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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC66A2_chr18_79897420_79956653	79921316	GGAGAGGT others(375): Show GGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAA GGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGA GAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACC GAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGT CAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGG AGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGAGACAGG AACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGA GGTCAAGCTCAGTGGGGAGAGATGGAACCGAGT	G G	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	352	0.0028	-382	c.392 others(17): Show c.392-2298_392-1917del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921326	GGGTCAGA others(375): Show GGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAG GAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAA CCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGG TCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGT GAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACA GGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGAGACAGGAACCGAGGGA GAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGCTC AGTGGGGAGAGATGGAACCGAGTGAGAGGTCAA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0197 a0001c0001t0009g0197	1	352	0.0028	-382	c.392 others(17): Show c.392-2308_392-1927del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
TMEM255A_chrX_120253650_120316461	120296757	ATTATATA others(375): Show ATTATATATATTAAATATATTATATATCATATATAATATATATGATATAT AATATATATCATATATAATATATATGATATATAATATATATCATATATAA TATATAATATATTATATATCATATATATTATATATGATATATATAATATT ATATATATATTATATATAATATTATATATATAATATTATATATATATTAT ATATAATATATAATATTATATATATTATATATATATTATATATAATATAT AATATTATATATATTATATATATATAATATATAATATATAATATAATATA TATAATATTATATATATTATATTATATTATAATATATATAATATTATATA TATTATATTATATTATAATATATAATATTATAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01167.hp1 HG01169.hp2 others(4): Show HG01099.hp1 HG01167.hp1 HG01169.hp2 HG02257.hp2 HG02559.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0134 a0001c0001t0002g0001 a0001c0001t0002g0132 others(3): Show a0001c0001t0001g0134 a0001c0001t0002g0001 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0187	7	303	0.0231	-382	c.202 others(17): Show c.202-3088_202-2707del	TMEM255A	ENSG00000125355.16	transcript	ENST00000371369.9	protein_coding	2/8			chrX	TogoVar
TMEM87B_chr2_112050269_112124314	112114115	ACTCTACA others(375): Show ACTCTACAGAAAGATGTAGCATTACAGAAAGATTCATAACTCTACAGAAA GATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTA CAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTACAGAAAGATTCA TAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGA AAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCAT TACAGAAAGATTCATAACTCTACAGAAAGACGTAGCATTACAGAAAGATT CATAACTCTACAGAAAGACGTAGCATTACAGAAAGATTCATAACTCTACA GAAAGATGTAGCATTACAGAAAGATTCATAACT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0127 a0001c0001t0005g0127	1	316	0.0032	-382	c.160 others(19): Show c.1608+1189_1608+1570del	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABR_chr17_998519_1184981	1063867	GAACTGAG others(374): Show GAACTGAGGGCTATGCATGTTCCTCCAGACACTGTTGTTATGTGAACTGA GGGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTAT GCATGTTCCTCTAGACACTGTTATGTGAACTGAGGGTTATGCATGTTCCT CTAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACA CTGTTGTTACGTGAACTGAGGGCTATACATGTTCCTCTAGACACTGTTGT TATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTATGTGAACT GAGGGCTATGCATGTTCCTCTAGACACTGTTGTTACGTGAACTGAGGGCT ATGCATGTTCCTCTAGACGCTGCTGTTATGTA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00738.hp1 others(9): Show HG00323.hp2 HG00642.hp1 HG00738.hp1 HG01358.hp1 HG01978.hp1 HG02615.hp1 HG02683.hp2 HG03098.hp2 HG03490.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0031 a0001c0001t0075	a0001c0001t0001g0058 a0001c0001t0001g0071 a0001c0001t0001g0074 others(9): Show a0001c0001t0001g0058 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0196 a0001c0001t0002g0085 a0001c0001t0003g0060 a0001c0001t0006g0216 a0001c0001t0008g0024 a0001c0001t0008g0033 a0001c0001t0011g0167 a0001c0001t0031g0241 a0001c0001t0075g0156	12	337	0.0356	-381	c.118 others(19): Show c.1182+2829_1182+3209del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
