Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CA12_chr15_63316378_63386846	63320809	CAACCAGA others(258): Show CAACCAGAAGGTGTTTCCATGCCACGTGATTGGGATAAGCACGGTAAACT CTAAGACCAGAAGGTGTTTCCATGCCACGTGATTGGGATAAGCACGGTAA ACTCTAAGACCAGAAGGTGTTTCCATGCCACGTGATTGGGATAAGCACGG TAAACTCTAAGACCAGAAGGTGTTTCCATGCCACGTGATTGGGATAAGCA CGGTAAACTCTACAACCAGAAGGTGTTTCCATGCCACGTGATTGGGATAA GCACGGTAAACTCTAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0224 a0001c0001t0048g0224	1	356	0.0028	-265	c.52 others(11): Show c.5211_*5475del		CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding					568		chr15	TogoVar
CACNG7_chr19_53904278_53948950	53920973	CTGGTCAT others(258): Show CTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCCA GGCTGGTCATTGGTGGAGTTGCCCCAGGCCTGGTCATTGGTGGACTTGCC CCAGGTCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTATTGGTGGAGT TGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGG ACTTGCCCCAGGCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTATTGG TGGAGTTGCCCCAGGT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0017 a0001c0001t0006g0017	1	364	0.0028	-265	c.424 others(17): Show c.424+5469_424+5733del		CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5						chr19	TogoVar
CCDC6_chr10_59783747_59911556	59882034	AGGAAAGG others(258): Show AGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGA AAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGG AAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGCGGGATGAAGGAATATGAA ATGCCGGGGGGAGAAGGAAAGGTAAAGCCGCGGGGAGTAAGGAAAGGAAA GTCCGGGGTAGTAAGGAAAGGTAAAGCCGGGGGGATGAATGGAAAGGTAA TGCTCGGCGGGAGAAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0266 a0002c0002t0001g0266	1	288	0.0035	-265	c.303 others(19): Show c.303+23823_303+24087del		CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8						chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882163	GGCGGGAT others(258): Show GGCGGGATGAAGGAATATGAAATGCCGGGGGGAGAAGGAAAGGTAAAGCC GCGGGGAGTAAGGAAAGGAAAGTCCGGGGTAGTAAGGAAAGGTAAAGCCG GGGGGATGAATGGAAAGGTAATGCTCGGCGGGAGAATGGAAAGGAAAGCC GGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGCGG GGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCAGGGGGAG AAGGAAAGGAAAGCCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01106.hp1 NA20300.hp2 HG00140.hp1 HG01106.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0001 a0002c0002t0001 a0002c0004t0001	a0002c0002t0001g0214 a0002c0004t0001g0175 a0002c0004t0001g0176 a0002c0002t0001g0214 a0002c0004t0001g0175 a0002c0004t0001g0176	3	288	0.0104	-265	c.303 others(19): Show c.303+23694_303+23958del		CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8						chr10	TogoVar
DHRSX_chrX_2214506_2505976	2276895	GAGAGAAA others(258): Show GAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACG AGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAGAGAGAGAAAGA GAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAG AGGAGGAGAGGGAGGAAATAGGGGGAAAGAGAGAAAGAGAGATGGAGAGG GAACAGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGA GGAGGAAATAGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	50	0.0200	-265	c.389 others(18): Show c.389-10213_389-9949del		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6						chrX	TogoVar
DIRAS1_chr19_2709567_2726372	2714117	TCCACCCT others(258): Show TCCACCCTTCACACCATCCCTCACTTCCTACACCCACCACTTCCTCCACC CTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCAC CCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATC CCTCACTTCCTACACCCACCACCTTCTCAACCCTTCACCCCATCCCTCAC TTCCTCCACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTA CACCCATCACCTCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0024 a0001c0001t0012g0024	1	412	0.0024	-265	c.28 others(11): Show c.2828_*3092del		DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding					449		chr19	TogoVar
GPR34_chrX_41683973_41702275	41702010	TAAAAAAC others(258): Show TAAAAAACATAAATTGCCATTAATATGTATTGGGGGTAAAAATTTCTGCT TACCACTCATCAAAATTGTATGATGTCAAAAAAAACAAAATCTTTGCCGG GCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGG TGGATCACCTGAGGTCAGGAGTTCAAGACGAGCCTGACCAACATGGAGAA ACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCGCATGC CTGTAATCCCAGCTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA19058.hp1 NA19084.hp2 NA18979.hp1 NA19058.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	3	297	0.0101	-265	c.52 others(11): Show c.5232_*5496del		GPR34	ENSG00000171659.16	transcript	ENST00000378142.9	protein_coding					4736		chrX	TogoVar
