GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT STRchive +chr1 154328121 154330802 CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT TRGT TGCAGAGCCT GAGGCCGAGGTGACATTGTGGACTGGAGGGGCGGTGGAGCCCAAGGCGGGCCTGTTGTCCGGGGCCGAGGTGACACCATG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGGGTGGAGCCCGGGGCCCGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGTGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCTGGCTTGTTGTCCGGGGCTGAGGTGACATCGTGGGCTGGCGGGGTGGTGGAGCCCAGGGCTGGCCTGGTGACTGGGACCGAGGTGACATCCTGTCCCCAGGTGGCAGCTGAACCTGAAGCTGGTTCCGTGGCCGGGGCCAGAGTGACATCCTGTCCCTGAGTGGTGGAGGAGCCTGAACCGGGGCTGTGGCTGGAGAGTACGCTGCTGGTCATACTCACAGCATTCTTCTCAGTAGAGCTGGGCACTGAACTTCTCTGGGTAGCCGAAGTCTCCTT TTCTCCACCT TGCAGAGCCT GAGGCCGAGGTGACATTGTGGACTGGAGGGGCGGTGGAGCCCAAGGCGGGCCTGTTGTCCGGGGCCGAGGTGACACCATG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGGGTGGAGCCCGGGGCCCGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGTGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCTGGCTTGTTGTCCGGGGCTGAGGTGACATCGTGGGCTGGCGGGGTGGTGGAGCCCAGGGCTGGCCTGGTGACTGGGACCGAGGTGACATCCTGTCCCCAGGTGGCAGCTGAACCTGAAGCTGGTTCCGTGGCCGGGGCCAGAGTGACATCCTGTCCCTGAGTGGTGGAGGAGCCTGAACCGGGGCTGTGGCTGGAGAGTACGCTGCTGGTCATACTCACAGCATTCTTCTCAGTAGAGCTGGGCACTGAACTTCTCTGGGTAGCCGAAGTCTCCTT TTCTCCACCT diff --git a/data/ref-alleles/ref-alleles.hg19.txt b/data/ref-alleles/ref-alleles.hg19.txt index 8263f3de..16a0fd19 100644 --- a/data/ref-alleles/ref-alleles.hg19.txt +++ b/data/ref-alleles/ref-alleles.hg19.txt @@ -23,8 +23,8 @@ GATCTGCCCA GG CGG CGG CGG CGG CGG CGG CGG AGGAGGCG ACCGAGAAGA GATCTGCCCA GG CGG CGG CGG CGG CGG CGG CGG AGGAGGCG ACCGAGAAGA ADTKD_MUC1 -chr1 155160981 155162030 GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG STRchive -chr1 155160981 155162030 ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG TRGT +chr1 155160981 155162030 GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT STRchive +chr1 155160981 155162030 CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT TRGT TGCAGAGCCT GAGGCCGAGGTGACATTGTGGACTGGAGGGGCGGTGGAGCCCAAGGCGGGCCTGTTGTCCGGGGCCGAGGTGACACCATG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGGGTGGAGCCCGGGGCCCGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGTGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCTGGCTTGTTGTCCGGGGCTGAGGTGACATCGTGGGCTGGCGGGGTGGTGGAGCCCAGGGCTGGCCTGGTGACTGGGACCGAGGTGACATCCTGTCCCCAGGTGGCAGCTGAACCTGAAGCTGGTTCCGTGGCCGGGGCCAGAGTGACATCCTGTCCCTGAGTGGTGGAGGAGCCTGAACCGGGGCTGTGGCTGGAGAGTACGCTGCTGGTCATACTCACAGCATTCTTCTCAGTAGAGCTGGGCACTGAACTTCTCTGGGTAGCCGAAGTCTCCTT TTCTCCACCT TGCAGAGCCT GAGGCCGAGGTGACATTGTGGACTGGAGGGGCGGTGGAGCCCAAGGCGGGCCTGTTGTCCGGGGCCGAGGTGACACCATG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGGGTGGAGCCCGGGGCCCGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGTGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCTGGCTTGTTGTCCGGGGCTGAGGTGACATCGTGGGCTGGCGGGGTGGTGGAGCCCAGGGCTGGCCTGGTGACTGGGACCGAGGTGACATCCTGTCCCCAGGTGGCAGCTGAACCTGAAGCTGGTTCCGTGGCCGGGGCCAGAGTGACATCCTGTCCCTGAGTGGTGGAGGAGCCTGAACCGGGGCTGTGGCTGGAGAGTACGCTGCTGGTCATACTCACAGCATTCTTCTCAGTAGAGCTGGGCACTGAACTTCTCTGGGTAGCCGAAGTCTCCTT TTCTCCACCT diff --git a/data/ref-alleles/ref-alleles.hg38.txt b/data/ref-alleles/ref-alleles.hg38.txt index 9437d479..2e58cb5a 100644 --- a/data/ref-alleles/ref-alleles.hg38.txt +++ b/data/ref-alleles/ref-alleles.hg38.txt @@ -23,10 +23,10 @@ GATCTGCCCA GG CGG CGG CGG CGG CGG CGG CGG CGG CGG AGGAGG CGG CG ACCGAGAAGA GATCTGCCCA GG CGG CGG CGG CGG CGG CGG CGG CGG CGG AGGAGG CGG CG ACCGAGAAGA ADTKD_MUC1 -chr1 155188505 155192239 GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG STRchive -chr1 155188505 155192239 ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG TRGT -TGCAGAGCCT