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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
EFNA2_chr19_1280873_1306431	1295990	GTGGGGCC others(26): Show GTGGGGCCAGGGGGGAGTGGGCGGGGCCGCGGAA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00735.hp2 HG01106.hp1 others(14): Show HG00544.hp1 HG00735.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01361.hp1 HG01952.hp2 HG02004.hp2 HG02083.hp1 HG02148.hp2 HG03453.hp2 HG03579.hp1 HG03927.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0019 a0001c0001t0063 a0001c0001t0073 a0001c0001t0074	a0001c0001t0001g0022 a0001c0001t0001g0041 a0001c0001t0001g0081 others(14): Show a0001c0001t0001g0022 a0001c0001t0001g0041 a0001c0001t0001g0081 a0001c0001t0001g0106 a0001c0001t0003g0022 a0001c0001t0003g0080 a0001c0001t0003g0118 a0001c0001t0003g0129 a0001c0001t0010g0058 a0001c0001t0011g0055 a0001c0001t0017g0021 a0001c0001t0019g0026 a0001c0001t0019g0069 a0001c0001t0019g0128 a0001c0001t0063g0021 a0001c0001t0073g0026 a0001c0001t0074g0033	17	294	0.0578	-33	c.454 others(48): Show c.454+165_454+197delATGGGGCCAGGGGGGAGTGGGCGGGGCCGC GGA		EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr19	TogoVar
EFNA4_chr1_155058740_155074553	155059468	AAAATTTA others(26): Show AAAATTTAAAAATTATTCAGGCCTGCTGGTGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	334	0.0030	-33	c.-43 others(44): Show c.-4355_-4323delAAATTTAAAAATTATTCAGGCCTGCTGGTGCAC		EFNA4	ENSG00000243364.8	transcript	ENST00000368409.8	protein_coding					4271		chr1	TogoVar
EHMT1_chr9_137614005_137841127	137829329	AAAATTTT others(26): Show AAAATTTTCAGACATACCAGAAAGCAGAGAGAAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0117 a0001c0005t0001g0117	1	170	0.0059	-33	c.354 others(52): Show c.3541-5019_3541-4987delAAATTTTCAGACATACCAGAAAGCAG AGAGAAT		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26						chr9	TogoVar
EIF2S1_chr14_67355328_67391516	67384261	TATCACCC others(26): Show TATCACCCAATTTTTTATTTTTATTGCTATTAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0018 a0001c0001t0023g0018	1	368	0.0027	-33	c.82 others(42): Show c.824_*856delCACCCAATTTTTTATTTTTATTGCTATTAAAAT		EIF2S1	ENSG00000134001.15	transcript	ENST00000256383.11	protein_coding	8/8				824	INFO_REALIGN_3_PRIME	chr14	TogoVar
EIF3A_chr10_119028670_119085817	119030272	TGCCGCCG others(26): Show TGCCGCCGCCGTGCTGCTGGGCTGCGCGCCCGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0194 a0001c0001t0003g0194	1	350	0.0029	-33	c.57 others(44): Show c.5734_*5766delGGCGGGCGCGCAGCCCAGCAGCACGGCGGCGGC		EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding					3397		chr10	TogoVar
EIF3A_chr10_119028670_119085817	119030378	CCCCGGCT others(26): Show CCCCGGCTGCACGCGGCCTCCGGGGCGGCGGCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	350	0.0029	-33	c.56 others(44): Show c.5628_*5660delCGGCCGCCGCCCCGGAGGCCGCGTGCAGCCGGG		EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding					3291		chr10	TogoVar
EIF3F_chr11_7982337_8006852	8003178	GTTGGTAC others(26): Show GTTGGTACCAAGATAGCTGAAGGAGCATCCAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0002 a0001c0001t0038g0002	1	394	0.0025	-33	c.71 others(44): Show c.7157_*7189delTTGGTACCAAGATAGCTGAAGGAGCATCCAGAA		EIF3F	ENSG00000175390.15	transcript	ENST00000651655.1	protein_coding					1327		chr11	TogoVar
