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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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
DOP1A_chr6_83062671_83173471	83087568	TAGGACTC others(37): Show TAGGACTCTAAAGCCAAATTGCTTGTGTTTAAATCCCTACCTCTC	T T	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	298	0.0034	-44	c.-14 others(63): Show c.-146-9162_-146-9119delAGGACTCTAAAGCCAAATTGCTTGTG TTTAAATCCCTACCTCTC	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	1/38			chr6	TogoVar
DPH1_chr17_2025153_2048898	2035415	GTGGGGGT others(37): Show GTGGGGGTCCGGACGAGAGGGCCCTGCCTGTGGTGGGGAGGTAGT	G G	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	392	0.0026	-44	c.279 others(59): Show c.279-554_279-511delTGGGGGTCCGGACGAGAGGGCCCTGCCTGT GGTGGGGAGGTAGT	DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	3/12			chr17	TogoVar
DPP10_chr2_114437641_115850780	114497258	TGTGTATA others(37): Show TGTGTATACATGTACATGTATACGTGTATACATGTACATGTATAC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01243.hp1 HG02145.hp2 others(4): Show HG01192.hp1 HG01243.hp1 HG02145.hp2 HG02280.hp1 HG02896.hp1 NA19043.hp1 NA20300.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0002 a0001c0004 a0004c0005 others(2): Show a0001c0002 a0001c0004 a0004c0005 a0005c0007 a0005c0008	a0001c0002t0001 a0001c0004t0004 a0004c0005t0003 others(3): Show a0001c0002t0001 a0001c0004t0004 a0004c0005t0003 a0004c0005t0016 a0005c0007t0011 a0005c0008t0010	a0001c0002t0001g0022 a0001c0004t0004g0013 a0001c0004t0004g0043 others(4): Show a0001c0002t0001g0022 a0001c0004t0004g0013 a0001c0004t0004g0043 a0004c0005t0003g0007 a0004c0005t0016g0044 a0005c0007t0011g0052 a0005c0008t0010g0036	7	56	0.1250	-44	c.60+ others(61): Show c.60+54459_60+54502delGTATACGTGTATACATGTACATGTATAC GTGTATACATGTACAT	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP6_chr7_154047398_154899285	154660239	TAGTCATG others(37): Show TAGTCATGGTGAATCACGATGGCGTATTGGCCGTAGTGTTCACGC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00673.hp1 others(19): Show HG00558.hp1 HG00558.hp2 HG00673.hp1 HG00673.hp2 HG01071.hp2 HG01433.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02040.hp1 HG02083.hp2 HG02129.hp1 HG02559.hp1 HG02559.hp2 HG02922.hp2 HG02965.hp1 NA18747.hp1 NA18747.hp2 NA19043.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(15): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0016 a0001c0017 a0001c0020 a0001c0021 a0001c0024 a0001c0025 a0001c0027 a0002c0002 a0002c0005 a0002c0012 a0002c0013 a0002c0023	a0001c0001t0001 a0001c0003t0008 a0001c0006t0002 others(19): Show a0001c0001t0001 a0001c0003t0008 a0001c0006t0002 a0001c0006t0003 a0001c0007t0019 a0001c0010t0010 a0001c0011t0003 a0001c0016t0013 a0001c0017t0020 a0001c0020t0001 a0001c0021t0011 a0001c0024t0028 a0001c0025t0001 a0001c0027t0027 a0002c0002t0002 a0002c0002t0022 a0002c0002t0029 a0002c0005t0015 a0002c0005t0024 a0002c0012t0021 a0002c0013t0018 a0002c0023t0014	a0001c0001t0001g0019 a0001c0003t0008g0025 a0001c0006t0002g0015 others(19): Show a0001c0001t0001g0019 a0001c0003t0008g0025 a0001c0006t0002g0015 a0001c0006t0003g0013 a0001c0007t0019g0037 a0001c0010t0010g0009 a0001c0011t0003g0012 a0001c0016t0013g0014 a0001c0017t0020g0033 a0001c0020t0001g0010 a0001c0021t0011g0022 a0001c0024t0028g0003 a0001c0025t0001g0018 a0001c0027t0027g0007 a0002c0002t0002g0020 a0002c0002t0022g0030 a0002c0002t0029g0002 a0002c0005t0015g0011 a0002c0005t0024g0031 a0002c0012t0021g0035 a0002c0013t0018g0026 a0002c0023t0014g0017	22	38	