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
EIF3A_chr10_119028670_119085817	119052368	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02015.hp1 HG02129.hp1 others(1): Show HG01952.hp2 HG02015.hp1 HG02129.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0066 a0001c0001t0002g0097 a0001c0001t0002g0144 others(1): Show a0001c0001t0002g0066 a0001c0001t0002g0097 a0001c0001t0002g0144 a0001c0002t0002g0278	4	350	0.0114	26	c.219 others(45): Show c.2197-1073_2197-1048dupCACACACACACACACACACACACACA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3E_chr8_108196216_108253717	108201250	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG01884.hp1 others(15): Show HG00099.hp2 HG00323.hp1 HG01884.hp1 HG02074.hp1 HG02080.hp1 HG02486.hp1 HG02630.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG03098.hp2 HG03453.hp1 HG03540.hp1 NA18906.hp1 NA18965.hp2 NA19043.hp1 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0023 a0001c0002t0005 a0001c0001t0005 a0001c0001t0023 a0001c0002t0005	a0001c0001t0005g0030 a0001c0001t0005g0032 a0001c0001t0005g0035 others(14): Show a0001c0001t0005g0030 a0001c0001t0005g0032 a0001c0001t0005g0035 a0001c0001t0005g0040 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0005g0084 a0001c0001t0005g0089 a0001c0001t0005g0096 a0001c0001t0005g0097 a0001c0001t0005g0151 a0001c0001t0005g0153 a0001c0001t0023g0088 a0001c0002t0005g0008	18	348	0.0517	26	c.63 others(35): Show c.634_*635insATATATATATATATATATATATATAT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	13/13	634		chr8	TogoVar
EIF3H_chr8_116637130_116760823	116653348	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp1 HG01978.hp2 others(7): Show HG01074.hp1 HG01081.hp1 HG01978.hp2 HG02129.hp1 HG02273.hp2 HG02486.hp1 HG02486.hp2 HG02895.hp1 HG02976.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 others(1): Show a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0001c0001t0023	a0001c0001t0004g0166 a0001c0001t0004g0171 a0001c0001t0004g0181 others(7): Show a0001c0001t0004g0166 a0001c0001t0004g0171 a0001c0001t0004g0181 a0001c0001t0004g0183 a0001c0001t0004g0192 a0001c0001t0010g0248 a0001c0001t0010g0249 a0001c0001t0012g0203 a0001c0001t0012g0210 a0001c0001t0023g0164	10	336	0.0298	26	c.707 others(43): Show c.707+2507_707+2508insGTGTGTGTGTGTGTGTGTGTGTGTGT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	5/7			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116748271	T T	TCCCCAAA others(19): Show TCCCCAAAGCTGTTGTGAGGATCACAA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0328 a0001c0001t0002g0328	1	336	0.0030	26	c.132 others(43): Show c.132+7369_132+7394dupTTGTGATCCTCACAACAGCTTTGGGG	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	1/7			chr8	TogoVar
EIF3K_chr19_38614188_38641954	38637325	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02818.hp2 HG02723.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0080 a0001c0001t0001g0005 a0001c0001t0001g0080	2	400	0.0050	26	c.40 others(35): Show c.405_*406insTTTTTTTTTTTTTTTTTTTTTTTTTT	EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding		372		chr19	TogoVar
EIF3L_chr22_37844419_37894407	37868634	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	318	0.0031	26	c.580 others(43): Show c.580-1517_580-1516insTTTTTTTTTTTTTTTTTTTTTTTTTT	EIF3L	ENSG00000100129.18	transcript	ENST00000652021.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
EIF4B_chr12_53001456_53047215	53027136	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01433.hp2 HG01358.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0055 a0001c0001t0001g0043 a0001c0001t0001g0055	2	372	0.0054	26	c.668 others(41): Show c.668-646_668-645insTTTTTTTTTTTTTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	6/14			chr12	TogoVar
