Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EIF2B3_chr1_44845522_44991595	44922836	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	52	0.0192	30	c.566 others(47): Show c.566+3791_566+3792insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	5/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44951954	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01071.hp1 HG02523.hp1 HG00323.hp1 HG01071.hp1 HG02523.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0002 a0002c0006t0001 a0001c0001t0002 a0002c0006t0001	a0001c0001t0002g0003 a0001c0001t0002g0063 a0002c0006t0001g0219 a0001c0001t0002g0003 a0001c0001t0002g0063 a0002c0006t0001g0219	3	102	0.0294	30	c.295 others(49): Show c.295-10290_295-10289insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44984797	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01981.hp1 HG02071.hp1 others(5): Show HG01071.hp2 HG01981.hp1 HG02071.hp1 HG02273.hp2 HG02738.hp2 NA18947.hp1 NA18980.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 others(5): Show a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051	8	32	0.2500	30	c.-10 others(47): Show c.-10+1695_-10+1696insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	1/11			chr1	TogoVar
EIF2S3B_chr12_10500890_10513525	10504330	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0000 a0005c0006t0001g0000	1	263	0.0038	30	c.-15 others(41): Show c.-1573_-1572insATATATATATATATATATATATATATATAC	EIF2S3B	ENSG00000180574.4	transcript	ENST00000538173.2	protein_coding		1559		chr12	TogoVar
EIF3A_chr10_119028670_119085817	119052366	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02273.hp2 NA19060.hp1 HG01496.hp1 HG02273.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0032 a0001c0001t0002g0139 a0001c0005t0002g0125 a0001c0001t0002g0032 a0001c0001t0002g0139 a0001c0005t0002g0125	3	337	0.0089	30	c.219 others(49): Show c.2197-1046_2197-1045insCACACACACACACACACACACACACA CACA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3A_chr10_119028670_119085817	119052368	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG01361.hp2 others(3): Show HG00408.hp1 HG00609.hp1 HG01361.hp2 HG02451.hp2 NA18747.hp1 NA18975.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0007 a0001c0001 a0001c0002 a0004c0007	a0001c0001t0002 a0001c0002t0004 a0004c0007t0021 a0001c0001t0002 a0001c0002t0004 a0004c0007t0021	a0001c0001t0002g0036 a0001c0001t0002g0069 a0001c0001t0002g0116 others(3): Show a0001c0001t0002g0036 a0001c0001t0002g0069 a0001c0001t0002g0116 a0001c0001t0002g0145 a0001c0002t0004g0288 a0004c0007t0021g0025	6	14	0.4286	30	c.219 others(49): Show c.2197-1077_2197-1048dupCACACACACACACACACACACACACA CACA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3E_chr8_108196216_108253717	108201250	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0034 a0001c0001t0018g0034	1	175	0.0057	30	c.63 others(39): Show c.634_*635insATATATATATATATATATATATATATATAT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	13/13	634		chr8	TogoVar
EIF3H_chr8_116637130_116760823	116653348	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0183 a0001c0001t0004g0183	1	73	0.0137	30	c.707 others(47): Show c.707+2507_707+2508insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	5/7			chr8	TogoVar
EIF3K_chr19_38614188_38641954	38637325	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0189 a0003c0004t0001g0189	1	308	0.0032	30	c.40 others(39): Show c.405_*406insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding		372		chr19	TogoVar
EIF3L_chr22_37844419_37894407	37868634	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02922.hp1 HG04204.hp1 HG01175.hp2 HG02922.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0002g0267 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0002g0267	3	59	0.0508	30	c.580 others(47): Show c.580-1517_580-1516insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	EIF3L	ENSG00000100129.18	transcript	ENST00000652021.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