EIF3H_chr8_116637130_116760823	116752734	AGAGAAAG others(26): Show AGAGAAAGAAAGAAAGAAAGAGGGAGGGAGGGAG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0102 a0001c0001t0013g0102	1	336	0.0030	-33	c.132 others(50): Show c.132+2899_132+2931delCTCCCTCCCTCCCTCTTTCTTTCTTTCT TTCTC		EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	1/7						chr8	TogoVar
EIF4EBP2_chr10_70399145_70433618	70400638	GAGAATCT others(26): Show GAGAATCTCTTGAACCGGCGAGGCAGAGGTTGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0258 a0001c0001t0017g0258	1	422	0.0024	-33	c.-37 others(44): Show c.-3763_-3731delAGAATCTCTTGAACCGGCGAGGCAGAGGTTGCA		EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding					3506		chr10	TogoVar
EIF5AL1_chr10_79507533_79521440	79517877	AAGCAGGC others(26): Show AAGCAGGCATGTCCAGTCTTTTGGCTTCCCTGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	430	0.0023	-33	c.47 others(44): Show c.4764_*4796delAGCAGGCATGTCCAGTCTTTTGGCTTCCCTGGG		EIF5AL1	ENSG00000253626.4	transcript	ENST00000520547.4	protein_coding					1438		chr10	TogoVar
EIPR1_chr2_3183970_3382818	3186272	ACTCCTCT others(26): Show ACTCCTCTGAAGGAGGATTCAGAGGAATCTTCGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02145.hp1 HG02280.hp1 others(3): Show HG01109.hp2 HG02145.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 others(3): Show a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0246	6	250	0.0240	-33	c.30 others(44): Show c.3029_*3061delGCGAAGATTCCTCTGAATCCTCCTTCAGAGGAG		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding					2697		chr2	TogoVar
ELOC_chr8_73940119_73977191	73976049	AGGCGGCA others(26): Show AGGCGGCAGGCGGGCGGCAGGCGGGCGGCAGGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	404	0.0025	-33	c.-40 others(44): Show c.-4056_-4024delCGCCTGCCGCCCGCCTGCCGCCCGCCTGCCGCC		ELOC	ENSG00000154582.18	transcript	ENST00000520242.6	protein_coding					3859		chr8	TogoVar
ELOVL5_chr6_53262404_53353950	53306224	GGGGAGAG others(26): Show GGGGAGAGGGGAGAGGGAGAGGGGAGAGGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	320	0.0031	-33	c.-8- others(50): Show c.-8-10550_-8-10518delTCTCCCCTCTCCCCTCTCCCTCTCCCCT CTCCC		ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7						chr6	TogoVar
ELP4_chr11_31504767_31795324	31554091	CCATCACC others(26): Show CCATCACCCCTGTCTAGCTGCAGGAAAACAAGCT	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0146 a0001c0001t0015g0146	1	270	0.0037	-33	c.381 others(52): Show c.381+14311_381+14343delTCACCCCTGTCTAGCTGCAGGAAAAC AAGCTCA		ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr11	TogoVar
ELSPBP1_chr19_47989632_48030154	48016514	TTCTTTCT others(26): Show TTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0002 a0011c0010t0002	a0011c0010t0002g0144 a0011c0010t0002g0144	1	388	0.0026	-33	c.355 others(48): Show c.355+476_355+508delTCTTTCTTTCTTTCTTCCTTCCTTCCTTCC TTC		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6						chr19	TogoVar
EMC2_chr8_108438624_108494196	108457364	GTGTGTGT others(26): Show GTGTGTGTGTCTATGTATTAGTCCATTTTCATGC	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	364	0.0028	-33	c.363 others(50): Show c.363+1438_363+1470delGTGTGTCTATGTATTAGTCCATTTTCAT GCTGT		EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
EMC3_chr3_9957682_9991841	9986517	CTTGTTCC others(26): Show CTTGTTCCTGGGTGAGCTTCTTGTCGCTCTGCAG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0256 a0002c0007t0001g0256	1	322	0.0031	-33	c.112 others(40): Show c.112_144delCTGCAGAGCGACAAGAAGCTCACCCAGGAACAA	p.Leu others(11): Show p.Leu38_Gln48del	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	1/8	324/2353	112/786	38/261			chr3	TogoVar