NEU4_chr2_241804193_241822413	241807225	CCCCTCAG others(258): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTT CCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	319	0.0031	-265	c.-20 others(11): Show c.-2052_-1788del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1967		chr2	TogoVar
NPIPB4_chr16_21829582_21862756	21835688	GGTGGAAG others(258): Show GGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATC CGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATAT TATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGC TCGGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCG CAGACGCTCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCT GAGGGTGGAGCTGAGT	G G	frameshift_variant frameshift_variant	HIGH	HG01975.hp1 HG01975.hp1	a0082 a0082	a0082c0079 a0082c0079	a0082c0079t0001 a0082c0079t0001	a0082c0079t0001g0080 a0082c0079t0001g0080	1	204	0.0049	-265	c.243 others(9): Show c.2434_2698del	p.Thr others(5): Show p.Thr812fs	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	2913/4020	2434/3669	812/1222			chr16	TogoVar
P2RX5_chr17_3668227_3701155	3685848	CCCCCCCG others(258): Show CCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGG ACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACAC ACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAA CAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCC CCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACC CTCCCAACGTCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG02451.hp2 others(2): Show HG01167.hp1 HG01243.hp1 HG02451.hp2 HG03209.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0192 a0002c0002t0001g0217 a0002c0002t0001g0218 others(2): Show a0002c0002t0001g0192 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0224	5	362	0.0138	-265	c.981 others(17): Show c.981+1899_981+2163del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686190	GAGAACAG others(258): Show GAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGC GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA20805.hp1 HG00639.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0318 a0002c0002t0001g0319	2	362	0.0055	-265	c.981 others(17): Show c.981+1557_981+1821del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686272	ACACAGCG others(258): Show ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCA CAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCC TCAGAACAGGAGAACG	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	362	0.0028	-265	c.981 others(17): Show c.981+1475_981+1739del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686455	CAGAACAG others(258): Show CAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAAC ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCA GCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACG TCCCCCTCCCAGCCTG	C C	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	362	0.0028	-265	c.981 others(17): Show c.981+1292_981+1556del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686680	TGGGCCCC others(258): Show TGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGA GAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCG CCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCC AACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGG GCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAAC AGGAGAACACACAGCG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	362	0.0028	-265	c.981 others(17): Show c.981+1067_981+1331del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686788	CAGAACAG others(258): Show CAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAAC ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCA GCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACG TCCCCCTCCCAGCCTG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02015.hp1 HG02071.hp1 others(6): Show HG00609.hp2 HG02015.hp1 HG02071.hp1 HG02080.hp2 HG02683.hp2 NA18994.hp1 NA19011.hp1 NA19012.