B4GALNT4_chr11_364499_387117	374684	CAGGGAGG others(374): Show CAGGGAGGGAGGGAGGGGGAAGGGAGGGAGGGGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGTG GAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGA	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	184	0.0054	-381	c.784 others(15): Show c.784-765_784-385del	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BAIAP2_chr17_81030151_81122434	81053911	GGGGTGGG others(374): Show GGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGGCCCCTTGG GGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCTGGCCCCAAGGGT GGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGGCCCCGTGGGGTGG GAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCTGGCCCCAAGGGTGGGAG CTGCCTCCTGAGCTGGTAGAACTGTGCCCGGACCCCGTGGGGTGGGAGCT GCCTCCTGAGCTGGTAGAACTGTGCCCGGGCCCCGTGGGGTGGGAGCTGC CTCCTGAGCTGGTAGAACTGTGCCCGGGCCCCTTGGGGTGGGAGCTGCCT CCTGAGCTGGTAGAACTGTGCCCTGGCCCCAA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03017.hp1 HG02723.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0014 a0001c0001t0004g0047 a0001c0001t0003g0014 a0001c0001t0004g0047	2	376	0.0053	-381	c.130 others(15): Show c.130+214_130+594del	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DDX51_chr12_132131594_132149319	132135743	CCTCCCGA others(374): Show CCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC CGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCC CACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTG CCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCC TCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAG TGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCC GCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTC CCCGAGTGTGCCCACGGTGCCCGCTCCTCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0005 a0002c0002t0003g0005	1	334	0.0030	-381	c.31 others(11): Show c.3148_*3528del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		850		chr12	TogoVar
EHMT1_chr9_137614005_137841127	137818778	ACTTAGGG others(374): Show ACTTAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGC CATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGA CCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGC CGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTTAGGGGC GCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGA GACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAG GCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGG GCGCCGTGTACCGAGACCGTAGAGAGGCCGAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	170	0.0059	-381	c.354 others(18): Show c.3540+641_3540+1021del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26			chr9	TogoVar
EIF3B_chr7_2349827_2385745	2377631	CGTGTTCT others(374): Show CGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGC GAGCACTGCTGGGATGCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAG GAAGGAGCAGGCGCGAGCTCTCCTGGGATGCT	C C	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	384	0.0026	-381	c.215 others(17): Show c.2154+584_2155-650del	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377746	GCTCCTGG others(374): Show GCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAG GAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGG TGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTG TGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAGCACTGCTGGGAT GCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCTCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCACGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGCGAGCT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	384	0.0026	-381	c.215 others(17): Show c.2154+681_2155-553del	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
ERICH1_chr8_659200_736224	675679	GTGAGGAC others(374): Show GTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GGCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGA CGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACA GAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGA GGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTC GTGAGGACAGAGACGCGGCGCCCCCCCGGCGAGGACAGAGACGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18612.hp1 NA18950.hp1 others(5): Show HG03831.hp1 NA18612.hp1 NA18950.hp1 NA18962.hp2 NA18969.hp1 NA18970.hp1 NA18983.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0153 a0001c0001t0001g0168 a0001c0001t0001g0173 others(5): Show a0001c0001t0001g0153 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0002t0001g0074	8	378	0.0212	-381	c.305 others(17): Show c.305-2013_305-1633del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675706	GTGAGGAC others(374): Show GTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGG CGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGG CGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGAC AGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGA GGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCCC GGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0258	1	378	0.0027	-381	c.305 others(17): Show c.305-2040_305-1660del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ESYT2_chr7_158725997_158834509	158729274	AGCAGGTG others(374): Show AGCAGGTGTGGAGATAGTGGGGGAAGAGCAAGCGTGGAGGTGTTGGGAGA AGCAAGTGTGGATGTGCAAGCGTGGAGGTGGGGGGCTTGGCGCAAGCGTG GAGGTGCTGGGGGGAGGAGCAAGGTGGAGGTTGGGACTGGAGCAAATGTG GAGGTGCTGGGGGGAGGAGCAGGTGTGGAGATAGTGGGGGAGGAGCAAGC GTGGAGGTGCTGGGGGGAGGAGCAGGTGTGGAGATAGTGGGGGAGGAGCA AGCGTGGAGGCGGGAGGGTTGGAGCAGGTGTGGAGGTGCTGTGGAAGAGG GGCAAGTGAGGATGTGCTGGCGGGGAGGAGCAAGTGTGGAGGTGGGGGCG TTGGAGCAGGTATGGAGGTGCTGGGGAGAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18978.hp2 NA18988.hp2 others(5): Show NA18972.hp1 NA18978.hp2 NA18988.hp2 NA18993.hp1 NA19009.hp1 NA19010.hp2 NA19068.hp1 NA19090.