0.5790	-44	c.681 others(61): Show c.681-9104_681-9061delGATGGCGTATTGGCCGTAGTGTTCACGC AGTCATGGTGAATCAC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154660930	CGTAGTAT others(37): Show CGTAGTATTCATATAGTCATGGTGAATCACCATGGCATATTGGCG	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02083.hp1 HG02486.hp1 HG02040.hp2 HG02083.hp1 HG02486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0019 a0001c0001 a0002c0004 a0002c0019	a0001c0001t0005 a0002c0004t0004 a0002c0019t0001 a0001c0001t0005 a0002c0004t0004 a0002c0019t0001	a0001c0001t0005g0032 a0002c0004t0004g0008 a0002c0019t0001g0021 a0001c0001t0005g0032 a0002c0004t0004g0008 a0002c0019t0001g0021	3	38	0.0790	-44	c.681 others(61): Show c.681-8429_681-8386delGTAGTATTCATATAGTCATGGTGAATCA CCATGGCATATTGGCG	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25			chr7	TogoVar
DPP6_chr7_154047398_154899285	154660931	GTAGTATT others(37): Show GTAGTATTCATATAGTCATGGTGAATCACCATGGCATATTGGCGC	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0025 a0002c0014t0025	a0002c0014t0025g0029 a0002c0014t0025g0029	1	38	0.0263	-44	c.681 others(61): Show c.681-8350_681-8307delATATTGGCGCTAGTATTCATATAGTCAT GGTGAATCACCATGGC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154661332	GTTCATAT others(37): Show GTTCATATAGTCATGGTGAATCACCATGGCGTATTGGCGCTAGTA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0021 a0002c0012t0021	a0002c0012t0021g0035 a0002c0012t0021g0035	1	38	0.0263	-44	c.681 others(61): Show c.681-7990_681-7947delGCTAGTATTCATATAGTCATGGTGAATC ACCATGGCGTATTGGC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154661420	GTTCATAT others(37): Show GTTCATATAGTCATGGTGAATCACCATGGCGTATTGGCGCTAGTA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02083.hp1 HG00558.hp2 HG02083.hp1	a0001 a0002 a0001 a0002	a0001c0024 a0002c0019 a0001c0024 a0002c0019	a0001c0024t0028 a0002c0019t0001 a0001c0024t0028 a0002c0019t0001	a0001c0024t0028g0003 a0002c0019t0001g0021 a0001c0024t0028g0003 a0002c0019t0001g0021	2	38	0.0526	-44	c.681 others(61): Show c.681-7902_681-7859delGCTAGTATTCATATAGTCATGGTGAATC ACCATGGCGTATTGGC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154661508	GTTCATAT others(37): Show GTTCATATAGTCATGGTGAATCACCATGGCGTATTGGCGCTAGTA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0025 a0002c0014t0025	a0002c0014t0025g0029 a0002c0014t0025g0029	1	38	0.0263	-44	c.681 others(61): Show c.681-7814_681-7771delGCTAGTATTCATATAGTCATGGTGAATC ACCATGGCGTATTGGC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154661596	GTTCATAT others(37): Show GTTCATATAGTCATGGTGAATCACCATGGCGTATTGGCCGTAGTA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02083.hp1 HG00558.hp2 HG02083.hp1	a0001 a0002 a0001 a0002	a0001c0024 a0002c0019 a0001c0024 a0002c0019	a0001c0024t0028 a0002c0019t0001 a0001c0024t0028 a0002c0019t0001	a0001c0024t0028g0003 a0002c0019t0001g0021 a0001c0024t0028g0003 a0002c0019t0001g0021	2	38	0.0526	-44	c.681 others(61): Show c.681-7734_681-7691delGTATTGGCCGTAGTATTCATATAGTCAT GGTGAATCACCATGGC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154661735	TAGTCATG others(37): Show TAGTCATGGTGAATCACCATGGCGTGTTGGCCCTAGTGTTCACGC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG01952.hp1 others(3): Show HG00558.hp1 HG00673.hp1 HG01952.hp1 HG02280.hp1 HG02922.hp2 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0010 a0001c0016 others(3): Show a0001c0003 a0001c0010 a0001c0016 a0001c0017 a0002c0004 a0002c0013	a0001c0003t0007 a0001c0010t0010 a0001c0016t0013 others(3): Show a0001c0003t0007 