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0045 a0001c0001t0001g0105 a0001c0001t0002g0077 others(6): Show a0001c0001t0001g0045 a0001c0001t0001g0105 a0001c0001t0002g0077 a0001c0001t0002g0114 a0002c0002t0001g0118 a0002c0002t0002g0126 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168	9	362	0.0249	-265	c.981 others(16): Show c.981+959_981+1223del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686877	GGGGCCCC others(258): Show GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGA CCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGG GCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAAC AGGAGAACACACAGCT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02735.hp1 NA18943.hp1 others(6): Show HG01192.hp2 HG02735.hp1 NA18943.hp1 NA18944.hp1 NA18954.hp1 NA18977.hp1 NA18998.hp1 NA19055.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0107 a0002c0002t0002g0002 a0002c0002t0002g0127 others(4): Show a0002c0002t0001g0107 a0002c0002t0002g0002 a0002c0002t0002g0127 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0324 a0002c0002t0002g0343	9	362	0.0249	-265	c.981 others(16): Show c.981+870_981+1134del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3687044	TCCCAGCC others(258): Show TCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCC CAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTG GGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGA ACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCC CAGCCTCAGAACAGGAGAACACACAGCGGGACCCCCAGGGACCCTCCCAA CGTCCCCCGCCCCCCG	T T	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	362	0.0028	-265	c.981 others(15): Show c.981+703_981+967del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3687182	GAGAACAG others(258): Show GAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGACCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAAC GCACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAG AACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	362	0.0028	-265	c.981 others(15): Show c.981+565_981+829del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3687665	GGGACCCC others(258): Show GGGACCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCT CCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCC AACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGG GCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAAC AGGAGAACACACAGCT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02647.hp1 NA18906.hp2 HG02559.hp1 HG02647.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0286 a0001c0001t0001g0296 a0001c0001t0001g0242 a0001c0001t0001g0286 a0001c0001t0001g0296	3	362	0.0083	-265	c.981 others(14): Show c.981+82_981+346del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
PCGF3_chr4_700832_775089	758648	CTTCTCCT others(258): Show CTTCTCCTTCCGGACTCCAGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGA GTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCTCGCGGCCCCTCTCC CGAGCTCTTCTTGCTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTC TCCCGAGCTCTTCTTGCTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCC CTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGG CCCCTCTCCCGAGTTG	C C	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG03486.hp1 HG03704.hp2 others(2): Show HG02129.hp2 HG03486.hp1 HG03704.hp2 NA18946.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0166 a0001c0001t0002g0168 others(2): Show a0001c0001t0002g0161 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0245	5	366	0.0137	-265	c.463 others(17): Show c.463-2613_463-2349del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	758814	CTCCGGAC others(258): Show CTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTC TCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTG TTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAG CTCTTCTCGCTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCC GAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCT CCCGAGTTGTTCTCCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp1 NA18993.hp1 others(2): Show HG01081.hp1 HG01106.hp1 NA18993.hp1 NA19009.hp1 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0203 a0001c0001t0001g0224 a0001c0001t0001g0240 others(2): Show a0001c0001t0001g0203 