GAGGCCGAGGTGACATTGTGGACTGGAGGGGCGGTGGAGCCCAAGGCGGGCCTGTTGTCCGGGGCCGAGGTGACACCATG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGGGTGGAGCCCGGGGCCCGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGTGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGTGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGACTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGGCCGGCCTGGTGTCCGGTGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGAGCCGGTCTGTTGTCCGGGGCCGAGGTGACACCGTGTGCTGGAGTGTCGGTGGAGCCCGAGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACTGTGAGCTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCTGTTTTAAATATACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGACGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCTCTCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGTAGCCCGGGGCGGGCCTTGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGACTGGTGTCCGGGGCCGAGGTGACACCGTG GGTTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGCGCGGTGGAGCCCGGGCCAGAACTGCTTTCCGGGGCCGTGGTGACTCCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCTGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCGGAACTCTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGGGGGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCTGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGTCGAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCTGGGGGGGCGGTGGAGCCGGGGCCGGCCTGGTGTCCGGGGTTGGAAAACTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCAGGGGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGTCCGTCCTTCTCTCCGAGGGCCGAGGTGACATCGTAGACTGCGGGCGCGGTGGAGCCCGGGTCCGGCCTGCTCTCCGAGGCCGAGGTGACACCGTAGACTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGAACCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGACCGACCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCGGACCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCTGGCTTGTTGTCCGGGGCTGAGGTGACATCGTGGGCTGGCGGGGTGGTGGAGCCCAGGGCTGGCCTGGTGACTGGGACCGAGGTGACATCCTGTCCCCAGGTGGCAGCTGAACCTGAAGCTGGTTCCGTGGCCGGGGCCAGAGTGACATCCTGTCCCTGAGTGGTGGAGGAGCCTGAACCGGGGCTGTGGCTGGAGAGTACGCTGCTGGTCATACTCACAGCATTCTTCTCAGTAGAGCTGGGCACTGAACTTCTCTGGGTAGCCGAAGTCTCCTT TTCTCCACCT +chr1 155188505 155192239 GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT STRchive +chr1 155188505 155192239 CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT TRGT TGCAGAGCCT GAGGCCGAGGTGACATTGTGGACTGGAGGGGCGGTGGAGCCCAAGGCGGGCCTGTTGTCCGGGGCCGAGGTGACACCATG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGGGTGGAGCCCGGGGCCCGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGTGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGTGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGACTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGGCCGGCCTGGTGTCCGGTGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGAGCCGGTCTGTTGTCCGGGGCCGAGGTGACACCGTGTGCTGGAGTGTCGGTGGAGCCCGAGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACTGTGAGCTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCTGTTTTAAATATACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGACGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCTCTCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGTAGCCCGGGGCGGGCCTTGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGACTGGTGTCCGGGGCCGAGGTGACACCGTG GGTTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGCGCGGTGGAGCCCGGGCCAGAACTGCTTTCCGGGGCCGTGGTGACTCCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCTGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCGGAACTCTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGGGGGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCTGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGTCGAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCTGGGGGGGCGGTGGAGCCGGGGCCGGCCTGGTGTCCGGGGTTGGAAAACTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCAGGGGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGTCCGTCCTTCTCTCCGAGGGCCGAGGTGACATCGTAGACTGCGGGCGCGGTGGAGCCCGGGTCCGGCCTGCTCTCCGAGGCCGAGGTGACACCGTAGACTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGAACCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGACCGACCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCGGACCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCTGGCTTGTTGTCCGGGGCTGAGGTGACATCGTGGGCTGGCGGGGTGGTGGAGCCCAGGGCTGGCCTGGTGACTGGGACCGAGGTGACATCCTGTCCCCAGGTGGCAGCTGAACCTGAAGCTGGTTCCGTGGCCGGGGCCAGAGTGACATCCTGTCCCTGAGTGGTGGAGGAGCCTGAACCGGGGCTGTGGCTGGAGAGTACGCTGCTGGTCATACTCACAGCATTCTTCTCAGTAGAGCTGGGCACTGAACTTCTCTGGGTAGCCGAAGTCTCCTT TTCTCCACCT +TGCAGAGCCT