EIF4B_chr12_53001456_53047215	53030413	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	372	0.0027	26	c.979 others(43): Show c.979+2250_979+2251insTTTTTTTTTTTTTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4B_chr12_53001456_53047215	53042425	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0334 a0001c0005t0013g0334	1	372	0.0027	26	c.22 others(37): Show c.2202_*2203insTTTTTTTTTTTTTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding		211		chr12	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0287 a0001c0003t0001g0287	1	366	0.0027	26	c.299 others(41): Show c.299-733_299-732insATATATATATATATTTTTTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0299 a0001c0003t0001g0299	1	366	0.0027	26	c.299 others(41): Show c.299-733_299-732insATATATATATATATATATTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0337 a0001c0003t0001g0337	1	366	0.0027	26	c.299 others(41): Show c.299-733_299-732insATATATATATATATATATATTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4G3_chr1_20801479_21181897	20863378	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0224 a0001c0001t0004g0224	1	312	0.0032	26	c.300 others(45): Show c.3007-1047_3007-1046insTTTTTTTTTTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	22/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21117756	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	312	0.0032	26	c.-27 others(47): Show c.-271-28544_-271-28543insGTTTTTTTTTTTTTTTTTTTTTTT TT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIF5B_chr2_99332389_99406326	99338922	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0021 a0001c0005t0002g0021	2	342	0.0059	26	c.35+ others(41): Show c.35+1334_35+1335insGTATATATATATATATATATATATAT	EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIPR1_chr2_3183970_3382818	3277220	G G	GCACCTGT others(19): Show GCACCTGTCTCCACCCACGCGGCCCCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp2 HG01192.hp1 others(27): Show HG00140.hp2 HG01074.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG02015.hp1 HG02258.hp2 HG02273.hp2 HG02559.hp2 HG02622.hp2 HG02886.hp1 HG02970.hp2 HG03098.hp2 HG03453.hp2 HG03516.hp2 HG03704.hp2 HG03942.hp1 NA18906.hp2 NA18945.hp1 NA18952.hp2 NA18971.hp1 NA18995.hp1 NA19004.hp2 NA19091.hp1 NA19240.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0030 others(27): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0219 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0002t0001g0092 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0002g0020 a0001c0002t0002g0116 a0001c0002t0002g0118 a0001c0002t0002g0124 a0001c0002t0002g0142 a0001c0002t0002g0181 a0001c0002t0005g0078 a0001c0002t0005g0093 a0001c0002t0005g0094	30	250	0.1200	26	c.260 others(45): Show c.260-19791_260-19766dupTGGGGCCGCGTGGGTGGAGACAGGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELAC1_chr18_50963040_50993121	50971910	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	384	0.0026	26	c.-8- others(41): Show c.-8-2485_-8-2460dupGTATATATATATATATATATATATAT	ELAC1	ENSG00000141642.9	transcript	ENST00000269466.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
ELAC2_chr17_12986612_13023027	13022551	T T	TTCCTTCC others(19): Show TTCCTTCCTTCCTTCCTTCCTTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0018 a0002c0002t0006g0018	1	400	0.0025	26	c.-46 others(37): Show c.-4605_-4604insGAAGGAAGGAAGGAAGGAAGGAAGGA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4525		chr17	TogoVar
ELAPOR1_chr1_109109115_109211781	109144061	A A	ATATATAT others(19): Show ATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0037 a0001c0025t0037	a0001c0025t0037g0102 a0001c0025t0037g0102	1	230	0.0044	26	c.154 others(45): Show c.154-17832_154-17831insATATATTTTTTTTTTTTTTTTTTTTT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAVL1_chr19_7953573_8010641	7957359	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0170 a0001c0001t0007g0170	1	276	0.0036	26	c.61 others(37): Show c.6123_*6124insTTCTTTCTTTCTTTCTTTCTTTCTTT	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1213		chr19	TogoVar
ELAVL2_chr9_23685104_23831240	23702951	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0011	1	352	0.0028	26	c.488 others(43): Show c.488-1373_488-1348dupTTTTTTTTTTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	4/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18966.hp2 NA19084.hp1 HG02257.hp2 NA18966.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0091 a0001c0001t0001g0207 a0001c0001t0001g0059 a0001c0001t0001g0091 a0001c0001t0001g0207	3	352	0.0085	26	c.230 others(43): Show c.230-3981_230-3980insTTTTTTTTTTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23830601	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0057 a0001c0001t0005g0057	1	352	0.0028	26	c.-48 others(37): Show c.-4812_-4811insGTGTGTGTGTGTGTGTGTGTGTGTGT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding		4362		chr9	TogoVar
