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
EHD2_chr19_47708422_47748134	47731279	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAATTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0147 a0001c0002t0009g0147	1	398	0.0025	33	c.915 others(50): Show c.915+5056_915+5057insAAAAAAAAAAAAAAAATTATATATATAT ATATA	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHMT1_chr9_137614005_137841127	137818702	A A	AGGGGGGG others(26): Show AGGGGGGGCGCCATGTACCGAGACTGTAGAGAGG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19070.hp2 NA19007.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0114 a0001c0001t0001g0047 a0001c0001t0001g0114	2	170	0.0118	33	c.354 others(50): Show c.3540+564_3540+565insGGGGGGGCGCCATGTACCGAGACTGTAG AGAGG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26			chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819310	A A	AGGGGGGG others(26): Show AGGGGGGGCGCCATGTACCGAGACTGTAGAGAGG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19070.hp2 NA19007.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0114 a0001c0001t0001g0047 a0001c0001t0001g0114	2	170	0.0118	33	c.354 others(52): Show c.3540+1172_3540+1173insGGGGGGGCGCCATGTACCGAGACTGT AGAGAGG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26			chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819655	G G	GGCGCCGT others(26): Show GGCGCCGTGTACCGAGACTGTAGAGAGGCCGATT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01496.hp2 HG01934.hp1 others(4): Show HG00639.hp2 HG01496.hp2 HG01934.hp1 HG01943.hp1 HG01981.hp2 HG02273.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0014 a0001c0002 a0001c0014	a0001c0002t0001 a0001c0014t0001 a0001c0002t0001 a0001c0014t0001	a0001c0002t0001g0002 a0001c0002t0001g0009 a0001c0002t0001g0010 others(4): Show a0001c0002t0001g0002 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0014t0001g0008	7	170	0.0412	33	c.354 others(52): Show c.3540+1518_3540+1519insCGCCGTGTACCGAGACTGTAGAGAGG CCGATTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF2AK1_chr7_6017247_6064175	6045733	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0295 a0002c0003t0001g0295	1	418	0.0024	33	c.630 others(48): Show c.630+337_630+338insTATATATATATATATATATATATATATATA TAT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	6/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 NA18975.hp2 others(5): Show HG00408.hp2 HG00558.hp1 NA18975.hp2 NA18983.hp1 NA18984.hp1 NA18989.hp1 NA19010.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0026 a0001c0001t0002g0036 others(4): Show a0001c0001t0002g0003 a0001c0001t0002g0026 a0001c0001t0002g0036 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0136	8	418	0.0191	33	c.119 others(50): Show c.119-1910_119-1909insATATATATATATATATATATTTTTTTTT TTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19075.hp2 NA19080.hp2 others(1): Show NA19065.hp2 NA19075.hp2 NA19080.hp2 NA20805.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0018 a0001c0001 a0014c0018	a0001c0001t0002 a0014c0018t0014 a0001c0001t0002 a0014c0018t0014	a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 others(1): Show a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0014c0018t0014g0074	4	418	0.0096	33	c.119 others(50): Show c.119-1910_119-1909insATATATATATATATATATATATTTTTTT TTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA19091.hp2 HG01123.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0055 a0001c0001t0003g0056 a0001c0001t0002g0055 a0001c0001t0003g0056	2	418	0.0048	33	c.119 others(50): Show c.119-1910_119-1909insATATATATATATATATATATATATTTTT TTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(26): Show AAAAAAAAAATATATATATATATCATATATATAT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	418	0.0024	33	c.119 others(50): Show c.119-1910_119-1909insATATATATATGATATATATATATATTTT TTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2B2_chr14_74997921_75017366	75004689	A A	ATATATAT others(26): Show ATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	326	0.0031	33	c.434 others(46): Show c.434-47_434-46insATATATATATATATATATTTTTTTTTTTTTTT T	EIF2B2	ENSG00000119718.11	transcript	ENST00000266126.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
EIF2B3_chr1_44845522_44991595	44951954	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp2 HG01256.hp1 HG01256.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0221 a0001c0002t0001g0136 a0001c0002t0001g0221	2	322	0.0062	33	c.295 others(52): Show c.295-10290_295-10289insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44984797	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	322	0.0031	33	c.-10 others(50): Show c.-10+1695_-10+1696insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	1/11			chr1	TogoVar