EML1_chr14_99788413_99947060	99927906	GTGGTGGT others(26): Show GTGGTGGTATTGGTGGTGGTGGTGATGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0019 a0002c0001t0019	a0002c0001t0019g0234 a0002c0001t0019g0234	1	288	0.0035	-33	c.190 others(52): Show c.1909+7037_1909+7069delATTGGTGGTGGTGGTGATGGTGGTGA TGGTGGT		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML4_chr2_42164353_42337548	42175198	TGCCTCCC others(26): Show TGCCTCCCGTGTTCAAGCTATTCTCCTGCCTCAA	T T	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA19000.hp1 NA19063.hp2 others(2): Show HG02083.hp1 NA19000.hp1 NA19063.hp2 NA19065.hp1 NA19077.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0139 a0004c0004t0003g0142 a0004c0004t0003g0143 others(2): Show a0004c0004t0003g0139 a0004c0004t0003g0142 a0004c0004t0003g0143 a0004c0004t0003g0144 a0004c0004t0003g0145	5	358	0.0140	-33	c.25+ others(48): Show c.25+5571_25+5603delTGTTCAAGCTATTCTCCTGCCTCAAGCCTC CCG		EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
ENAH_chr1_225481829_225658123	225627900	TACCAACT others(26): Show TACCAACTTATAAACATACACTGTTTTGTCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03017.hp2 HG03834.hp1 others(10): Show HG01361.hp1 HG03017.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp2 NA18943.hp2 NA18955.hp1 NA18959.hp2 NA18973.hp2 NA18983.hp1 NA19011.hp2 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0008 a0002c0006 a0001c0003 a0001c0008 a0002c0006	a0001c0003t0014 a0001c0003t0029 a0001c0003t0107 others(5): Show a0001c0003t0014 a0001c0003t0029 a0001c0003t0107 a0001c0003t0110 a0001c0003t0111 a0001c0008t0014 a0002c0006t0108 a0002c0006t0109	a0001c0003t0014g0022 a0001c0003t0014g0025 a0001c0003t0014g0049 others(10): Show a0001c0003t0014g0022 a0001c0003t0014g0025 a0001c0003t0014g0049 a0001c0003t0014g0050 a0001c0003t0029g0051 a0001c0003t0029g0052 a0001c0003t0029g0054 a0001c0003t0107g0023 a0001c0003t0110g0058 a0001c0003t0111g0053 a0001c0008t0014g0048 a0002c0006t0108g0020 a0002c0006t0109g0024	13	308	0.0422	-33	c.5+2 others(48): Show c.5+24753_5+24785delGGGGGACAAAACAGTGTATGTTTATAAGTT GGT		ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	1/13						chr1	TogoVar
ENDOV_chr17_80410167_80443086	80434856	GGATCACT others(26): Show GGATCACTTAAGCCCAGGAGGTTGAGGTTGCAGT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02615.hp2 HG01884.hp2 HG02615.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0017 a0001c0006t0017	a0001c0006t0017g0037 a0001c0006t0017g0037	2	420	0.0048	-33	c.839 others(50): Show c.839-1274_839-1242delTCACTTAAGCCCAGGAGGTTGAGGTTGC AGTGA		ENDOV	ENSG00000173818.17	transcript	ENST00000518137.6	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr17	TogoVar
ENO3_chr17_4946119_4962129	4955807	TTGTCTCT others(26): Show TTGTCTCTGCCCTGTCTCTGCTCTGTCTCTGCCC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp2 HG01192.hp2 others(31): Show HG00609.hp2 HG00621.hp2 HG01192.hp2 HG01515.hp2 HG01517.hp1 HG02148.hp2 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02818.hp1 HG03130.hp1 HG03195.hp1 HG03453.hp1 HG03516.hp1 HG03579.hp2 HG03834.hp1 NA18944.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18968.hp1 NA18973.hp1 NA18975.hp1 NA19002.hp1 NA19005.hp1 NA19057.hp1 NA19060.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0018 a0002c0002 others(1): Show a0001c0001 a0001c0018 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0018t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0018t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0018t0001g0058 a0002c0002t0001g0007 a0003c0003t0001g0081	34	440	0.0773	-33	c.866 others(47): Show c.866-114_866-82delTCTGTCTCTGCCCTGTCTCTGCCCTGTCTCT GC		ENO3	ENSG00000108515.18	transcript	ENST00000519602.6	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