a0001c0001t0001g0224 a0001c0001t0001g0240 a0001c0001t0001g0241 a0002c0002t0001g0235	5	366	0.0137	-265	c.463 others(17): Show c.463-2366_463-2102del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	759125	CTTCTCCT others(258): Show CTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGA GTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCC CGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTC TCCCGAGCTCTTCTCGCTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCC CTCTCCCGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGG CCCCTCTCCCGAGTTG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02965.hp1 HG02055.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0115 a0001c0001t0025g0116 a0001c0001t0025g0115 a0001c0001t0025g0116	2	366	0.0055	-265	c.463 others(17): Show c.463-2048_463-1784del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	759602	CTTCTCCT others(258): Show CTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGA GTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCC CGAGTTCTTCTCCTTCCGGACTCTGGGTCTTTCTCCCCGCGCGGCCCCTC TCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCC CTCTCCCGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGG CCCCTCTCCCGAGTTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01346.hp2 HG02071.hp1 others(16): Show HG00099.hp1 HG01346.hp2 HG02071.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG03831.hp1 HG04115.hp2 HG04228.hp2 NA18943.hp1 NA18944.hp2 NA18960.hp1 NA18968.hp1 NA18986.hp1 NA19000.hp1 NA19067.hp2 NA19074.hp1 NA19091.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0033 a0001c0001t0034 others(2): Show a0001c0001t0008 a0001c0001t0033 a0001c0001t0034 a0001c0001t0065 a0001c0001t0066	a0001c0001t0008g0171 a0001c0001t0008g0246 a0001c0001t0008g0252 others(16): Show a0001c0001t0008g0171 a0001c0001t0008g0246 a0001c0001t0008g0252 a0001c0001t0008g0270 a0001c0001t0008g0271 a0001c0001t0008g0273 a0001c0001t0008g0274 a0001c0001t0008g0275 a0001c0001t0008g0276 a0001c0001t0008g0278 a0001c0001t0008g0281 a0001c0001t0008g0319 a0001c0001t0008g0338 a0001c0001t0008g0340 a0001c0001t0008g0344 a0001c0001t0033g0067 a0001c0001t0034g0283 a0001c0001t0065g0107 a0001c0001t0066g0091	19	366	0.0519	-265	c.463 others(17): Show c.463-1592_463-1328del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PXDNL_chr8_51314577_51814445	51534441	GCCCCTCT others(258): Show GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGAGGTGGGGGGATCAGC CCCCACCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCG CCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGATCAGCCCCCACT GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01109.hp1 HG01169.hp2 others(7): Show HG00438.hp2 HG01109.hp1 HG01169.hp2 HG01975.hp1 HG03492.hp2 NA18959.hp2 NA18966.hp2 NA18984.hp2 NA19003.hp2 NA19056.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0046 a0002c0002 others(2): Show a0001c0001 a0001c0046 a0002c0002 a0002c0037 a0005c0018	a0001c0001t0001 a0001c0046t0001 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0046t0001 a0002c0002t0001 a0002c0002t0002 a0002c0037t0001 a0005c0018t0001	a0001c0001t0001g0032 a0001c0001t0001g0078 a0001c0046t0001g0020 others(7): Show a0001c0001t0001g0032 a0001c0001t0001g0078 a0001c0046t0001g0020 a0002c0002t0001g0023 a0002c0002t0002g0104 a0002c0002t0002g0109 a0002c0002t0002g0112 a0002c0002t0002g0117 a0002c0037t0001g0087 a0005c0018t0001g0024	10	122	0.0820	-265	c.380 others(19): Show c.380+22134_380+22398del		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22						chr8	TogoVar
RNF148_chr7_122696668_122707922	122705716	TATAATAT others(258): Show TATAATATATCATATATTATATAATATATAATATATATAATATATAATAT ATGATATATTATATAATATATATCATATATAATATAATATATATGATATA TAATAATATATATTTATATATAATATATATTATATAACATATTATACATA TTATATATAATATAATATAATAAATATAATATAATATATAATATATTATA TAATATAATATATAATATATTATATAATATAATATATAATATATATATAA TATAATATAATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	432	0.0023	-265	c.-32 others(11): Show c.-3231_-2967del		RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding					2795		chr7	TogoVar