EIF2S3_chrX_24049956_24083810	24080285	A A	AATACTAA others(26): Show AATACTAATGATAGCACTAGCTATCCTGCTCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0136	1	294	0.0034	33	c.35 others(44): Show c.3500_*3501insATACTAATGATAGCACTAGCTATCCTGCTCAGC	EIF2S3	ENSG00000130741.11	transcript	ENST00000253039.9	protein_coding		1476		chrX	TogoVar
EIF3H_chr8_116637130_116760823	116666753	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0321 a0001c0001t0007g0321	1	336	0.0030	33	c.290 others(50): Show c.290-7774_290-7773insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7			chr8	TogoVar
EIF4A1_chr17_7567825_7584006	7571837	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	436	0.0023	33	c.-10 others(44): Show c.-1005_-1004insATATATATATATATATATATATATATATATATA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		987		chr17	TogoVar
EIF4B_chr12_53001456_53047215	53030413	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	372	0.0027	33	c.979 others(50): Show c.979+2250_979+2251insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0324 a0001c0003t0001g0324	1	366	0.0027	33	c.299 others(48): Show c.299-733_299-732insATATATATATATATATATATATTTTTTTTT TTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4G3_chr1_20801479_21181897	20863378	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0042 a0001c0001t0007g0042	1	312	0.0032	33	c.300 others(52): Show c.3007-1047_3007-1046insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	22/36			chr1	TogoVar
EIF5AL1_chr10_79507533_79521440	79507707	T T	TGATGAGG others(26): Show TGATGAGGTCTGAGAGGACTGACAGCTGCAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02970.hp2 HG03195.hp1 HG02451.hp1 HG02970.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	430	0.0070	33	c.-49 others(44): Show c.-4943_-4942insGATGAGGTCTGAGAGGACTGACAGCTGCAGGTG	EIF5AL1	ENSG00000253626.4	transcript	ENST00000520547.4	protein_coding		4825		chr10	TogoVar
EIPR1_chr2_3183970_3382818	3186272	A A	ACTCCTCT others(26): Show ACTCCTCTGAAGGAGGATTCAGAGGAATCTTCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03225.hp1 HG03688.hp1 others(1): Show HG03098.hp1 HG03225.hp1 HG03688.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0003g0028 others(1): Show a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0003g0028 a0001c0001t0003g0042	4	250	0.0160	33	c.30 others(44): Show c.3061_*3062insGCGAAGATTCCTCTGAATCCTCCTTCAGAGGAG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding		2697		chr2	TogoVar
EIPR1_chr2_3183970_3382818	3247003	A A	AGGGAGAG others(26): Show AGGGAGAGAGCGAGGGAGGGAGAGAGCGAGGGAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00639.hp1 others(35): Show HG00280.hp1 HG00323.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01255.hp1 HG01346.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02071.hp2 HG02698.hp1 HG02735.hp1 HG03017.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03942.hp2 HG04115.hp2 NA18944.hp2 NA18957.hp1 NA18970.hp1 NA18979.hp1 NA18999.hp2 NA19005.hp1 NA19011.hp2 NA19066.hp1 NA19079.hp2 NA19090.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0006t0003	a0001c0001t0001g0157 a0001c0001t0001g0186 a0001c0001t0001g0187 others(35): Show a0001c0001t0001g0157 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0216 a0001c0001t0001g0227 a0001c0001t0002g0073 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0003g0038 a0001c0001t0003g0042 a0001c0001t0003g0063 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0091 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0129 a0001c0001t0003g0143 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0215 a0001c0001t0003g0218 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0242 a0001c0001t0003g0247 a0001c0003t0001g0095 a0001c0003t0001g0193 a0001c0006t0003g0203	38	250	0.1520	33	c.416 others(52): Show c.416+10295_416+10296insCTCCCTCGCTCTCTCCCTCCCTCGCT CTCTCCC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
ELAC2_chr17_12986612_13023027	13022550	C C	CTTCCTTC others(26): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 NA20129.hp1 HG03195.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0006 a0002c0008t0012 a0002c0002t0006 a0002c0008t0012	a0002c0002t0006g0018 a0002c0008t0012g0094 a0002c0002t0006g0018 a0002c0008t0012g0094	2	400	0.0050	33	c.-46 others(44): Show c.-4604_-4603insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4524		chr17	TogoVar