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0026 a0002c0002 a0006c0026	a0002c0002t0002 a0006c0026t0002 a0002c0002t0002 a0006c0026t0002	a0002c0002t0002g0254 a0002c0002t0002g0256 a0002c0002t0002g0257 others(5): Show a0002c0002t0002g0254 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0002g0292 a0006c0026t0002g0246	8	370	0.0216	-381	c.45 others(11): Show c.4552_*4932del	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1722		chr7	TogoVar
F10_chr13_113117799_113154529	113142395	AAAAAATT others(374): Show AAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAGTCCCAGCTGCTCAG GAGGCTGAGGCAAGAGAATGGCGTGAACCTGGAAGGCGGAGCTTGCACTG AGCACTGAGCCGAGATTGCGCCACTGCGCTCCAGCCTGGGCAACAGAATG AGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAATCAAAAGGCAAATGTG ATGTGTGAAAATAAAATTACATAATCTACTTTGTAGTGCAAAAAGTTCAG GCTGGGCAAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAG GTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATG GTGAAACCCTGTCTCTATAAAAAAAAAAATAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp1 HG01175.hp1 others(3): Show HG00639.hp2 HG01109.hp1 HG01175.hp1 HG01433.hp1 HG01981.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0038 a0001c0001t0001g0039 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0002t0001g0037	6	412	0.0146	-381	c.502 others(17): Show c.502+1351_503-1070del	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GALNT9_chr12_132191372_132334589	132231406	CACACACT others(374): Show CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTACTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACT CGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCG ATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGAT GGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGG GGTGACAGGGACAGCGTGGAGCCCCTAGTGCT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	183	0.0055	-381	c.107 others(21): Show c.1077+16123_1077+16503del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132231642	GTGCCACA others(374): Show GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGC CACACACTCGATGGGGTGACAGGGACAGCGTGGAGCCCCTAGTGCTACAC ACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACAC TCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTC GATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGA TGGGGCGACAGAGGAGACAGCATGGAGTCCCTAGTGCCACACACTCGATG GGGCGACAGAGGAGACAGTGTGGAGTCCCTAC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0146 a0001c0014t0003g0146	1	183	0.0055	-381	c.107 others(21): Show c.1077+15887_1077+16267del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234784	AGACAGCG others(374): Show AGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGCATGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAG CGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTG TGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTG GAGTCCCTGGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGA GTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGT CCCTAGTGCCACACACTCGATGGGGTGACAGG	A A	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0018 a0001c0005t0001g0018	1	183	0.0055	-381	c.107 others(21): Show c.1077+12745_1077+13125del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
LOC93622_chr4_6669075_6681047	6680666	AGAAATGG others(374): Show AGAAATGGGGTGACTGCAGAGGTAGCTGAAGGGAGGGTGTCTTTCTGTGT GTGACCATGTGTGATGTGGACAGCTGTACCGCCTGACGGGACTGACCTGG TGCAGCAGGACAGATGGGATGCAGGTGGCGCAGCTGCAGGCAGCAGGTGG GGTGGCCCCTGCAGCTCCCCCTGTAGGTGCCTGCCTTCCTCTGCATCTTG CAGAGTCCCTCCTCTGGTGGTCAGCCAGTTCGCATAATCCCATCCCCAAC TTAATTCGATGAAGCCAGTAGCCAGAAGTGCACCTGCACTGACACTTCAT TTCTAGAACATTTCCTTTGGGAACATTCCAACCACGACCCAAATGCCGCC CCTCCAAGCCCCCAGCCCTCTCCCTGCTTTCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00673.hp2 HG01106.hp2 others(66): Show HG00544.hp1 HG00673.hp2 HG01106.hp2 HG01168.hp2 HG01175.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01433.hp2 HG01891.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02071.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02293.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG03041.