a0001c0010t0010 a0001c0016t0013 a0001c0017t0020 a0002c0004t0006 a0002c0013t0018	a0001c0003t0007g0024 a0001c0010t0010g0009 a0001c0016t0013g0014 others(3): Show a0001c0003t0007g0024 a0001c0010t0010g0009 a0001c0016t0013g0014 a0001c0017t0020g0033 a0002c0004t0006g0028 a0002c0013t0018g0026	6	38	0.1579	-44	c.681 others(61): Show c.681-7558_681-7515delGTGTTGGCCCTAGTGTTCACGCAGTCAT GGTGAATCACCATGGC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154662422	GGCTGTAG others(37): Show GGCTGTAGTGTTCATATAGTCATGGTGAATCACCATGGCGTATCA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG01952.hp1 others(2): Show HG00558.hp1 HG00673.hp1 HG01952.hp1 HG01952.hp2 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0016 a0001c0017 others(2): Show a0001c0003 a0001c0016 a0001c0017 a0002c0012 a0002c0013	a0001c0003t0008 a0001c0016t0013 a0001c0017t0020 others(2): Show a0001c0003t0008 a0001c0016t0013 a0001c0017t0020 a0002c0012t0021 a0002c0013t0018	a0001c0003t0008g0025 a0001c0016t0013g0014 a0001c0017t0020g0033 others(2): Show a0001c0003t0008g0025 a0001c0016t0013g0014 a0001c0017t0020g0033 a0002c0012t0021g0035 a0002c0013t0018g0026	5	38	0.1316	-44	c.681 others(61): Show c.681-6935_681-6892delTGTAGTGTTCATATAGTCATGGTGAATC ACCATGGCGTATCAGC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP9_chr19_4670227_4728842	4672068	CATATATT others(37): Show CATATATTCATATATACTTATATATTCATATATTCATATATACTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02622.hp2 HG02257.hp2 HG02451.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0159 a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0159	3	314	0.0096	-44	c.44 others(55): Show c.4452_*4495delAAGTATATATGAATATATGAATATATAAGTATAT ATGAATATAT	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		3158		chr19	TogoVar
DPY19L2_chr12_63553913_63673493	63556395	CATATATA others(37): Show CATATATACACGTGTATACATATGTATATACATATATACACGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0160 a0003c0004t0005g0160	1	362	0.0028	-44	c.40 others(55): Show c.4073_*4116delACACGTGTATATATGTATATACATATGTATACAC GTGTATATAT	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding		2517		chr12	TogoVar
DPYD_chr1_97072743_97926034	97323637	ATATATGT others(37): Show ATATATGTGTATATATACACGTATATATACATATCATATATATAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG02004.hp1 others(8): Show HG00099.hp2 HG00735.hp1 HG02004.hp1 HG02572.hp2 HG02717.hp2 HG02895.hp2 HG02976.hp2 HG03098.hp1 HG03471.hp2 NA19043.hp2 NA20300.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0006 a0009	a0001c0001 a0003c0012 a0004c0004 others(3): Show a0001c0001 a0003c0012 a0004c0004 a0005c0006 a0006c0005 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0012t0002 a0004c0004t0003 a0005c0006t0001 a0005c0006t0004 a0006c0005t0002 a0009c0013t0004	a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0045 others(8): Show a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0002g0004 a0001c0001t0003g0037 a0003c0012t0002g0014 a0004c0004t0003g0039 a0005c0006t0001g0036 a0005c0006t0004g0035 a0006c0005t0002g0024 a0009c0013t0004g0020	11	52	0.2115	-44	c.205 others(65): Show c.2059-17384_2059-17341delGTATATATATGATATGTATATATA CGTGTATATATACACATATA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	16/22			chr1	TogoVar
DR1_chr1_93340907_93374493	93364854	TTTTTTTT others(37): Show TTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0003 a0001c0001t0063g0003	1	360	0.0028	-44	c.42 others(55): Show c.4216_*4259delTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTC TGTCACCCAG	DR1	ENSG00000117505.13	transcript	ENST00000370272.9	protein_coding	3/3	4216		chr1	TogoVar