EIF4B_chr12_53001456_53047215	53030413	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01433.hp1 HG01243.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0099 a0001c0001t0001g0064 a0001c0001t0001g0099	2	31	0.0645	30	c.979 others(47): Show c.979+2250_979+2251insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31441550	G G	GAAAAAAA others(23): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	218	0.0046	30	c.255 others(47): Show c.2551+223_2551+224insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	17/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0313 a0001c0003t0001g0313	1	195	0.0051	30	c.299 others(45): Show c.299-733_299-732insATATATATATATATATATTTTTTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0288 a0001c0003t0001g0288	1	195	0.0051	30	c.299 others(45): Show c.299-733_299-732insATATATATATATATATATATTTTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA19067.hp1 HG01081.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0060 a0001c0003t0001g0315 a0001c0001t0001g0060 a0001c0003t0001g0315	2	196	0.0102	30	c.299 others(45): Show c.299-733_299-732insATATATATATATATATATATATTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4E_chr4_98874276_98934133	98896224	A A	AAAATAAA others(23): Show AAAATAAAATAAAATAAAATAAAATAAAATT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	273	0.0037	30	c.126 others(47): Show c.126-4893_126-4892insAATTTTATTTTATTTTATTTTATTTTAT TT	EIF4E	ENSG00000151247.13	transcript	ENST00000450253.7	protein_coding	2/6			chr4	TogoVar
EIF4G3_chr1_20801479_21181897	20814748	T T	TCTCCCTC others(23): Show TCTCCCTCTCCCCCTCCCCCTCCCCCTCCCC	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA19079.hp1 NA18988.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0168 a0001c0001t0001g0114 a0001c0001t0001g0168	2	154	0.0130	30	c.451 others(49): Show c.4516-1510_4516-1509insGGGGAGGGGGAGGGGGAGGGGGAGAG GGAG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20814776	C C	CCCCTCCC others(23): Show CCCCTCCCCCTCCCCCTCTCCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	266	0.0038	30	c.451 others(49): Show c.4516-1538_4516-1537insAGAGGGAGAGGGAGAGGGGGAGGGGG AGGG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20814782	C C	CCCCTCCC others(23): Show CCCCTCCCCCTCCCCCTCCCCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0296 a0001c0001t0012g0296	1	246	0.0041	30	c.451 others(49): Show c.4516-1544_4516-1543insAGAGGGAGAGGGGGAGGGGGAGGGGG AGGG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20989056	A A	AGGAGGGG others(23): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	104	0.0096	30	c.178 others(47): Show c.178-6649_178-6648insCCTCCCCTCCCCTCCCCTCCCCTCCCCT CC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20989081	G G	GGGAGGGG others(23): Show GGGAGGGGAGGGGAGGGGAGGGGAGAGGAGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp2 HG02300.hp1 others(1): Show HG00639.hp1 HG01243.hp2 HG02300.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0033 a0001c0001t0002g0065 a0001c0001t0002g0067 others(1): Show a0001c0001t0002g0033 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0019g0074	4	213	0.0188	30	c.178 others(47): Show c.178-6674_178-6673insTCTCCTCTCCCCTCCCCTCCCCTCCCCT CC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20989081	G G	GGGAGGGG others(23): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	210	0.0048	30	c.178 others(47): Show c.178-6674_178-6673insTCTCCCCTCCCCTCCCCTCCCCTCCCCT CC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21117736	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0157 a0001c0001t0006g0157	1	82	0.0122	30	c.-27 others(51): Show c.-271-28524_-271-28523insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIF5B_chr2_99332389_99406326	99338922	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0290 a0001c0005t0002g0290	1	42	0.0238	30	c.35+ others(45): Show c.35+1334_35+1335insGTATATATATATATATATATATATATATAT	EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIF5B_chr2_99332389_99406326	99338993	A A	AATATATA others(23): Show AATATATATATACAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03927.hp2 HG01496.hp2 HG03927.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0287 a0001c0005t0002g0288 a0001c0005t0002g0287 a0001c0005t0002g0288	2	230	0.0087	30	c.35+ others(45): Show c.35+1417_35+1418insAATATATATATATATATATATATATATACA	EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIF6_chr20_35273918_35289772	35277779	C C	CGGGCTCG others(23): Show CGGGCTCGGGCTGGGGCTGGGGCTGGGGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	270	0.0074	30	c.14 others(41): Show c.1417_*1418insCAGCCCCAGCCCCAGCCCCAGCCCGAGCCC	EIF6	ENSG00000242372.9	transcript	ENST00000374450.8	protein_coding		1138		chr20	TogoVar