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03927.hp1 HG04184.hp1 NA18522.hp1 NA18906.hp1 NA18941.hp1 NA18944.hp1 NA18967.hp1 NA18972.hp1 NA18973.hp1 NA18979.hp2 NA18985.hp2 NA18988.hp1 NA18990.hp2 NA18993.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19060.hp1 NA19068.hp1 NA19080.hp2 NA19081.hp2 NA19085.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0005 a0001c0001 a0001c0004 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0018 a0001c0001t0019 a0001c0001t0030 a0001c0004t0007 a0003c0005t0004	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(7): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0007g0000 a0001c0001t0008g0000 a0001c0001t0018g0000 a0001c0001t0019g0000 a0001c0001t0030g0000 a0001c0004t0007g0000 a0003c0005t0004g0000	69	462	0.1494	-381	c.60 others(11): Show c.6095_*6475del	LOC93622	ENSG00000170846.17	transcript	ENST00000635031.2	protein_coding		4620		chr4	TogoVar
MARCHF4_chr2_216252865_216377483	216293623	AAGCCAAA others(374): Show AAGCCAAACCCTCCAAACTATGTTTTTCATTTTCACAATAATTATTTTGT TCCTACAGTGCTTTTCTCCCTATAATTTTACTGGTATAAGACAAATGTAC CTATTTCCTCTAACTGCCTCTAAATTTACTCAACCAGTACTAGAAAGAAG AACTTAGCCTCACAATAATTGAATTTAAATAACATCCAATTCTATGAAGT CAAACATGATCTGCATAATAAACAAACCAAGCTATATGGGGTCTGGCGGA AAAAAAGGTCACGTTTAATGTGTACATTTATAATCATATCTGTATTTCTA ATGACCTAAATGTGTAATATACTGTCCGTTTGTCTTTCTGCATAACTCAT CATTACCATCACCATTGTTACCAAACAGCTAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp1 others(49): Show HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp2 HG01993.hp1 HG02015.hp2 HG02040.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02273.hp1 HG02293.hp1 HG02735.hp2 HG02738.hp1 HG03017.hp2 HG03139.hp1 HG03927.hp1 NA18941.hp1 NA18945.hp2 NA18946.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18979.hp1 NA18983.hp1 NA18991.hp1 NA19043.hp2 NA19064.hp1 NA19074.hp2 NA19079.hp1 NA19090.hp2 NA19091.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0009 a0001c0001 a0001c0002 a0005c0009	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(14): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0002t0016 a0001c0002t0017 a0001c0002t0018 a0001c0002t0020 a0001c0002t0031 a0001c0002t0036 a0001c0002t0043 a0001c0002t0048 a0001c0002t0053 a0005c0009t0002	a0001c0001t0001g0086 a0001c0002t0002g0053 a0001c0002t0002g0061 others(49): Show a0001c0001t0001g0086 a0001c0002t0002g0053 a0001c0002t0002g0061 a0001c0002t0003g0048 a0001c0002t0003g0051 a0001c0002t0003g0052 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0060 a0001c0002t0003g0079 a0001c0002t0003g0087 a0001c0002t0003g0106 a0001c0002t0003g0117 a0001c0002t0003g0119 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0131 a0001c0002t0003g0134 a0001c0002t0003g0135 a0001c0002t0003g0136 a0001c0002t0003g0137 a0001c0002t0003g0144 a0001c0002t0003g0224 a0001c0002t0003g0235 a0001c0002t0003g0245 a0001c0002t0003g0285 a0001c0002t0003g0289 a0001c0002t0003g0298 a0001c0002t0003g0301 a0001c0002t0005g0074 a0001c0002t0005g0148 a0001c0002t0006g0186 a0001c0002t0009g0126 a0001c0002t0010g0019 a0001c0002t0010g0021 a0001c0002t0016g0044 a0001c0002t0016g0062 a0001c0002t0016g0094 a0001c0002t0016g0096 a0001c0002t0017g0016 a0001c0002t0017g0023 a0001c0002t0017g0029 a0001c0002t0018g0015 a0001c0002t0020g0083 a0001c0002t0020g0084 a0001c0002t0031g0010 a0001c0002t0036g0027 a0001c0002t0043g0085 a0001c0002t0048g0092 a0001c0002t0053g0324 a0005c0009t0002g0220	52	330	0.1576	-381	c.517 others(18): Show c.517-10275_517-9895del	MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3			chr2	TogoVar
MLPH_chr2_237482251_237560322	237544807	GGGACAGT others(374): Show GGGACAGTGGTGAGTGGGGGGACAGTGTGTGGGGGGACAGTGGTGAGTTG GGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTAATGAGTC GGGGGACAGTGGTGAGTGGGCACAGTAGTGAGTGGGGGGACAGTGGTGAG TGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAATGGGGACAGTAGTGAG TGGGGGACCGTGGTGAGTGGGGGCACAGTGGTGAGTGGGGACAGTGGGTG GAGGGGGCACTATTGGTAGGGGGGACAATTATTGGGGGGGGGCACTAATT GTGAGGGGGGACCAGTGTTGAGTGGGGGAATAGTTATGAGTGGGGACAGT GGTGAGTGGGGGGACAGTGGTGAGTGGAGGGC	G G	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0019 a0019	a0019c0019 a0019c0019	a0019c0019t0002 a0019c0019t0002	a0019c0019t0002g0212 a0019c0019t0002g0212	1	286	0.0035	-381	c.154 others(19): Show c.1540-1798_1540-1418del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
OPA3_chr19_45541281_45589802	45572112	AATATATA others(374): Show AATATATATTGATATATATATATATTTTGTATTTTTAGTAGAGACGGGGT TTCTCCATGTTGGTCAGGTTGGTCTGATATATATATGAGATATATATATA TCTCTCATATATATCGATATATATGATTATATATCTCATATAAATAAAAA ATAAAAATATATATAGTATATATATCGATATATATCTCATATATATCGAC ATATATGAGATATATATCGATATATATCTCATATATATCGACATATATGA GATATATATCGATATATATCTCATATATATCAACATATGAGATTATCGAT ATATATCGATATATATCATGATATATGTATATCAATATATGATATATATC ATATATCATATAATAATCATATATATCGAGAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0127 a0001c0001t0021g0127	1	398	0.0025	-381	c.142 others(19): Show c.142+12130_142+12510del	OPA3	ENSG00000125741.6	transcript	ENST00000263275.5	protein_coding	1/1			chr19	TogoVar