DRC7_chr16_57689806_57736805	57729550	GTGGATGG others(37): Show GTGGATGGATGAGTGGGTGGGTGGATGGATGAGTGGGTGGGTGGA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG02818.hp2 others(3): Show HG02258.hp1 HG02647.hp1 HG02818.hp2 HG03453.hp1 HG03471.hp2 HG06807.hp2	a0004 a0011 a0004 a0011	a0004c0015 a0011c0013 a0004c0015 a0011c0013	a0004c0015t0001 a0011c0013t0001 a0004c0015t0001 a0011c0013t0001	a0004c0015t0001g0069 a0004c0015t0001g0074 a0004c0015t0001g0075 others(3): Show a0004c0015t0001g0069 a0004c0015t0001g0074 a0004c0015t0001g0075 a0011c0013t0001g0036 a0011c0013t0001g0221 a0011c0013t0001g0222	6	388	0.0155	-44	c.239 others(62): Show c.2391+977_2391+1020delAGTGGGTGGGTGGATGGATGAGTGGGT GGGTGGATGGATGGATG	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
DUS1L_chr17_82052506_82070804	82066793	AACCTGGG others(37): Show AACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCATTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0053 a0001c0008t0002g0053	1	424	0.0024	-44	c.-12 others(55): Show c.-1235_-1192delACAATGGCTTGATCTCGGCTCACTGCAACCTCCG CCTCCCAGGT	DUS1L	ENSG00000169718.18	transcript	ENST00000306796.10	protein_coding		990		chr17	TogoVar
DUS2_chr16_68018284_68084320	68067177	CCTCCCCT others(37): Show CCTCCCCTCCCATCTCCTCCCCTCTCCCCTCCCATCTCCTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03098.hp1 HG01433.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0143 a0001c0001t0001g0144	2	234	0.0086	-44	c.554 others(59): Show c.554+569_554+612delCTCCCATCTCCTCCCCTCTCCCCTCCCATC TCCTCCCCTCTCCC	DUS2	ENSG00000167264.18	transcript	ENST00000565263.6	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
DUSP8_chr11_1549051_1577271	1575165	GTGCCATA others(37): Show GTGCCATATTAACTATTTTTAAGTGAATTTGGCAGCATTAAGTAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	367	0.0027	-44	c.-34 others(55): Show c.-3417_-3374delGTACTTAATGCTGCCAAATTCACTTAAAAATAGT TAATATGGCA	DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding		2895		chr11	TogoVar
DYSF_chr2_71448561_71691763	71570984	GCACACAG others(37): Show GCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0149 a0001c0004t0001g0149	1	192	0.0052	-44	c.317 others(61): Show c.3174+253_3174+296delCACACTGGGAACACCCACAGATCACACT CAGCACACACACAGAT	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	29/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71570984	GCACACAG others(37): Show GCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0074 a0001c0074	a0001c0074t0001 a0001c0074t0001	a0001c0074t0001g0094 a0001c0074t0001g0094	1	208	0.0048	-44	c.322 others(61): Show c.3228+253_3228+296delCACACTGGGAACACCCACAGATCACACT CAGCACACACACAGAT	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	29/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
EBF2_chr8_25836725_26050413	26002844	AGGCAGGC others(37): Show AGGCAGGCAGGCGGGCAGGCGGGCAGGCGGGCAGGCGGGCAGGCG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02258.hp2 HG02895.hp1 others(4): Show HG01978.hp1 HG02258.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0009 a0001c0001t0028 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0028 a0001c0002t0016 a0002c0003t0007	a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0009g0002 others(4): Show a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0009g0002 a0001c0001t0028g0113 a0001c0002t0016g0202 a0002c0003t0007g0205 a0002c0003t0007g0206	7	220	0.0318	-44	c.551 others(63): Show c.551+30197_551+30240delCGCCTGCCCGCCTGCCCGCCTGCCCG CCTGCCCGCCTGCCTGCC	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	26002848	AGGCAGGC others(37): Show AGGCAGGCGGGCAGGCGGGCAGGCGGGCAGGCGGGCAGGCGGGCA	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03942.hp1 HG03209.