ELAPOR1_chr1_109109115_109211781	109110105	C C	CTCAGGGA others(26): Show CTCAGGGAAAGGAAAGTCCCTTTTACTCAAGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	230	0.0044	33	c.-40 others(44): Show c.-4079_-4078insTCAGGGAAAGGAAAGTCCCTTTTACTCAAGAAT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		4009		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109144061	A A	ATATATAT others(26): Show ATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0016 a0002c0005t0016	a0002c0005t0016g0084 a0002c0005t0016g0084	1	230	0.0044	33	c.154 others(52): Show c.154-17832_154-17831insATATATATATATATTTTTTTTTTTTT TTTTTTT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	352	0.0028	33	c.230 others(50): Show c.230-3981_230-3980insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCCAGTCA others(26): Show TCCAGTCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	342	0.0029	33	c.238 others(52): Show c.238+10602_238+10603insTGTGTGTGTGTGTGTGTGTGTGTGTG TGACTGG	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCCAGTCT others(26): Show TCCAGTCTCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18952.hp2 NA18982.hp2 HG02083.hp2 NA18952.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0290 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0290	3	342	0.0088	33	c.238 others(52): Show c.238+10602_238+10603insTGTGTGTGTGTGTGTGTGTGTGTGTG AGACTGG	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELL_chr19_18437663_18527070	18454840	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02293.hp2 HG00642.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0198 a0001c0001t0012g0228 a0001c0001t0001g0198 a0001c0001t0012g0228	2	244	0.0082	33	c.870 others(50): Show c.870-3193_870-3192insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	6/11			chr19	TogoVar
ELMO1_chr7_36847906_37453864	37414118	G G	GTGAATGA others(26): Show GTGAATGATTCCATAATGAATCATGGAATTCATT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG03927.hp1 homoSapiens_chm13v2.hp1 HG02027.hp2 HG03927.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0005t0007 a0001c0001t0001 a0001c0001t0003 a0001c0005t0007	a0001c0001t0001g0040 a0001c0001t0003g0017 a0001c0005t0007g0016 a0001c0001t0001g0040 a0001c0001t0003g0017 a0001c0005t0007g0016	3	92	0.0326	33	c.-74 others(52): Show c.-74+34524_-74+34556dupAATGAATTCCATGATTCATTATGGAA TCATTCA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	1/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGCGGGT others(26): Show GGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	312	0.0032	33	c.-47 others(44): Show c.-4772_-4771insACACACACACACACACACACACACACACCCGCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGCGG others(26): Show GGGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	312	0.0032	33	c.-47 others(44): Show c.-4772_-4771insACACACACACACACACACACACACACCCGCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGGT others(26): Show GGGGGGGTGGGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	312	0.0032	33	c.-47 others(44): Show c.-4772_-4771insACACACACACACACACACACACACCCACCCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELOC_chr8_73940119_73977191	73976049	A A	AGGCGGCA others(26): Show AGGCGGCAGGCGGGCGGCAGGCGGGCGGCAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01361.hp2 HG01975.hp1 others(26): Show HG00738.hp1 HG01361.hp2 HG01975.hp1 HG01981.hp2 HG02109.hp1 HG02135.hp2 HG02896.hp2 HG03704.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18946.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18967.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18983.hp1 NA19064.hp2 NA19066.hp2 NA19074.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0012 others(24): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0150 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0224 a0001c0001t0001g0239 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0002g0065 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0083 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0003g0103 a0001c0001t0003g0118 a0001c0001t0003g0127 a0001c0001t0012g0280	29	404	0.0718	33	c.-40 others(44): Show c.-4056_-4024dupCGCCTGCCGCCCGCCTGCCGCCCGCCTGCCGCC	ELOC	ENSG00000154582.18	transcript	ENST00000520242.6	protein_coding		3859		chr8	TogoVar
ELOVL2_chr6_10975759_11049305	10978304	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0004 a0001c0001t0010g0004	1	380	0.0026	33	c.54 others(44): Show c.5476_*5477insTATATATATATATATATATATATATATATATAT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2454		chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	338	0.0030	33	c.90- others(50): Show c.90-12276_90-12275insATATATATATATATATATATATTTTTTT TTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
EMC3_chr3_9957682_9991841	9963477	A A	ATATATAT others(26): Show ATATATATATATATATATTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0073 a0001c0001t0046g0073	1	322	0.0031	33	c.59 others(42): Show c.591_*592insAAAAAAAAAAAAAAAAATATATATATATATATA	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	8/8	591		chr3	TogoVar
EMC3_chr3_9957682_9991841	9989984	A A	AAGCATAG others(26): Show AAGCATAGACTCAGATTGCCCTGAATACACTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0256 a0002c0007t0001g0256	1	322	0.0031	33	c.-33 others(44): Show c.-3356_-3324dupGGGAGTGTATTCAGGGCAATCTGAGTCTATGCT	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding		3144		chr3	TogoVar