OSBPL2_chr20_62233521_62301183	62270382	ACCTCTCT others(374): Show ACCTCTCTGGGTCCTCTCCTTGTCCCTCTCTGGCCTCTCTGGGTCCTCTC CTTGTCCCTCTCTGGCCTCTCTGGGTCCTCTCCTTGTCCCTCTCTGGGTC CTCTCCTTGTCCCTCTCTGGCCTCTCTGGGTCCTCTCCTTGTCCCTCTCT GGGTCCTCTCCTTGTCCCTCCTGGCCTCTCTGGGTCCTCTCCTTGTCCCT CTCTGGGTCCTCTCCTTGTCCCTCTCTGGCCTCTCTGGGTCCTCTCTGAC CTCTCTGGGTCCTCTCCTTGTCCCTCTCTGGGTCCTCTCCTTGTCCCTCT CTGGGTCCTCTCCTTGTCCCTCTCTGGCCTCTCTGGGTCCTCTCCTTGTC CCTCTCTGGCCTCTCTGGGTCCTCTCCTTGTC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	348	0.0029	-381	c.259 others(17): Show c.259-1591_259-1211del	OSBPL2	ENSG00000130703.17	transcript	ENST00000313733.9	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
POTEB3_chr15_21400401_21445499	21445118	TGTTCTGT others(374): Show TGTTCTGTAAAGGAAGCATAAACTCATTTATTGCAACAAATGCAACAATT TATTTCATTCCTCAGATTATTGATCCTGATATAAATAAAACTGTTCAGAA CTTGCACAGAGATATTTAAACGAACAAAGAAACAAAAAATCTAGGGAAGA AGTGAAGAAAAGAATGCTTTTTAAATTACTTAATCATTGTTGATGGACTG ACAACATCCAACTTACATCTCCTGAATTAAACCTGATATTTTCTTGGAGA GTAGTGAGGAGTAGTTGAGGGTAGATAGGAAAGAGAGTGTATTTTGAGAA ATGTAAAATTTAGAGAAGCTTAATTTAAACACTCCCTGTGTGTCAAAGAG CTATTAAATAAAATTTTCATGATTTTAATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG02145.hp1 NA18747.hp2 others(3): Show HG01346.hp2 HG02145.hp1 NA18747.hp2 NA18983.hp2 NA18990.hp1 NA19068.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0029 a0004c0004t0003 a0004c0004t0029	a0004c0004t0003g0048 a0004c0004t0003g0049 a0004c0004t0003g0050 others(3): Show a0004c0004t0003g0048 a0004c0004t0003g0049 a0004c0004t0003g0050 a0004c0004t0003g0051 a0004c0004t0003g0052 a0004c0004t0029g0047	6	54	0.1111	-381	c.-54 others(11): Show c.-5488_-5108del	POTEB3	ENSG00000278522.5	transcript	ENST00000611217.5	protein_coding		4620		chr15	TogoVar
PRKAA1_chr5_40754389_40803374	40800731	ACCCCTCT others(374): Show ACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCTATCCAGGAGATGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCTGGGAGGGTGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC TATCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCTCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCTATCCAGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01884.hp1 HG02622.hp1 others(8): Show HG01167.hp1 HG01884.hp1 HG02622.hp1 HG02630.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03130.hp2 HG03209.hp2 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0087 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0105	11	402	0.0274	-381	c.-29 others(11): Show c.-2923_-2543del	PRKAA1	ENSG00000132356.12	transcript	ENST00000397128.7	protein_coding		2358		chr5	TogoVar
PRKCZ_chr1_2045411_2190395	2123540	TGGTGGTT others(374): Show TGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACG GTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGT CACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCACGGCGGTGGTTA GGGTCACGGTGGTAGTTAGGGTGGTGGTGGTTAGGGTCACGGTGGTGGTT AGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGCGGT GGTTAGGGTTGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGG TGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGCGGTTAGGGTCACGGCG GCGGTTAGGGTCACGGCGGCGGTTAGGGTCAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	286	0.0035	-381	c.335 others(19): Show c.335-11719_335-11339del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARDH_chr9_133658560_133743352	133668854	ACCCTCCA others(374): Show ACCCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCA CCCTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACC TTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCCTCACCCT CCCTCTCCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTTACCCTC CCTCTCCCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCC CTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCT CTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCT CCCTCACCCTCCCTCTCCCTTACCCTCCCTCT	A A	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0163 a0002c0002t0003g0163	1	262	0.0038	-381	c.249 others(19): Show c.2495+1349_2495+1729del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCUBE1_chr22_43192280_43348372	43281080	GGCCACCC others(374): Show GGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGC CACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCAT CCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCAC CCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTACCCT GTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTCTTTGGCCACCCTCC TGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGT CATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCAC CTCCCTTGGCCACCCTCCTGTCATCTCCCTCA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0027 a0001c0004t0027	a0001c0004t0027g0016 a0001c0004t0027g0016	1	280	0.0036	-381	c.484 others(17): Show c.484+9585_484+9965del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