ELAC2_chr17_12986612_13023027	13022551	T T	TTCCTTCC others(23): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0035 a0002c0002t0005g0035	1	382	0.0026	30	c.-46 others(41): Show c.-4605_-4604insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4525		chr17	TogoVar
ELAPOR1_chr1_109109115_109211781	109113451	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	155	0.0065	30	c.-73 others(39): Show c.-733_-732insGAGAGAGAGAGAGAGAGAGAGAGAGGGAGT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		663		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109138570	C C	CCAGCAGC others(23): Show CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03710.hp1 HG00741.hp1 HG03710.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0010 a0001c0001t0001 a0002c0003t0010	a0001c0001t0001g0122 a0002c0003t0010g0123 a0001c0001t0001g0122 a0002c0003t0010g0123	2	204	0.0098	30	c.154 others(49): Show c.154-23300_154-23299insCAGCAGCAGCAGCAGCAGCAGCAGCA GCAG	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109144061	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	38	0.0263	30	c.154 others(49): Show c.154-17832_154-17831insATATATATATATATTTTTTTTTTTTT TTTT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109144061	A A	ATATATAT others(23): Show ATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02622.hp1 HG02258.hp1 HG02622.hp1	a0001 a0002 a0001 a0002	a0001c0024 a0002c0003 a0001c0024 a0002c0003	a0001c0024t0001 a0002c0003t0011 a0001c0024t0001 a0002c0003t0011	a0001c0024t0001g0096 a0002c0003t0011g0097 a0001c0024t0001g0096 a0002c0003t0011g0097	2	39	0.0513	30	c.154 others(49): Show c.154-17832_154-17831insATATATATATATTTTTTTTTTTTTTT TTTT	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(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG02135.hp2 others(2): Show HG00544.hp2 HG00621.hp2 HG02135.hp2 NA18612.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0040 a0001c0001t0007 a0001c0001t0010 a0001c0001t0040	a0001c0001t0007g0195 a0001c0001t0010g0154 a0001c0001t0010g0168 others(2): Show a0001c0001t0007g0195 a0001c0001t0010g0154 a0001c0001t0010g0168 a0001c0001t0010g0193 a0001c0001t0040g0179	5	180	0.0278	30	c.61 others(41): Show c.6123_*6124insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1213		chr19	TogoVar
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01975.hp2 NA18522.hp2 others(2): Show HG01070.hp1 HG01975.hp2 NA18522.hp2 NA19057.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0046 a0001c0001t0001g0115 a0001c0001t0001g0216 others(2): Show a0001c0001t0001g0046 a0001c0001t0001g0115 a0001c0001t0001g0216 a0001c0001t0001g0229 a0001c0001t0003g0182	5	43	0.1163	30	c.230 others(47): Show c.230-3981_230-3980insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELAVL4_chr1_50103920_50208772	50160582	C C	CAGATATT others(23): Show CAGATATTAGTGGTAGATCCAAGGCCAGAGA	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	274	0.0036	30	c.250 others(49): Show c.250+15386_250+15415dupAGATATTAGTGGTAGATCCAAGGCCA GAGA	ELAVL4	ENSG00000162374.18	transcript	ENST00000371824.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELF2_chr4_139052265_139182218	139092414	T T	TAACAAAC others(23): Show TAACAAACATAACATAACATAACATAACATA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19079.hp2 NA19057.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0167 a0001c0001t0006g0282 a0001c0001t0002g0167 a0001c0001t0006g0282	2	28	0.0714	30	c.239 others(49): Show c.239-18848_239-18847insTATGTTATGTTATGTTATGTTATGTT TGTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139092414	T T	TAACATAA others(23): Show TAACATAACAAACATAACATAACATAACATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	27	0.0370	30	c.239 others(49): Show c.239-18848_239-18847insTATGTTATGTTATGTTATGTTTGTTA TGTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139092414	T T	TAACATAA others(23): Show TAACATAACATAACAAACATAACATAACATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG03098.hp1 others(1): Show HG01257.hp2 HG01258.hp1 HG03098.