ELAVL3_chr19_11446326_11486046	11464123	G G	GTCTCTCT others(19): Show GTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02895.hp2 HG02922.hp2 HG02818.hp1 HG02895.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0013 a0001c0004t0003 a0001c0004t0013	a0001c0004t0003g0023 a0001c0004t0003g0024 a0001c0004t0013g0030 a0001c0004t0003g0023 a0001c0004t0003g0024 a0001c0004t0013g0030	3	318	0.0094	26	c.333 others(43): Show c.333+2023_333+2048dupGAGAGAGAGAGAGAGAGAGAGAGAGA	ELAVL3	ENSG00000196361.10	transcript	ENST00000359227.8	protein_coding	3/6			chr19	TogoVar
ELF4_chrX_130058955_130115497	130102876	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0124 a0001c0001t0005g0124	1	274	0.0037	26	c.-21 others(45): Show c.-210+7448_-210+7449insTTCTTTCTTTCTTTCTTTCTTTCTTT	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	1/8			chrX	TogoVar
ELF5_chr11_34473791_34518794	34484481	A A	ATACTATC others(19): Show ATACTATCCTATCCTATCCTATCCTAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02129.hp2 HG02135.hp1 others(40): Show HG02074.hp1 HG02129.hp2 HG02135.hp1 HG02486.hp1 HG02572.hp2 HG02970.hp2 HG03195.hp2 HG03579.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18945.hp1 NA18946.hp2 NA18952.hp1 NA18956.hp1 NA18956.hp2 NA18971.hp1 NA18978.hp2 NA18980.hp1 NA18983.hp2 NA18985.hp1 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19007.hp2 NA19010.hp2 NA19054.hp1 NA19057.hp1 NA19062.hp2 NA19074.hp2 NA19080.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0019 a0001c0001t0002g0033 a0001c0001t0002g0035 others(33): Show a0001c0001t0002g0019 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0053 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0111 a0001c0001t0002g0143 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0163 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0191 a0001c0001t0002g0201 a0001c0001t0002g0206 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0227 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0250 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0282 a0001c0001t0015g0262	43	436	0.0986	26	c.407 others(43): Show c.407-1983_407-1982insATAGGATAGGATAGGATAGGATAGTA	ELF5	ENSG00000135374.11	transcript	ENST00000257832.7	protein_coding	4/6			chr11	TogoVar
ELK3_chr12_96189375_96274824	96210561	G G	GCACACAC others(19): Show GCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0194 a0001c0001t0005g0194	1	354	0.0028	26	c.-2- others(43): Show c.-2-13001_-2-13000insACACACACACACACACACACACACAC	ELK3	ENSG00000111145.8	transcript	ENST00000228741.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
ELK3_chr12_96189375_96274824	96271489	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18952.hp2 NA18941.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0302 a0001c0001t0004g0303 a0001c0001t0004g0302 a0001c0001t0004g0303	2	354	0.0057	26	c.43 others(37): Show c.4309_*4310insTGTGTGTGTGTGTGTGTGTGTGTGTG	ELK3	ENSG00000111145.8	transcript	ENST00000228741.8	protein_coding		1666		chr12	TogoVar
ELL2_chr5_95880098_95966851	95927376	C C	CACATATG others(19): Show CACATATGTGTATATATAGACATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp2 HG01346.hp1 others(14): Show HG00280.hp1 HG00673.hp2 HG01346.hp1 HG01928.hp1 HG02074.hp1 HG02145.hp2 HG02523.hp1 HG03098.hp1 HG03130.hp2 HG03540.hp2 HG04204.hp2 NA18944.hp2 NA18951.hp1 NA18980.hp1 NA18985.hp1 NA19066.hp2 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0001 a0002c0002t0006 a0002c0002t0013 others(1): Show a0002c0002t0001 a0002c0002t0006 a0002c0002t0013 a0002c0008t0001	a0002c0002t0001g0006 a0002c0002t0001g0053 a0002c0002t0001g0060 others(13): Show a0002c0002t0001g0006 a0002c0002t0001g0053 a0002c0002t0001g0060 a0002c0002t0001g0062 a0002c0002t0001g0086 a0002c0002t0001g0097 a0002c0002t0001g0101 a0002c0002t0001g0105 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0148 a0002c0002t0006g0090 a0002c0002t0006g0108 a0002c0002t0013g0063 a0002c0008t0001g0106 a0002c0008t0001g0107	17	314	0.0541	26	c.196 others(43): Show c.196-7832_196-7831insATATATGTCTATATATACACATATGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927400	T T	TACACACA others(19): Show TACACACACGTGTGTATATAGACATAC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	314	0.0032	26	c.196 others(43): Show c.196-7881_196-7856dupGTATGTCTATATACACACGTGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927524	T T	TACACACA others(19): Show TACACACACACGTGTATATAGACATAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0272	1	314	0.0032	26	c.196 others(43): Show c.196-7980_196-7979insGTATGTCTATATACACGTGTGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELMO1_chr7_36847906_37453864	36849025	C C	CTCTCTTT others(19): Show CTCTCTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02965.hp2 HG02717.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0013 a0001c0002t0003g0038 a0001c0002t0003g0013 a0001c0002t0003g0038	2	92	0.0217	26	c.65 others(37): Show c.6525_*6526insAAAAAAAAAAAAAAAAAAAAAAGAGA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding		3880		chr7	TogoVar