STK32B_chr4_5046480_5505989	5316363	TATTATAT others(374): Show TATTATATATATTAATTATATATATAATATATTACATATATAATATATAA TATATATTACATATATAATATATAATATATATTACATATATAATATATAA TATATATTACATATATAATATATAATATATATTACATATATAATATATAA TATATATTACATATATAATATATAATATATATTACATATATAATATATAA TATATATTACATATATAATATATAATATATATTACATATATAATATATAT TATATATTATATATATAATATATAATATATTATATATATAATATATAATA TATATTATATATATAATATAATATAATATATATCATATTATAATATATAA TATAATAATATATTATATAATATCTTATATAA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 NA18522.hp2 HG02280.hp1 HG02572.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0106 a0001c0001t0005g0133 a0001c0001t0005g0168 a0001c0001t0002g0106 a0001c0001t0005g0133 a0001c0001t0005g0168	3	170	0.0177	-381	c.261 others(19): Show c.261-14856_261-14476del	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11			chr4	TogoVar
TCF3_chr19_1604292_1657615	1628419	GCTCACAG others(374): Show GCTCACAGGGGGTGAGGCGGAAAGGGGACAGCAGAGCTCACAGGGGATGA GGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACA GCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGG TGGGGCAGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGG ACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGG GGGTGAGGCGGAAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAG GGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACAGGGGATGAGGCGGGAAGGGGACAGCAGAA	G G	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0326 a0001c0003t0005g0326	1	352	0.0028	-381	c.299 others(16): Show c.299-1374_299-994del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TUBGCP2_chr10_133273635_133313872	133291805	TCCGTGTC others(374): Show TCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTG TGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGT GTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTCCGTGT CCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCACCC TCCGTGTCCCCCATGTCCCTCTGTGTCCCTCCGTGTCCCTCCGTGTCCCC CATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTCCCTCCGTGTCCCTCC GTGTCCCCCATGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTA CGGGAGAGGGCAGCATGCACACTCCGTGTCCC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	284	0.0035	-381	c.121 others(17): Show c.1214+313_1214+693del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
UCKL1_chr20_63934829_63961416	63960306	AACACAGC others(374): Show AACACAGCCTTCGGGACCAGGCAAGCACCTGCAGGGGGCTGGACACAGCC TTCGGGACCAGGCAAGCACCTGCAGCAGGGCTGGACACAGCCTTCGGGAC CAGGCAAGCACCTGCAGCAGGGCTGGACACAGCCTTCTGGACCAGGCAAG CACCTGCAGCAGGGGGCTGGACACAGCCTTCAGGACCAGGCAGGCACCTG CCGCAGGGCTGGACACAGCCTTCAGGACCAGGCAGGCACCTGCCGCAGGG CTGGACACAGCCTTCAGGACCAGGCAGGCACCTGCCGCAGGGCTGGACAC AGCCTTCAGGACCAGGCAGGCACCTGCCGCAGGGCTGGACACAGCCTTCG GGACCAGGCAGGCACCTGCAGCAGGGGGCTGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG03654.hp1 HG03927.hp1 others(3): Show HG02738.hp2 HG03654.hp1 HG03927.hp1 HG03942.hp1 HG04228.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(3): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019	6	356	0.0169	-381	c.-43 others(11): Show c.-4315_-3935del	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding		3891		chr20	TogoVar
ZNF512B_chr20_63951704_63974930	63960306	AACACAGC others(374): Show AACACAGCCTTCGGGACCAGGCAAGCACCTGCAGGGGGCTGGACACAGCC TTCGGGACCAGGCAAGCACCTGCAGCAGGGCTGGACACAGCCTTCGGGAC CAGGCAAGCACCTGCAGCAGGGCTGGACACAGCCTTCTGGACCAGGCAAG CACCTGCAGCAGGGGGCTGGACACAGCCTTCAGGACCAGGCAGGCACCTG CCGCAGGGCTGGACACAGCCTTCAGGACCAGGCAGGCACCTGCCGCAGGG CTGGACACAGCCTTCAGGACCAGGCAGGCACCTGCCGCAGGGCTGGACAC AGCCTTCAGGACCAGGCAGGCACCTGCCGCAGGGCTGGACACAGCCTTCG GGACCAGGCAGGCACCTGCAGCAGGGGGCTGG	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03654.hp1 HG03927.hp1 others(3): Show HG02738.hp1 HG03654.hp1 HG03927.hp1 HG03942.hp2 HG04228.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0148 a0001c0002t0005g0149 a0001c0002t0005g0150 others(3): Show a0001c0002t0005g0148 a0001c0002t0005g0149 a0001c0002t0005g0150 a0001c0002t0005g0151 a0001c0002t0005g0164 a0001c0002t0005g0165	6	356	0.0169	-381	c.242 others(17): Show c.2428-548_2428-168del	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding	16/16			chr20	TogoVar
ACAP3_chr1_1287391_1312930	1289015	TCCCGTGT others(373): Show TCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0219 a0001c0001t0005g0219	1	295	0.0034	-380	c.41 others(11): Show c.4169_*4548del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3375		chr1	TogoVar