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0101 a0001c0001t0002g0185 a0001c0001t0002g0186 others(1): Show a0001c0001t0001g0101 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0335	4	30	0.1333	30	c.239 others(49): Show c.239-18848_239-18847insTATGTTATGTTATGTTTGTTATGTTA TGTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139092414	T T	TAACATAA others(23): Show TAACATAACATAACATAACAAACATAACATA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0002 a0001c0001t0011g0002	1	27	0.0370	30	c.239 others(49): Show c.239-18848_239-18847insTATGTTATGTTTGTTATGTTATGTTA TGTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139134527	T T	TTATTGTA others(23): Show TTATTGTATTGTATTGTATTGTATTGTATTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0342 a0001c0001t0002g0342	1	336	0.0030	30	c.72+ others(45): Show c.72+3102_72+3103insCAATACAATACAATACAATACAATACAATA	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	3/9			chr4	TogoVar
ELF4_chrX_130058955_130115497	130107278	A A	AAAAAGAA others(23): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0157 a0001c0001t0024g0157	1	266	0.0038	30	c.-21 others(49): Show c.-210+3046_-210+3047insCTTTTCTTTTCTTTTCTTTTCTTTTC TTTT	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	1/8			chrX	TogoVar
ELK3_chr12_96189375_96274824	96249715	T T	TGCCAGCC others(23): Show TGCCAGCCCTGTCTCAGAGGAAGTCAGCTCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(279): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19075.hp1 NA19077.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0004 a0001c0007 others(5): Show a0001c0001 a0001c0004 a0001c0007 a0001c0008 a0001c0011 a0003c0003 a0004c0006 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0004t0001 a0001c0007t0022 a0001c0008t0001 a0001c0011t0001 a0003c0003t0001 a0004c0006t0008 a0005c0009t0006	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(272): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0344 a0001c0001t0001g0346 a0001c0001t0002g0009 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0045 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0158 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0179 a0001c0001t0002g0323 a0001c0001t0002g0327 a0001c0001t0002g0336 a0001c0001t0002g0339 a0001c0001t0003g0020 a0001c0001t0003g0044 a0001c0001t0003g0047 a0001c0001t0003g0049 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0003g0145 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0165 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0004g0008 a0001c0001t0004g0060 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0110 a0001c0001t0004g0120 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0174 a0001c0001t0004g0205 a0001c0001t0004g0292 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0300 a0001c0001t0004g0302 a0001c0001t0004g0315 a0001c0001t0004g0330 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0005g0006 a0001c0001t0005g0024 a0001c0001t0005g0090 a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0191 a0001c0001t0005g0192 a0001c0001t0005g0193 a0001c0001t0005g0228 a0001c0001t0005g0252 a0001c0001t0005g0253 a0001c0001t0005g0266 a0001c0001t0005g0267 a0001c0001t0005g0285 a0001c0001t0005g0299 a0001c0001t0005g0338 a0001c0001t0005g0340 a0001c0001t0005g0341 a0001c0001t0005g0342 a0001c0001t0006g0003 a0001c0001t0006g0040 a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0006g0050 a0001c0001t0006g0130 a0001c0001t0006g0134 a0001c0001t0006g0185 a0001c0001t0006g0199 a0001c0001t0006g0203 a0001c0001t0006g0206 a0001c0001t0006g0207 a0001c0001t0006g0214 a0001c0001t0006g0215 a0001c0001t0006g0269 a0001c0001t0006g0283 a0001c0001t0006g0328 a0001c0001t0007g0001 a0001c0001t0007g0046 a0001c0001t0007g0109 a0001c0001t0007g0121 a0001c0001t0007g0160 a0001c0001t0007g0204 a0001c0001t0007g0282 a0001c0001t0007g0286 a0001c0001t0007g0287 a0001c0001t0008g0091 a0001c0001t0008g0092 a0001c0001t0008g0093 a0001c0001t0008g0094 a0001c0001t0008g0096 a0001c0001t0008g0097 a0001c0001t0008g0279 a0001c0001t0009g0014 a0001c0001t0009g0015 a0001c0001t0009g0016 a0001c0001t0009g0017 a0001c0001t0009g0018 a0001c0001t0009g0019 a0001c0001t0010g0114 a0001c0001t0010g0227 a0001c0001t0010g0245 a0001c0001t0010g0249 a0001c0001t0010g0295 a0001c0001t0011g0031 a0001c0001t0011g0075 a0001c0001t0011g0076 a0001c0001t0011g0077 a0001c0001t0013g0011 a0001c0001t0013g0012 a0001c0001t0014g0223 a0001c0001t0016g0209 a0001c0001t0017g0122 a0001c0001t0018g0243 a0001c0001t0019g0081 a0001c0001t0020g0176 a0001c0001t0021g0320 a0001c0001t0023g0229 a0001c0001t0025g0304 a0001c0004t0001g0184 a0001c0007t0022g0098 a0001c0008t0001g0276 a0001c0011t0001g0217 a0003c0003t0001g0237 a0003c0003t0001g0238 a0004c0006t0008g0095 a0005c0009t0006g0064	282	352	0.8011	30	c.100 others(49): Show c.1002+1993_1002+2022dupCTCAGAGGAAGTCAGCTCAGCCAGCC CTGT	ELK3	ENSG00000111145.8	transcript	ENST00000228741.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