EML1_chr14_99788413_99947060	99927975	G G	GTGGTGGT others(26): Show GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0158 a0001c0003t0001g0158	1	288	0.0035	33	c.190 others(52): Show c.1909+7109_1909+7110insATGGTGGTGGTGGTGGTGGTGATGGT GGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML2_chr19_45604400_45644397	45636476	A A	ATGACTCC others(26): Show ATGACTCCAGGCTGGGTCAGCCCTGTCCCTGTGG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	382	0.0026	33	c.179 others(50): Show c.179+1996_180-2006dupCCACAGGGACAGGGCTGACCCAGCCTGG AGTCA	EML2	ENSG00000125746.18	transcript	ENST00000245925.8	protein_coding	3/18			chr19	TogoVar
EML4_chr2_42164353_42337548	42245094	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG02615.hp2 others(1): Show HG01516.hp1 HG01517.hp1 HG02615.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0005g0322 others(1): Show a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0005g0322 a0001c0001t0005g0323	4	358	0.0112	33	c.26- others(46): Show c.26-393_26-392insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882857	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01433.hp1 HG01943.hp2 others(1): Show HG01167.hp1 HG01433.hp1 HG01943.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0003t0027 others(1): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0027 a0001c0003t0054	a0001c0001t0001g0209 a0001c0003t0002g0257 a0001c0003t0027g0149 others(1): Show a0001c0001t0001g0209 a0001c0003t0002g0257 a0001c0003t0027g0149 a0001c0003t0054g0166	4	264	0.0152	33	c.243 others(52): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882873	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0221 a0001c0005t0001g0221	1	264	0.0038	33	c.243 others(52): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAGA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(26): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19043.hp2 HG02280.hp1 NA19043.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0032 a0001c0002 a0006c0032	a0001c0002t0006 a0006c0032t0006 a0001c0002t0006 a0006c0032t0006	a0001c0002t0006g0020 a0006c0032t0006g0005 a0001c0002t0006g0020 a0006c0032t0006g0005	2	264	0.0076	33	c.496 others(50): Show c.4968+852_4968+853insGTTTTTTTTTTTTTTTTTTTTTTTTTTG TTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(26): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0231 a0001c0001t0005g0231	1	264	0.0038	33	c.496 others(50): Show c.4968+852_4968+853insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EMX2_chr10_117537746_117554546	117554001	C C	CTCCAGTT others(26): Show CTCCAGTTCTCTGCCTTGTGCTCGAGTTCATTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	402	0.0025	33	c.57 others(44): Show c.5769_*5770insTCCAGTTCTCTGCCTTGTGCTCGAGTTCATTAG	EMX2	ENSG00000170370.12	transcript	ENST00000553456.5	protein_coding		4456		chr10	TogoVar
ENPP6_chr4_184083706_184222873	184162547	A A	AGGAGGGA others(26): Show AGGAGGGAAGGAAGGAAGGAAGGAAGGAAAGAAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02809.hp1 HG02886.hp1 others(3): Show HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0016 a0002c0001 a0001c0003 a0001c0016 a0002c0001	a0001c0003t0003 a0001c0003t0004 a0001c0016t0025 others(1): Show a0001c0003t0003 a0001c0003t0004 a0001c0016t0025 a0002c0001t0001	a0001c0003t0003g0127 a0001c0003t0004g0025 a0001c0003t0004g0026 others(3): Show a0001c0003t0003g0127 a0001c0003t0004g0025 a0001c0003t0004g0026 a0001c0003t0004g0135 a0001c0016t0025g0316 a0002c0001t0001g0134	6	320	0.0188	33	c.242 others(50): Show c.242-8815_242-8814insCTTCTTTCCTTCCTTCCTTCCTTCCTTC CCTCC	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	1/7			chr4	TogoVar
ENPP7_chr17_79725943_79747219	79744102	A A	ACGTCTCT others(26): Show ACGTCTCTGGTCCATAATCCCACCCCTAACAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0007 a0001c0004t0002g0007	1	430	0.0023	33	c.23 others(44): Show c.2325_*2326insCGTCTCTGGTCCATAATCCCACCCCTAACAGGT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding		1884		chr17	TogoVar
EOMES_chr3_27710953_27727323	27711316	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0010	1	400	0.0025	33	c.57 others(44): Show c.5753_*5754insAAAAAAAAATATATATATATATATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4636		chr3	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	C C	CTTTCTTT others(26): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0135 a0010c0014t0001g0135	1	356	0.0028	33	c.705 others(50): Show c.705+1064_705+1065insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AGAAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130972937	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19011.hp2 HG00609.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0210 a0001c0001t0003g0189 a0001c0001t0003g0210	2	356	0.0056	33	c.-14 others(52): Show c.-14-16439_-14-16438insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar

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Search Results (Total: 4928 hits)