ADARB2_chr10_1172313_1742525	1238557	TCACTCCC others(373): Show TCACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTT ACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGTCTCCCGGTGTTTAC TCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTC CCTGCATCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTC CCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCG GTGTTTACTCCCCTCTCCCTCCCTCTGGCGA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	106	0.0094	-380	c.136 others(19): Show c.1361+3194_1361+3573del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238678	TACTCCCC others(373): Show TACTCCCCCCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCC CTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCC CTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTC CCTCTGGCGATACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTC CCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTCCCTCCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0092 a0001c0001t0059g0092	1	106	0.0094	-380	c.136 others(19): Show c.1361+3073_1361+3452del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ANKRD11_chr16_89262630_89495561	89400374	CGGTCATC others(373): Show CGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCT GCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTTC CCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGG GATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTG CTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCT TCCCTGCGCTGGGGGATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGG GGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATC TGCTGCCCCAGGCTTCCCTGCGCTGGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03041.hp1 HG03453.hp2 others(2): Show HG02109.hp1 HG03041.hp1 HG03453.hp2 HG03471.hp1 NA20129.hp2	a0001 a0002 a0030 a0001 a0002 a0030	a0001c0007 a0002c0002 a0030c0053 a0001c0007 a0002c0002 a0030c0053	a0001c0007t0001 a0002c0002t0001 a0030c0053t0001 a0001c0007t0001 a0002c0002t0001 a0030c0053t0001	a0001c0007t0001g0092 a0002c0002t0001g0064 a0002c0002t0001g0065 others(2): Show a0001c0007t0001g0092 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0124 a0030c0053t0001g0138	5	310	0.0161	-380	c.-60 others(19): Show c.-60+17530_-60+17909del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88954683	CGCCCAAG others(373): Show CGCCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACCCTACCCAAGGCTC CTGACCCCACCCAAGGCTCCTGACCTCAGCCAAGACTCCTGACCCCACCC AAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGAC CTCAGCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCTCAGCCAAGGC TCCTGACCCTACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCAT CCAAGGCTCCTGACCCCAGCCAAGGCTCCTGACCCCAGCCAAGGCTCCTG ACCCCGCCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACTCCACCCAAG GCTCCTGACCTCAGCCAAGGCTCCTGACCCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02451.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0110 a0001c0001t0002g0265 a0001c0001t0001g0110 a0001c0001t0002g0265	2	284	0.0070	-380	c.151 others(19): Show c.151+21594_151+21973del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88955253	CACCCAAG others(373): Show CACCCAAGGCTCCTGACCCCATCCAAGGCTCCTGACCCCAGCCAAGGCTC CTGACCCCAGCCAAGGCTCCTGACCCCGCCCAAGGCTCCTGACCTCACCC AAGGCTCCTGACTCCACCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGAC CCTACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCTCAGCCAAGAC TCCTGACCCCACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCAG CCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCACCCAAGGCTCCTG ACCCCAGCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCACCCAAG GCTCCTGACCCCACCCAAGGCTCCTGACCCT	C C	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	284	0.0035	-380	c.151 others(19): Show c.151+21024_151+21403del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC73_chr11_32597721_32799662	32755926	TCTATATA others(373): Show TCTATATATATATCTCCATATATATATCTATATATATATCTCCATATATA TATCTATATATATATCTCCATATATATATCTATATATATATCTCCATATA TATATCTATATATATATCTCCATATATATATCTATATATATATCTCCATA TATATATCTATATATATATCTCCATATATATATCTATATATATATCTCCA TATATATATCTATATATATATCTCCATATATATATCTATATATATATCTC CATATATATATCTATATATATATCTCCATATATATATCTATATATATATC TCCATATATATATCTATATATATATCTCCATATATATATCTATATATATA TCTCCATATATATATCTATATATATATCTCC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	312	0.0032	-380	c.135 others(17): Show c.135+3803_135+4182del	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17			chr11	TogoVar