ELL2_chr5_95880098_95966851	95927400	T T	TACACACA others(23): Show TACACACACACGTGTGTATATAGACACACAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0153 a0004c0009t0003g0153	1	177	0.0056	30	c.196 others(47): Show c.196-7856_196-7855insGTGTGTGTCTATATACACACGTGTGTGT GT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927400	T T	TACACACA others(23): Show TACACACACACGTGTGTATATAGACACATAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA19072.hp2 HG00609.hp2 NA19072.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0003 a0004c0009t0003 a0001c0001t0003 a0004c0009t0003	a0001c0001t0003g0176 a0004c0009t0003g0193 a0001c0001t0003g0176 a0004c0009t0003g0193	2	178	0.0112	30	c.196 others(47): Show c.196-7856_196-7855insGTATGTGTCTATATACACACGTGTGTGT GT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927400	T T	TACACACA others(23): Show TACACACACACGTGTGTATATATAGACATAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	177	0.0056	30	c.196 others(47): Show c.196-7856_196-7855insGTATGTCTATATATACACACGTGTGTGT GT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927688	C C	CGTGTGTA others(23): Show CGTGTGTATATAGACATACACACACACATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03225.hp1 NA18964.hp2 others(2): Show HG01123.hp1 HG03225.hp1 NA18964.hp2 NA18982.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0271 others(2): Show a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0277	5	105	0.0476	30	c.196 others(47): Show c.196-8173_196-8144dupATATGTGTGTGTGTATGTCTATATACAC AC	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELMO1_chr7_36847906_37453864	36897336	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp1 NA19240.hp1 HG02886.hp1 HG03098.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0006 a0001c0001t0008g0059 a0001c0001t0008g0092 a0001c0001t0005g0006 a0001c0001t0008g0059 a0001c0001t0008g0092	3	29	0.1034	30	c.143 others(49): Show c.1438-2320_1438-2319insTACACACACACACACACACACACACA CACA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37161905	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01978.hp1 HG02896.hp2 others(3): Show HG01261.hp2 HG01978.hp1 HG02896.hp2 HG03195.hp1 HG03195.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0002t0003 a0001c0003t0002	a0001c0001t0001g0085 a0001c0001t0003g0072 a0001c0001t0017g0012 others(3): Show a0001c0001t0001g0085 a0001c0001t0003g0072 a0001c0001t0017g0012 a0001c0002t0003g0077 a0001c0003t0002g0020 a0001c0003t0002g0035	6	14	0.4286	30	c.108 others(51): Show c.1087-28701_1087-28672dupATATATATATATATATATATATAT ATATAT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	13/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGCGGG others(23): Show GGGGCGGGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18977.hp1 NA19086.hp1 NA18944.hp1 NA18977.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0060 a0001c0001t0004g0204 a0001c0001t0004g0224 a0001c0001t0003g0060 a0001c0001t0004g0204 a0001c0001t0004g0224	3	74	0.0405	30	c.-47 others(41): Show c.-4772_-4771insACACACACACACACACACACACACCCGCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGCG others(23): Show GGGGGGCGGGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0018 a0001c0001t0004g0018	1	72	0.0139	30	c.-47 others(41): Show c.-4772_-4771insACACACACACACACACACACACCCGCCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411195	C C	CGGGTGTG others(23): Show CGGGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 NA18945.hp2 HG01081.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0106 a0001c0001t0003g0073 a0001c0001t0001g0106 a0001c0001t0003g0073	2	9	0.2222	30	c.-47 others(41): Show c.-4774_-4773insACACACACACACACACACACACACACACCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4581		chr20	TogoVar

Search by Variant

Search

Search Results