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0017 a0001c0004t0003 a0001c0002t0017 a0001c0004t0003	a0001c0002t0017g0001 a0001c0004t0003g0204 a0001c0002t0017g0001 a0001c0004t0003g0204	2	220	0.0091	-44	c.551 others(63): Show c.551+30193_551+30236delTGCCCGCCTGCCCGCCTGCCCGCCTG CCCGCCTGCCCGCCTGCC	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	26002888	GGGCAGGC others(37): Show GGGCAGGCAGGCGGGCAGGCGGGCAGGCGGGCAGGCGGGCAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0103 a0001c0001t0027g0103	1	220	0.0046	-44	c.551 others(63): Show c.551+30153_551+30196delTGCCTGCCCGCCTGCCCGCCTGCCCG CCTGCCCGCCTGCCTGCC	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBI3_chr19_4224523_4242528	4232743	GGGATGAA others(37): Show GGGATGAATTAATGAATGAATGAAGGAATGAATTAATGAATGAAT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0166 a0002c0002t0001g0166	1	438	0.0023	-44	c.201 others(59): Show c.201-384_201-341delGATGAATTAATGAATGAATGAAGGAATGAA TTAATGAATGAATG	EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
EBI3_chr19_4224523_4242528	4232773	AATTAATG others(37): Show AATTAATGAATGAATGAAGGAATGAATTAATGAATGAATGAACGG	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0035 a0002c0002t0002g0035	1	438	0.0023	-44	c.201 others(59): Show c.201-353_201-310delTAATGAATGAATGAAGGAATGAATTAATGA ATGAATGAACGGAT	EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
ECE2_chr3_184271022_184298031	184276217	GGGAGGGG others(37): Show GGGAGGGGACTGGGTGGAGGGGGACGAGGCAGAGGGGTCGGCCGC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG02293.hp2 HG00639.hp2 HG01081.hp1 HG02293.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0023 a0001c0005t0005g0023	3	398	0.0075	-44	c.39+ others(55): Show c.39+33_39+76delACTGGGTGGAGGGGGACGAGGCAGAGGGGTCGGC CGCGGAGGGG	ECE2	ENSG00000145194.19	transcript	ENST00000404464.8	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
EEF1A1_chr6_73510750_73526032	73524870	TTTTTTTT others(37): Show TTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG02896.hp2 others(5): Show HG01109.hp2 HG01167.hp1 HG02896.hp2 HG03516.hp1 NA18959.hp2 NA18987.hp2 NA19001.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0018	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0004g0004 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0004g0004 a0001c0001t0008g0008 a0001c0001t0018g0018	8	424	0.0189	-44	c.-39 others(55): Show c.-3945_-3902delCACTCCAGCCTGGGTGACAGAGTGAGACTCCATC TCAAAAAAAA	EEF1A1	ENSG00000156508.19	transcript	ENST00000309268.11	protein_coding		3839		chr6	TogoVar
EFCAB6_chr22_43523778_43817305	43784541	GTGTATAT others(37): Show GTGTATATGTATATATACACATATATATGTGTACATATACACATA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18522.hp1 HG01433.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0153 a0001c0001t0001g0087 a0001c0001t0001g0153	2	290	0.0069	-44	c.-7- others(59): Show c.-7-2260_-7-2217delTATGTGTATATGTACACATATATATGTGTA TATATACATATACA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFNA5_chr5_107371894_107675937	107569473	ATGTGTAT others(37): Show ATGTGTATATATATTTATATATATGTGTATATATATTTATATATG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03486.hp1 HG03195.