ENOSF1_chr18_665318_717630	667423	GTGATGGA others(26): Show GTGATGGAGATGGTGATGGTGATGGTGATGGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0232 a0002c0005t0001g0232	1	418	0.0024	-33	c.68 others(44): Show c.6849_*6881delTCACCATCACCATCACCATCACCATCTCCATCA		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2894		chr18	TogoVar
ENOX1_chr13_43208130_43791972	43247840	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0121 a0001c0002t0027g0121	1	188	0.0053	-33	c.161 others(54): Show c.1612-11135_1612-11103delTATATATATATATATATATATATA TATATATAT		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16						chr13	TogoVar
ENPP7_chr17_79725943_79747219	79746913	GAGGGAGT others(26): Show GAGGGAGTGAAAGCTGGTCCTGCCCATCCTCCTC	G G	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.51 others(44): Show c.5137_*5169delAGGGAGTGAAAGCTGGTCCTGCCCATCCTCCTC		ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding					4695		chr17	TogoVar
ENTPD2_chr9_137043107_137059061	137057122	TGCACATA others(26): Show TGCACATATGCACAGTTGGTAAGAGCAATGCCAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	400	0.0025	-33	c.-31 others(44): Show c.-3158_-3126delCTGGCATTGCTCTTACCAACTGTGCATATGTGC		ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding					3062		chr9	TogoVar
EPAS1_chr2_46292407_46391697	46362953	AGTGGTGG others(26): Show AGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0048 a0002c0002t0014g0048	1	326	0.0031	-33	c.779 others(50): Show c.779+1887_779+1919delAGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGT		EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365506	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	450	0.0022	-33	c.-39 others(44): Show c.-3999_-3967delTATATATATATATATATATATATATATATTTTT		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding					3804		chr2	TogoVar
EPHA3_chr3_89102621_89487134	89211725	TTTCTTCT others(26): Show TTTCTTCTTCTTCTTCTCCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01070.hp1 HG01071.hp1 others(11): Show HG00323.hp2 HG01070.hp1 HG01071.hp1 HG01175.hp1 HG02004.hp1 HG02132.hp1 HG02970.hp2 HG03239.hp2 HG03516.hp2 HG03540.hp1 HG06807.hp2 NA18982.hp1 NA19030.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(3): Show a0001c0001 a0002c0002 a0002c0003 a0002c0005 a0002c0006 a0002c0011	a0001c0001t0001 a0001c0001t0006 a0002c0002t0004 others(4): Show a0001c0001t0001 a0001c0001t0006 a0002c0002t0004 a0002c0003t0003 a0002c0005t0005 a0002c0006t0002 a0002c0011t0003	a0001c0001t0001g0087 a0001c0001t0001g0129 a0001c0001t0001g0133 others(11): Show a0001c0001t0001g0087 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0006g0044 a0001c0001t0006g0150 a0002c0002t0004g0177 a0002c0002t0004g0178 a0002c0002t0004g0191 a0002c0002t0004g0195 a0002c0003t0003g0021 a0002c0005t0005g0086 a0002c0005t0005g0138 a0002c0006t0002g0199 a0002c0011t0003g0029	14	200	0.0700	-33	c.814 others(50): Show c.814+1222_814+1254delCCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCT		EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA4_chr2_221413027_221577304	