SCNN1D_chr1_1275436_1297025	1289843	CCGTGTCC others(258): Show CCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA18961.hp1 NA19009.hp1 others(1): Show HG01346.hp1 NA18961.hp1 NA19009.hp1 NA19057.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0003 a0001c0001t0002 a0003c0004t0003	a0001c0001t0002g0229 a0003c0004t0003g0004 a0003c0004t0003g0006 others(1): Show a0001c0001t0002g0229 a0003c0004t0003g0004 a0003c0004t0003g0006 a0003c0004t0003g0007	4	290	0.0138	-265	c.166 others(17): Show c.1663-426_1663-162del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC66A2_chr18_79897420_79956653	79920086	AGGAACCG others(258): Show AGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACGGAACCGAGGGA GAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTC AGTGGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAG ACGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGG GAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGG TCAGTGAGGAGAGACG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG01109.hp2 others(3): Show HG00099.hp2 HG00323.hp1 HG01109.hp2 HG01433.hp1 HG02735.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0186 a0001c0001t0005g0188 others(3): Show a0001c0001t0005g0009 a0001c0001t0005g0186 a0001c0001t0005g0188 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0205	6	352	0.0171	-265	c.392 others(15): Show c.392-951_392-687del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
TENM2_chr5_166974029_168269157	167974021	GAGGAAGG others(258): Show GAGGAAGGAAGGAAGGAGAAGGAAGGAAGGGAGGAAAGGAGGGAGGGAGG GAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGAGGGAGGA AGGAAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGAGGGA GGGAGGGAGGAAGGAAGGAAGGAAGGGAGAAAGGGAGGGAGGGAGGGAGG GAGGGAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGAGGG AGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0051 a0001c0015t0002g0051	1	54	0.0185	-265	c.948 others(19): Show c.948-18911_948-18647del		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	6/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TMEM18_chr2_658877_682406	671353	CCCTCCTG others(258): Show CCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGAGGAGAGGCA GGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGAGGAGAG GCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGAGGA GAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGA GGAGAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCG GGAGGAGAGGCAGGGT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02622.hp2 others(17): Show HG01891.hp1 HG02451.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0019 a0001c0001t0025 others(3): Show a0001c0001t0006 a0001c0001t0019 a0001c0001t0025 a0001c0001t0028 a0001c0002t0005 a0001c0002t0021	a0001c0001t0006g0006 a0001c0001t0019g0029 a0001c0001t0025g0044 others(3): Show a0001c0001t0006g0006 a0001c0001t0019g0029 a0001c0001t0025g0044 a0001c0001t0028g0140 a0001c0002t0005g0053 a0001c0002t0021g0058	20	442	0.0453	-265	c.233 others(17): Show c.233+1190_233+1454del		TMEM18	ENSG00000151353.15	transcript	ENST00000281017.8	protein_coding	3/4						chr2	TogoVar
TNK2_chr3_195858364_195913551	195874580	CCCCCTCG others(258): Show CCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCT CGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGAT GGCGCCCACGCACGCTCCGAGGCACAAGAAACTCTCCCTCGGGATGGCGC CCACGCACGCTCCGAGGCACAGGAAGCTCCCCTCGGGATGGCGCCCACGC ACGCTCCGAGGCACAGGAAGCTCCCCTCGGGATGGCGCCCACGCACACTC CGAGGCACAAGAAGCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0235 a0001c0002t0001g0235	1	372	0.0027	-265	c.125 others(19): Show c.1257-2375_1257-2111del		TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15						chr3	TogoVar
TRAPPC9_chr8_139722725_140462744	140196024	CTCACACC others(258): Show CTCACACCTGTGACACTAAAACACATTGAACAATTCACATACAGACCACA CCTGTGATACTAAAACACTCAATGATCCACACCATACAGATCACACCTGT GACACTGAAACACAACGATCCACCATACAGATCACACCTGTGACACTAAA ACACACTCAACGATCCACCATACAGATCACACCTGTGACACTAAAACACA CTCAACGATCCACCATACAGATCACACCTGTGACACTAAAACACACTCAA CGATCCACCATACAGA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0039 a0001c0002t0002g0039	1	98	0.0102	-265	c.255 others(21): Show c.2556+25170_2556+25434del		TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22						chr8	TogoVar