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0097 a0001c0001t0045 a0001c0001t0097	a0001c0001t0045g0026 a0001c0001t0097g0027 a0001c0001t0045g0026 a0001c0001t0097g0027	2	190	0.0105	-44	c.125 others(65): Show c.125+100972_125+101015delCATATATAAATATATATACACATA TATATAAATATATATACACA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFR3B_chr2_25037076_25164135	25139495	GCCTCAGA others(37): Show GCCTCAGATCATGCAGACTACAGCTATGAAATACCGCAAAAGTGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0163 a0001c0010t0005g0163	1	306	0.0033	-44	c.185 others(61): Show c.1854+369_1854+412delCAGCTATGAAATACCGCAAAAGTGACCT CAGATCATGCAGACTA	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIF4A1_chr17_7567825_7584006	7571868	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	436	0.0023	-44	c.-97 others(53): Show c.-973_-930delATATATATATATATATATATATATATATATATATAT ATATAAAA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		956		chr17	TogoVar
EIF4G3_chr1_20801479_21181897	20816294	CCGGCCAG others(37): Show CCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00639.hp1 others(73): Show HG00280.hp1 HG00323.hp1 HG00639.hp1 HG00639.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02300.hp1 HG02486.hp1 HG02647.hp1 HG02683.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03540.hp2 HG03579.hp1 HG03927.hp1 HG04184.hp1 HG04228.hp2 NA18906.hp2 NA18949.hp1 NA18965.hp2 NA18966.hp1 NA18975.hp2 NA18982.hp1 NA18987.hp2 NA19009.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19079.hp2 NA19084.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0009 a0002c0003 others(2): Show a0001c0001 a0001c0009 a0002c0003 a0004c0006 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0009t0002 a0002c0003t0001 a0004c0006t0001 a0005c0012t0002	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(73): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0143 a0001c0001t0001g0158 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0003g0271 a0001c0001t0005g0295 a0001c0001t0013g0033 a0001c0001t0013g0034 a0001c0001t0017g0003 a0001c0001t0018g0073 a0001c0001t0019g0093 a0001c0001t0020g0023 a0001c0001t0024g0300 a0001c0009t0002g0092 a0002c0003t0001g0211 a0002c0003t0001g0212 a0002c0003t0001g0213 a0004c0006t0001g0119 a0004c0006t0001g0120 a0005c0012t0002g0005	76	312	0.2436	-44	c.451 others(63): Show c.4515+1054_4515+1097delACCCCCCCCCCCCCCGCCTCCCTCCC GGACGGGGCGGCTGGCCG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36			chr1	TogoVar
ELAVL1_chr19_7953573_8010641	7998733	TTGGCCTC others(37): Show TTGGCCTCCCAAAGTGCTGGAATTGCAGGTGTGAGCCACCATGCC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0220 a0001c0002t0016g0220	1	276	0.0036	-44	c.-17 others(61): Show c.-17+6718_-17+6761delGGCATGGTGGCTCACACCTGCAATTCCA GCACTTTGGGAGGCCA	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding	1/5			chr19	TogoVar
ELL2_chr5_95880098_95966851	95927476	TACACACA others(37): Show TACACACACGTGTGTATATAGACATACACACACGTGTGTATATAG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02155.hp2 HG02559.hp2 others(3): Show HG01106.hp2 HG02155.hp2 HG02559.hp2 NA18747.hp2 NA19002.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0009 a0002c0002t0001 a0002c0002t0009	a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0074 others(3): Show a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0082 a0002c0002t0001g0150 a0002c0002t0009g0118	6	314	0.0191	-44	c.196 others(61): Show c.196-7975_196-7932delCTATATACACACGTGTGTGTATGTCTAT ATACACACGTGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELMOD1_chr11_107586147_107671779	107590332	TTCTCTCT others(37): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01099.hp2 HG02723.hp2 others(3): Show HG00738.hp2 HG01099.hp2 HG02723.hp2 HG02886.hp1 HG02895.