CCDC73_chr11_32597721_32799662	32755927	CTATATAT others(373): Show CTATATATATATCTCCATATATATATCTATATATATATCTCCATATATAT ATCTATATATATATCTCCATATATATATCTATATATATATCTCCATATAT ATATCTATATATATATCTCCATATATATATCTATATATATATCTCCATAT ATATATCTATATATATATCTCCATATATATATCTATATATATATCTCCAT ATATATATCTATATATATATCTCCATATATATATCTATATATATATCTCC ATATATATATCTATATATATATCTCCATATATATATCTATATATATATCT CCATATATATATCTATATATATATCTCCATATATATATCTATATATATAT CTCCATATATATATCTATATATATATCTCCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(83): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00642.hp1 HG00642.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02109.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp2 HG04228.hp1 NA18522.hp2 NA18941.hp2 NA18944.hp1 NA18953.hp1 NA18953.hp2 NA18963.hp1 NA18967.hp1 NA18967.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18986.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA19043.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0002c0010 others(2): Show a0001c0001 a0001c0002 a0002c0010 a0004c0009 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0010t0001 a0004c0009t0001 a0005c0006t0001	a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 others(83): Show a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0258 a0001c0002t0001g0014 a0001c0002t0001g0049 a0001c0002t0001g0055 a0002c0010t0001g0292 a0004c0009t0001g0245 a0005c0006t0001g0265	86	312	0.2756	-380	c.135 others(17): Show c.135+3802_135+4181del	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17			chr11	TogoVar
CYP4F11_chr19_15907377_15939529	15931525	CAGAGGAA others(373): Show CAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGG	C C	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0244 a0001c0002t0003g0244	1	386	0.0026	-380	c.199 others(17): Show c.199-2304_199-1925del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931769	GGAATGAG others(373): Show GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0188 a0004c0007t0188	a0004c0007t0188g0206 a0004c0007t0188g0206	1	386	0.0026	-380	c.198 others(17): Show c.198+2062_199-2169del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931861	TGAGGAGA others(373): Show TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGC	T T	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0010 a0002c0001t0010	a0002c0001t0010g0132 a0002c0001t0010g0132	1	386	0.0026	-380	c.198 others(17): Show c.198+1970_199-2261del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931961	TGAGGAGA others(373): Show TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG TGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGC	T T	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0292 a0001c0002t0009g0292	1	386	0.0026	-380	c.198 others(17): Show c.198+1870_198+2249del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932083	AGGAGAGG others(373): Show AGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGTGGGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCG GGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGCGG	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0047 a0003c0003t0047	a0003c0003t0047g0090 a0003c0003t0047g0090	1	386	0.0026	-380	c.198 others(17): Show c.198+1748_198+2127del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932709	GGAATGAG others(373): Show GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0041 a0001c0008t0041	a0001c0008t0041g0372 a0001c0008t0041g0372	1	386	0.0026	-380	c.198 others(17): Show c.198+1122_198+1501del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933449	GGAATGAG others(373): Show GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03225.hp1 HG02809.hp1 HG03225.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0081 a0002c0001t0167 a0002c0001t0081 a0002c0001t0167	a0002c0001t0081g0054 a0002c0001t0167g0379 a0002c0001t0081g0054 a0002c0001t0167g0379	2	386	0.0052	-380	c.198 others(15): Show c.198+382_198+761del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DLGAP2_chr8_732628_1713476	1014356	TGACCAGG others(373): Show TGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTC CATTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCA GGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCACT GTGTGAGACCAGGACAGACGATGCCTCCATTGTGTGTATGACCAGGACAG ACGACGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTG TGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGT GCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGCGTGTGT GACCAGGACAGACGGTGCCTCCACTGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0026 a0002c0004t0026	a0002c0004t0026g0016 a0002c0004t0026g0016	1	40	0.0250	-380	c.73+ others(19): Show c.73+106405_73+106784del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH7_chr9_137549444_137583925	137567138	TCTGTCTG others(373): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	340	0.0029	-380	c.641 others(17): Show c.641-2364_641-1985del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar

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Search Results (Total: 10000 hits)