TTLL8_chr22_50013575_50063298	50021384	CGTGCACT others(258): Show CGTGCACTCCTCCATCTGATGTGCACTCCTCCATCTGATGATGTGTACTC CTCCATCTGACGTGCACTCCTCCATGTGACGACGTGCACTCCTCCATCTG ACATGCACTCCTCCATCTGATGACGTGCACTCCTCCATCTGACGTGCACT CCTCCATCTGATGTGCACTCCTCCATCTGATGATGTGTACTCCTCCATCT GATGTGCACTCCTCCATCTGACGACGTGCACTCCTCCATCTGACATGCAC TCCTCCATCTGATGAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02717.hp1 HG03471.hp2 others(1): Show HG02257.hp2 HG02717.hp1 HG03471.hp2 NA19043.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0005c0028 a0002c0002 a0005c0005 a0005c0028	a0002c0002t0001 a0005c0005t0002 a0005c0028t0002 a0002c0002t0001 a0005c0005t0002 a0005c0028t0002	a0002c0002t0001g0020 a0002c0002t0001g0153 a0005c0005t0002g0186 others(1): Show a0002c0002t0001g0020 a0002c0002t0001g0153 a0005c0005t0002g0186 a0005c0028t0002g0194	4	224	0.0179	-265	c.225 others(19): Show c.2252-2858_2252-2594del		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13						chr22	TogoVar
TUBGCP2_chr10_133273635_133313872	133292080	CCTCCGTG others(258): Show CCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCC CGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCC GTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGC CCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCC CTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGA GAGGGCAGCATGCACA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	284	0.0035	-265	c.121 others(17): Show c.1214+154_1214+418del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
TWIST2_chr2_238843085_238915534	238903659	TNNNNNNN others(258): Show TNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNN	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00544.hp1 others(55): Show HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00673.hp1 HG01167.hp2 HG01192.hp1 HG01981.hp2 HG02015.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02300.hp2 HG02523.hp1 HG02897.hp1 HG02970.hp2 HG03130.hp2 NA18906.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18961.hp1 NA18961.hp2 NA18968.hp2 NA18971.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp2 NA18993.hp1 NA18994.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0023 others(55): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0151 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0207 a0001c0001t0001g0215 a0001c0001t0001g0240 a0001c0001t0001g0247 a0001c0001t0001g0270 a0001c0001t0001g0323 a0001c0001t0002g0054 a0001c0001t0002g0076 a0001c0001t0002g0181 a0001c0001t0002g0291 a0001c0001t0003g0276	58	338	0.1716	-265	c.36 others(17): Show c.36-6182_*36-5918del		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1						chr2	TogoVar
ZNF484_chr9_92839182_92883038	92872231	CAAAAAAA others(258): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAGTTAAAGCAGAGGCAATAAAAGA GAGTCAGAGAAAGATGCGACTACAAAAGAGTGGTCAGAGAGATACAATGT TGATGGCTTTGAAGTTGGAGGAAAGGGCCACAAACTGAAATGTGAGCACC CACTAGAAGCTAGAAAAGTCAGAAAATAGAAACAGATTCTTTCAGGTTGC GGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAA TCTCTGCCTCAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02155.hp1 NA18977.hp2 others(4): Show HG02056.hp2 HG02155.hp1 NA18977.hp2 NA18982.hp1 NA18997.hp2 NA19058.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0001g0163 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0001g0163 a0001c0001t0001g0164	7	402	0.0174	-265	c.15+ others(15): Show c.15+2519_15+2783del		ZNF484	ENSG00000127081.14	transcript	ENST00000375495.8	protein_coding	2/4						chr9	TogoVar
ABCG8_chr2_43833971_43887988	43871162	ATCTATCT others(257): Show ATCTATCTGGATAGAACTCTCCCCATCTGGATTGAACTCTCACTATCTGG ATAGAATTCTCACCCTCTGGATAGAACTCTCACTTTCTGGATAGAATTCT CACCCTCTGGATAGAACTCTCACTATCTGGATAGAATTCTCACTCTCTGG ATAGAACTCTCACTCTCTGGATAGAACTCTCACTATCTGGATAGAATGCT CACTCTCTGGATAGAACTCTCACTATCTGGATAGAATTCTCACCCTCTGG ATAGAACTGTCACTG	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0011 a0002c0004t0011	a0002c0004t0011g0185 a0002c0004t0011g0188 a0002c0004t0011g0225 a0002c0004t0011g0185 a0002c0004t0011g0188 a0002c0004t0011g0225	3	318	0.0094	-264	c.965 others(15): Show c.965-773_965-510del		ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