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0009 a0001c0002t0005 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0002t0005 a0001c0002t0010 a0001c0002t0027	a0001c0001t0002g0267 a0001c0001t0009g0266 a0001c0002t0005g0288 others(3): Show a0001c0001t0002g0267 a0001c0001t0009g0266 a0001c0002t0005g0288 a0001c0002t0005g0289 a0001c0002t0010g0316 a0001c0002t0027g0268	6	342	0.0175	-44	c.-11 others(55): Show c.-1162_-1119delTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTC	ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding		814		chr11	TogoVar
ELOC_chr8_73940119_73977191	73976049	AGGCGGCA others(37): Show AGGCGGCAGGCGGGCGGCAGGCGGGCGGCAGGCGGGCGGCAGGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 NA19009.hp1 HG02572.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0146 a0001c0001t0007g0104 a0001c0001t0001g0146 a0001c0001t0007g0104	2	404	0.0050	-44	c.-40 others(55): Show c.-4067_-4024delCGCCTGCCGCCCGCCTGCCGCCCGCCTGCCGCCC GCCTGCCGCC	ELOC	ENSG00000154582.18	transcript	ENST00000520242.6	protein_coding		3859		chr8	TogoVar
ELOVL7_chr5_60746791_60849269	60802081	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp1 HG01167.hp1 others(46): Show HG00099.hp2 HG00673.hp1 HG01167.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG04115.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18959.hp2 NA18968.hp1 NA18970.hp1 NA18997.hp2 NA19003.hp1 NA19003.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp2 NA19060.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0018	a0001c0001t0001g0040 a0001c0001t0001g0131 a0001c0001t0001g0151 others(45): Show a0001c0001t0001g0040 a0001c0001t0001g0131 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0173 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0206 a0001c0001t0003g0006 a0001c0001t0003g0038 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0192 a0001c0001t0008g0205 a0001c0001t0018g0039	49	258	0.1899	-44	c.-85 others(61): Show c.-85-2895_-85-2852delGTGTGTGTATATATATATATATATATAT ATATATATATATATAT	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELSPBP1_chr19_47989632_48030154	48016456	TTTTCTTT others(37): Show TTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0099 a0002c0002t0001g0099	1	388	0.0026	-44	c.355 others(59): Show c.355+426_355+469delCTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016503	TCTTTCTT others(37): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0167 a0003c0003t0002g0167	1	388	0.0026	-44	c.355 others(59): Show c.355+468_355+511delTCTTTCTTTCTTTCTTTCTTTCTTCCTTCC TTCCTTCCTTCCTT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
EML1_chr14_99788413_99947060	99927643	GTGGTAGA others(37): Show GTGGTAGAGTTCATATAGGAAAGTCAGAATTAATGCTTGATTTCA	G G	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0156 a0001c0004t0011g0156	1	288	0.0035	-44	c.190 others(63): Show c.1909+6768_1909+6811delGGTAGAGTTCATATAGGAAAGTCAGA ATTAATGCTTGATTTCAT	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EMP3_chr19_48320552_48335553	48334410	TTTTCTCT others(37): Show TTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	2	376	0.0053	-44	c.39 others(55): Show c.3941_*3984delTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC	EMP3	ENSG00000142227.11	transcript	ENST00000270221.11	protein_coding		3858		chr19	TogoVar