GAGGCCGAGGTGACATTGTGGACTGGAGGGGCGGTGGAGCCCAAGGCGGGCCTGTTGTCCGGGGCCGAGGTGACACCATG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGGGTGGAGCCCGGGGCCCGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGTGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGTGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGACTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGGCCGGCCTGGTGTCCGGTGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGAGCCGGTCTGTTGTCCGGGGCCGAGGTGACACCGTGTGCTGGAGTGTCGGTGGAGCCCGAGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACTGTGAGCTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCTGTTTTAAATATACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGACGGCCTGGTGT CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCTCTCGCGGTGGAGCCCGGGGCCGGCCTGCTCT CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGTAGCCCGGGGCGGGCCTTGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGACTGGTGTCCGGGGCCGAGGTGACACCGTG GGTTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGCGCGGTGGAGCCCGGGCCAGAACTGCTTTCCGGGGCCGTGGTGACTCCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCTGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCGGAACTCTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGGGGGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCTGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGTCGAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCTGGGGGGGCGGTGGAGCCGGGGCCGGCCTGGTGTCCGGGGTTGGAAAACTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCAGGGGT CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGTCCGTCCTTCTCTCCGAGGGCCGAGGTGACATCGTAGACTGCGGGCGCGGTGGAGCCCGGGTCCGGCCTGCTCTCCGAGGCCGAGGTGACACCGTAGACTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGAACCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGGACCGACCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCGGACCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCTGGCTTGTTGTCCGGGGCTGAGGTGACATCGTGGGCTGGCGGGGTGGTGGAGCCCAGGGCTGGCCTGGTGACTGGGACCGAGGTGACATCCTGTCCCCAGGTGGCAGCTGAACCTGAAGCTGGTTCCGTGGCCGGGGCCAGAGTGACATCCTGTCCCTGAGTGGTGGAGGAGCCTGAACCGGGGCTGTGGCTGGAGAGTACGCTGCTGGTCATACTCACAGCATTCTTCTCAGTAGAGCTGGGCACTGAACTTCTCTGGGTAGCCGAAGTCTCCTT TTCTCCACCT NME_NAXE chr1 156591765 156591783 GGGCC,CCGGG STRchive From 60311d9096f3324e60bbf6b241ba6bc19d7da9c0 Mon Sep 17 00:00:00 2001 From: Gabriel Zinser Date: Tue, 30 Jun 2026 16:45:37 -0600 Subject: [PATCH 3/3] adding polyQ expansion RUNX2 --- data/STRchive-loci.json | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/data/STRchive-loci.json b/data/STRchive-loci.json index 72ca9ee3..5bb76c27 100644 --- a/data/STRchive-loci.json +++ b/data/STRchive-loci.json @@ -4280,7 +4280,7 @@ "age_onset_max": 0.0, "typ_age_onset_min": null, "typ_age_onset_max": null, - "details": "Benign range (4-17 repeats) established from gnomAD and primary literature; pathogenic ranges (20-27) reflect two clinical cases to date [@gnomad:RUNX2; @pmid:26220009]. Intermediate alleles (i.e, 18 repeats; 19 not reported) appear to not be associated with disease [@pmid:20560987; @pmid:26220009]. The gene RUNX2 was previously called CBFA1, as reflected in some of the literature [@pmid:9182765]. Pathogenic range alleles up to 23 repeats have been detected in asymptomatic individuals, indicating potential incomplete penetrance [@pmid:40585427].", + "details": "Benign range (4-17 repeats) established from gnomAD and primary literature; pathogenic ranges (20-27) reflect two clinical cases to date [@gnomad:RUNX2; @pmid:26220009]. Intermediate alleles (i.e, 18 repeats; 19 not reported) appear to not be associated with disease [@pmid:20560987; @pmid:26220009]. The gene RUNX2 was previously called CBFA1, as reflected in some of the literature [@pmid:9182765]. Pathogenic range alleles up to 23 repeats have been detected in asymptomatic individuals, indicating potential incomplete penetrance [@pmid:40585427]. A polyglutamine expansion has also been noted in this locus. A 4 CAG motif expansion in the polyQ region has been found in one proband with CCD, while a 7 CAG expansion has been found in unaffected individuals. [@pmid:25852448].", "detection": null, "mechanism": "LoF", "mechanism_detail": "Polyalanine expansion leading to haploinsufficiency [@pmid:26220009].",