ADARB2_chr10_1172313_1742525	1236991	TGCCTCCC others(257): Show TGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTG CCTCCCGGTGTTTACTCCCCTCTGCCTCCGGTGGTTAATTCCCTCTTGCC TCCGGTGGTTAACTCCCCCCTGCCTCCGGTTGTTAACTCCCCCCTGCCTC CGGGTGTTAACTCCCCTCTCCCTCCGGGTGTTAACTCCCCCCTGCCTCCG GGTGTTAACTCCCCTCTCCCTCCGGTGTTTACTCCCCTCTGCCTCCCGGT GTTTACTCCCCTCTG	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0066 a0002c0002t0002g0066	1	106	0.0094	-264	c.136 others(19): Show c.1362-3410_1362-3147del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237013	TCTGCCTC others(257): Show TCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTC TGCCTCCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCCCCTG CCTCCGGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCC TCCGGGTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCCTCCC GGTGTTTACTCCCCC	T T	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp2 NA18989.hp1 NA18989.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0035 a0002c0002t0062 a0001c0001t0035 a0002c0002t0062	a0001c0001t0035g0079 a0002c0002t0062g0093 a0001c0001t0035g0079 a0002c0002t0062g0093	2	106	0.0189	-264	c.136 others(19): Show c.1362-3432_1362-3169del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239423	TTTACTCC others(257): Show TTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTT TACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTA CTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACT CCCCCCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCC TCTGCCTCCCGGTGC	T T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0055 a0001c0001t0009g0055	1	106	0.0094	-264	c.136 others(19): Show c.1361+2444_1361+2707del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1542494	TCCAGACC others(257): Show TCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGTCCAGA CCCCACTCAGACGCAGTTCGGACCCTGGATCACAGCCGTCCAGACCCCAC TCAGACGCAGTTCGGACCCTGGATCACAGCCGCCCAGACCCCACTCAGAC GCAGTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTT CGGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCGGACC CCGGATCACAGCCGC	T T	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	106	0.0094	-264	c.101 others(21): Show c.101-163598_101-163335del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADGRL3_chr4_61195326_62083335	61847604	TAATATAT others(257): Show TAATATATTATATATATAATATAAAATATATTATATATATAATATAAAAT ATATTATATATATAATATAAAATATATTATATATATAATATAAAATATAT TATATATATAATATAAAATATATTATATATATAATACAAAATATATTATA TATAATACAAAATATATATATAATACAAAATATATTATATATATAATATA AAATATATTATATATATATAATATAAAATATATATATAATATAAAATATA TTATATATAATATAA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0057 a0001c0001t0029g0057	1	58	0.0172	-264	c.148 others(21): Show c.1480+33731_1480+33994del		ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
AK8_chr9_132720578_132883284	132821805	GTGTATGT others(257): Show GTGTATGTATATACAAATATATACATATATGTGTATGTATATACAAATAT ATACATATATGTGTATGTATATACAAATATATACATATATGTGTATGTAT ATACAAATATATACATATATGTGTATGTATATACAAATATATACATATAT GTGTATGTATATACAAATATATACATATATGTGTATGTATATACAAATAT ATACATATATGTGTATGTATATACAAATATATACATATATGTGTATGTAT ATACAAATATATACA	G G	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	266	0.0038	-264	c.889 others(17): Show c.889+1136_889+1399del		AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	9/12						chr9	TogoVar
AMFR_chr16_56356452_56430545	56397703	AATCATTT others(257): Show AATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCAT TTATAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAA TATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATATA AATGTATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTA TCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCATTT ATAATATATAAATGT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG02698.hp1 HG02280.hp2 HG02451.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0003g0272 a0001c0001t0005g0036 a0001c0001t0006g0027 a0001c0001t0003g0272 a0001c0001t0005g0036 a0001c0001t0006g0027	3	356	0.0084	-264	c.108 others(19): Show c.1085+3766_1085+4029del		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13						chr16	TogoVar