EMP3_chr19_48320552_48335553	48334416	CTCTTTCT others(37): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02965.hp1 NA19030.hp1 HG02258.hp1 HG02965.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0045 a0001c0001t0003g0026 a0001c0001t0003g0045	3	376	0.0080	-44	c.39 others(55): Show c.3947_*3990delTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTT	EMP3	ENSG00000142227.11	transcript	ENST00000270221.11	protein_coding		3864		chr19	TogoVar
ENPP3_chr6_131632302_131752410	131678942	TTTCTTTC others(37): Show TTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0193 a0006c0009t0001g0193	1	278	0.0036	-44	c.101 others(63): Show c.1011+1006_1011+1049delTTTCTTTCTTTCTTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTC	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
EPHA6_chr3_96809594_97766532	97363171	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0053 a0001c0002t0006g0053	1	82	0.0122	-44	c.160 others(65): Show c.1607-41955_1607-41912delTATATATATATATATATATATATA TATATATATATATATATATA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
ERAP1_chr5_96769484_96812945	96808187	CGTGTGTG others(37): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0003	a0007c0008t0003g0212 a0007c0008t0003g0212	1	416	0.0024	-44	c.-38 others(53): Show c.-389_-346delACACACACACACACACACACACACACACACACACAC ACACACAC	ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding		243		chr5	TogoVar
ERBB4_chr2_211370717_212543802	211772808	GATATATA others(37): Show GATATATATATATATATATATATATATACACATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03453.hp2 HG03516.hp1 HG03195.hp2 HG03453.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0025 a0001c0001t0002g0047 a0001c0001t0009g0023 a0001c0001t0002g0025 a0001c0001t0002g0047 a0001c0001t0009g0023	3	56	0.0536	-44	c.556 others(63): Show c.556+15173_556+15216delATATATATATATATGTGTATATATAT ATATATATATATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	4/27			chr2	TogoVar
ERC1_chr12_986223_1500931	1090890	ATTATTAT others(37): Show ATTATTATTATTATTATTATTATCATTTGTGACAGAGCTTTGCTC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01884.hp1 HG01891.hp2 others(9): Show HG01496.hp1 HG01884.hp1 HG01891.hp2 HG02809.hp1 HG02970.hp1 HG02976.hp1 HG03579.hp1 HG04199.hp1 HG06807.hp1 NA19043.hp2 NA19240.hp1 NA20905.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0007c0012 a0008c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0071 a0001c0003t0092 a0002c0002t0042 a0002c0002t0048 a0002c0002t0064 a0002c0002t0065 a0002c0002t0075 a0007c0012t0073 a0008c0011t0044	a0001c0001t0001g0080 a0001c0001t0004g0075 a0001c0001t0011g0020 others(9): Show a0001c0001t0001g0080 a0001c0001t0004g0075 a0001c0001t0011g0020 a0001c0001t0071g0074 a0001c0003t0092g0004 a0002c0002t0042g0079 a0002c0002t0048g0070 a0002c0002t0064g0069 a0002c0002t0065g0072 a0002c0002t0075g0073 a0007c0012t0073g0067 a0008c0011t0044g0068	12	162	0.0741	-44	c.108 others(63): Show c.1086+7312_1086+7355delTATTATTATTATTATTATTATCATTT GTGACAGAGCTTTGCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	56348863	GAAAGAAA others(37): Show GAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03195.hp1 HG02630.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0042 a0001c0002t0001g0014 a0001c0002t0001g0042	2	74	0.0270	-44	c.658 others(63): Show c.658-52472_658-52429delTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTTCTTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar

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