ELMO1_chr7_36847906_37453864	36897325	C C	CGTGTGTG others(19): Show CGTGTGTGCGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02559.hp2 HG02896.hp1 HG01192.hp1 HG02559.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0001 a0001c0002t0006 a0001c0001t0013 a0001c0002t0001 a0001c0002t0006	a0001c0001t0013g0078 a0001c0002t0001g0071 a0001c0002t0006g0021 a0001c0001t0013g0078 a0001c0002t0001g0071 a0001c0002t0006g0021	3	92	0.0326	26	c.143 others(45): Show c.1438-2309_1438-2308insACACACACACACACACACGCACACAC	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	36897336	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp2 HG01361.hp1 others(2): Show HG00741.hp2 HG01261.hp2 HG01361.hp1 HG03579.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0002 a0001c0003t0002 a0001c0001t0003 a0001c0002t0002 a0001c0003t0002	a0001c0001t0003g0082 a0001c0002t0002g0049 a0001c0003t0002g0035 others(2): Show a0001c0001t0003g0082 a0001c0002t0002g0049 a0001c0003t0002g0035 a0001c0003t0002g0050 a0001c0003t0002g0076	5	92	0.0544	26	c.143 others(45): Show c.1438-2320_1438-2319insTACACACACACACACACACACACACA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	36899684	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02896.hp2 NA19090.hp2 HG01361.hp1 HG02896.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0072 a0001c0001t0003g0082 a0001c0002t0003g0051 a0001c0001t0003g0072 a0001c0001t0003g0082 a0001c0002t0003g0051	3	92	0.0326	26	c.143 others(45): Show c.1438-4668_1438-4667insAAAAAAAAAAAAAAAAAAAAAAAAAA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37161905	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01258.hp1 HG02486.hp1 others(1): Show HG00735.hp1 HG01258.hp1 HG02486.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0015 a0001c0002t0001 others(1): Show a0001c0001t0010 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002	a0001c0001t0010g0084 a0001c0001t0015g0061 a0001c0002t0001g0054 others(1): Show a0001c0001t0010g0084 a0001c0001t0015g0061 a0001c0002t0001g0054 a0001c0002t0002g0048	4	92	0.0435	26	c.108 others(47): Show c.1087-28697_1087-28672dupATATATATATATATATATATATAT AT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	13/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGCGGG others(19): Show GGGGCGGGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA19004.hp1 NA18942.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0234 a0001c0001t0004g0237 a0001c0001t0004g0234 a0001c0001t0004g0237	2	312	0.0064	26	c.-47 others(37): Show c.-4772_-4771insACACACACACACACACACACCCGCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGCG others(19): Show GGGGGGCGGGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	312	0.0032	26	c.-47 others(37): Show c.-4772_-4771insACACACACACACACACACCCGCCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGGG others(19): Show GGGGGGGGCGGGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	312	0.0032	26	c.-47 others(37): Show c.-4772_-4771insACACACACACACACACCCGCCCCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411195	C C	CGGGTGTG others(19): Show CGGGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	312	0.0032	26	c.-47 others(37): Show c.-4774_-4773insACACACACACACACACACACACACCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4581		chr20	TogoVar
ELMOD1_chr11_107586147_107671779	107590421	T T	TGGCTCTC others(19): Show TGGCTCTCTCTCTCTCTCCCTCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0006 a0001c0002t0020g0006	1	342	0.0029	26	c.-10 others(37): Show c.-1074_-1073insGGCTCTCTCTCTCTCTCCCTCCCTCC	ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding		725		chr11	TogoVar