ARHGAP24_chr4_85470150_86007666	85875058	TTTGTTTT others(257): Show TTTGTTTTATATATTATATTATATATAATATATTTATCTTATATATTATA TTATATATAATATATTTATCTTATATATTATATTATATATAATATATTTA TCTTATATATTATATTATATATAATATATTTATCTTATATATTATATTAT ATATAATATATTTATCTTATATATTATATTATATATAATATATTTATCTT ATATATTATATTATATATAATATATTTATCTTATATATTATATTATATAT AATATATTTATCTTA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0058 a0001c0007t0004g0058	1	108	0.0093	-264	c.269 others(19): Show c.269-48588_269-48325del		ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP24_chr4_85470150_86007666	85875089	ATTTATCT others(257): Show ATTTATCTTATATATTATATTATATATAATATATTTATCTTATATATTAT ATTATATATAATATATTTATCTTATATATTATATTATATATAATATATTT ATCTTATATATTATATTATATATAATATATTTATCTTATATATTATATTA TATATAATATATTTATCTTATATATTATATTATATATAATATATTTATCT TATATATTATATTATATATAATATATTTATCTTATATATTATATTATATA TAATATATTTATCTT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03492.hp1 HG03654.hp2 others(2): Show HG02080.hp1 HG03492.hp1 HG03654.hp2 HG03942.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0012 a0001c0002t0002g0028 a0001c0002t0002g0076 others(2): Show a0001c0001t0001g0012 a0001c0002t0002g0028 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0096	5	108	0.0463	-264	c.269 others(19): Show c.269-48558_269-48295del		ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	3/9						chr4	TogoVar
BCL11A_chr2_60452194_60558654	60467314	GATGGTGG others(257): Show GATGGTGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGGTGA TGGTGGTGATGATGGTGATGGTACTGGTGGTGATGGTGATGGTGATGGTA CTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGGT GATGGTGGTGGTAATGGTGGTGGTGGTGATGGTGGTGATGATGGTGATGG TACTGGTGGTGATGGTGATGGTGATGGTACTGGTGATGGTGGTGGTGGTA GTGATGGTGGTGGTA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0111 a0001c0001t0007g0111	1	262	0.0038	-264	c.487 others(17): Show c.487+1154_487+1417del		BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3						chr2	TogoVar
BMERB1_chr16_15429588_15593259	15573787	CGGAAAGA others(257): Show CGGAAAGAGGTTTCATTGACTCACAGTTCGGCATAGCTGGGGAAGCCTCA GGAAACTTACAATCATGGTGGAAGGTCAAGGAGAAGCAAGGCACTCTCTT CACAAGGTGACAGGAAGGAGAATGAACGCAGGAGGAACTGCCCAACCCTT ATAAAACCATCAGATCTCATGGAACTCACTCACTATCATAATTCCTAATC TTCTGGTTAATTTGTTAAGTCCATTTTCACACTGCTGTCAAGAACTGCCC AAGACTGGGTATAAA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02040.hp2 HG00597.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0209 a0001c0001t0002g0183 a0001c0001t0002g0209	2	291	0.0069	-264	c.304 others(17): Show c.304+5807_304+6070del		BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
CABLES1_chr18_23130485_23265470	23218348	CCTCCCGC others(257): Show CCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGT TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGC ATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCAT CCTCACTTGCCCTGG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0133 a0001c0001t0026g0133	1	278	0.0036	-264	c.108 others(19): Show c.1088+4318_1088+4581del		CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CACNA1B_chr9_137872782_138129619	138113580	CGGGAGAC others(257): Show CGGGAGACGTGAGGGAGTGCCGGGAGGTGCCCAACTCCATCTTGTGGGAG ACGTGAGGGAGCGCAGGAAGGTGCCCAACTCCTCCTTGTGGGAGACGTGA GGGAGCGCAGGAAGGTGCCCAACTGCATCTTGCGGGAGACGTGAGGGAGT GCCGGGAGGTGCCCAACTCCTCCTTGTGGGAGACGTGAGGGAGCGCAGGA AGGTGCCCAACTCCATCTTGTGGGAGACGTGAGGGAGCGCCGGGAGGTGC CCAACTCCATCTTGT	C C	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0154 a0003c0006t0002g0154	1	248	0.0040	-264	c.553 others(17): Show c.5537-759_5537-496del		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	40/46					INFO_REALIGN_3_PRIME	chr9	TogoVar
CASZ1_chr1_10631604_10801646	10744344	CGGCACCA others(257): Show CGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGG GCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGC ACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCAC CACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCA CGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACG AGCAGGCATGTCCTG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0019 a0001c0008t0019	a0001c0008t0019g0014 a0001c0008t0019g0014	1	236	0.0042	-264	c.-77 others(19): Show c.-77+16093_-77+16356del		CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20						chr1	TogoVar

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Search Results (Total: 10000 hits)