ELMOD3_chr2_85349769_85396748	85364825	A A	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0064 a0001c0001t0004g0064	1	386	0.0026	26	c.199 others(43): Show c.199+1660_199+1661insATATATATATATATATTTTTTTTTTT	ELMOD3	ENSG00000115459.18	transcript	ENST00000409013.8	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ELOA_chr1_23738471_23767059	23758251	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	400	0.0025	26	c.225 others(45): Show c.2257+1129_2257+1130insTTTTTTTTTTTTTTTTTTTTTTTTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELOC_chr8_73940119_73977191	73975355	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0026 a0001c0001t0007g0026	1	404	0.0025	26	c.-33 others(37): Show c.-3330_-3329insAAAAAAAAAAAAAAAAAAAAAAAAAA	ELOC	ENSG00000154582.18	transcript	ENST00000520242.6	protein_coding		3165		chr8	TogoVar
ELOC_chr8_73940119_73977191	73976130	G G	GGCAGGCG others(19): Show GGCAGGCGGGCGGCAGGCGCGGCAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	404	0.0025	26	c.-41 others(37): Show c.-4105_-4104insGCCTGCCGCGCCTGCCGCCCGCCTGC	ELOC	ENSG00000154582.18	transcript	ENST00000520242.6	protein_coding		3940		chr8	TogoVar
ELOVL2_chr6_10975759_11049305	10978310	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	380	0.0026	26	c.54 others(37): Show c.5470_*5471insTTATATATATATATATATATATATAT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2448		chr6	TogoVar
ELOVL2_chr6_10975759_11049305	11043404	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	380	0.0026	26	c.3+7 others(37): Show c.3+798_3+823dupGTGTGTGTGTGTGTGTGTGTGTGTGT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar
ELOVL2_chr6_10975759_11049305	11043467	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01123.hp1 HG01175.hp1 others(9): Show HG00408.hp2 HG01123.hp1 HG01175.hp1 HG01433.hp1 HG03490.hp2 HG03491.hp1 HG04115.hp1 NA18949.hp1 NA18954.hp2 NA18968.hp2 NA18974.hp2 NA18977.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0001c0001t0011 a0003c0008t0001 a0001c0001t0001 a0001c0001t0011 a0003c0008t0001	a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 others(9): Show a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0011g0094 a0001c0001t0011g0096 a0003c0008t0001g0086	12	380	0.0316	26	c.3+7 others(37): Show c.3+760_3+761insGTGTGTGTGTGTGTGTGTGTGTGTGT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar
ELOVL5_chr6_53262404_53353950	53342122	C C	CTTCTGCA others(19): Show CTTCTGCATATTATTATGCAGAGATTA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02647.hp1 HG03579.hp1 others(1): Show HG02280.hp2 HG02647.hp1 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0165 a0001c0001t0001g0197 a0001c0001t0001g0010 a0001c0001t0001g0165 a0001c0001t0001g0197	4	320	0.0125	26	c.-9+ others(41): Show c.-9+6694_-9+6695insTAATCTCTGCATAATAATATGCAGAA	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110084134	A A	ATATATGA others(19): Show ATATATGATATATATAACATATATGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG01361.hp2 others(29): Show HG00140.hp1 HG00323.hp2 HG01361.hp2 HG02004.hp1 HG02027.hp2 HG02129.hp1 HG02523.hp2 HG02976.hp2 HG03491.hp1 HG04184.hp1 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18949.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18981.hp2 NA18985.hp2 NA18988.hp1 NA18993.hp1 NA18994.hp1 NA18999.hp2 NA19000.hp1 NA19007.hp1 NA19009.hp2 NA19074.hp1 NA19082.hp2 NA19084.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0024 a0001c0001t0025 a0001c0001t0031 a0001c0001t0039 a0001c0001t0040 a0001c0001t0046 a0001c0001t0081	a0001c0001t0001g0125 a0001c0001t0002g0236 a0001c0001t0002g0288 others(29): Show a0001c0001t0001g0125 a0001c0001t0002g0236 a0001c0001t0002g0288 a0001c0001t0004g0145 a0001c0001t0004g0271 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0006g0066 a0001c0001t0006g0088 a0001c0001t0006g0093 a0001c0001t0006g0113 a0001c0001t0006g0117 a0001c0001t0006g0120 a0001c0001t0006g0130 a0001c0001t0006g0193 a0001c0001t0006g0222 a0001c0001t0006g0231 a0001c0001t0006g0278 a0001c0001t0006g0280 a0001c0001t0006g0296 a0001c0001t0006g0326 a0001c0001t0012g0085 a0001c0001t0013g0012 a0001c0001t0024g0154 a0001c0001t0024g0245 a0001c0001t0025g0256 a0001c0001t0031g0294 a0001c0001t0031g0320 a0001c0001t0039g0090 a0001c0001t0040g0230 a0001c0001t0046g0006 a0001c0001t0081g0068	32	338	0.0947	26	c.221 others(45): Show c.221+21362_221+21363insCACATATATGTTATATATATCATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar

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