221470609	ACCTGCTT others(26): Show ACCTGCTTTTCCCTAAAGTATCACTTTAGGGAAC	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	294	0.0034	-33	c.131 others(54): Show c.1318+11710_1318+11742delGTTCCCTAAAGTGATACTTTAGGG AAAAGCAGG		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	5/17						chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566875	AAGGAGAA others(26): Show AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01361.hp1 HG00423.hp2 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0070 a0001c0001t0001g0081	2	294	0.0068	-33	c.159 others(50): Show c.159+1810_159+1842delCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCT		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17						chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566924	AGGAGAAG others(26): Show AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0284 a0001c0001t0005g0284	1	294	0.0034	-33	c.159 others(50): Show c.159+1761_159+1793delCCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCC		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17						chr2	TogoVar
EPHB1_chr3_134790260_135265467	135183021	TTTTCTTT others(26): Show TTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03453.hp2 HG03486.hp1 HG02258.hp1 HG03453.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0024 a0001c0004t0002 a0001c0001t0002 a0001c0001t0024 a0001c0004t0002	a0001c0001t0002g0052 a0001c0001t0024g0107 a0001c0004t0002g0077 a0001c0001t0002g0052 a0001c0001t0024g0107 a0001c0004t0002g0077	3	134	0.0224	-33	c.188 others(52): Show c.1882+3047_1882+3079delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT		EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB3_chr3_184556785_184587408	184564243	TGTGAGGC others(26): Show TGTGAGGCCAGGCCAGCATGGGATGCCTCTGGGA	T T	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18968.hp1 NA18971.hp2 NA18963.hp2 NA18968.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0003g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0003g0104	3	358	0.0084	-33	c.118 others(50): Show c.118+1891_118+1923delGTGAGGCCAGGCCAGCATGGGATGCCTC TGGGA		EPHB3	ENSG00000182580.3	transcript	ENST00000330394.3	protein_coding	1/15						chr3	TogoVar
EPM2A_chr6_145620305_145740520	145727911	GTGAGAGA others(26): Show GTGAGAGACGATTGAATCACGGGGGCAGACTTCC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	320	0.0031	-33	c.301 others(50): Show c.301+7254_301+7286delGGAAGTCTGCCCCCGTGATTCAATCGTC TCTCA		EPM2A	ENSG00000112425.16	transcript	ENST00000367519.9	protein_coding	1/3						chr6	TogoVar
EQTN_chr9_27279654_27302150	27300700	CGTTTGGA others(26): Show CGTTTGGAGATAGAGTTGTTGCAGATATAATTAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0200 a0002c0003t0001g0200	1	446	0.0022	-33	c.-36 others(44): Show c.-3678_-3646delCTAATTATATCTGCAACAACTCTATCTCCAAAC		EQTN	ENSG00000120160.11	transcript	ENST00000380032.8	protein_coding					3551		chr9	TogoVar
ERBB4_chr2_211370717_212543802	211861001	TATATATT others(26): Show TATATATTTATATATTTATATATATATAAATATA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01243.hp1 HG01496.hp1 others(4): Show HG01069.hp2 HG01243.hp1 HG01496.hp1 HG03195.hp1 HG03239.hp1 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 others(3): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0001c0001t0024 a0001c0002t0001 a0001c0002t0018	a0001c0001t0008g0004 a0001c0001t0010g0005 a0001c0001t0010g0022 others(4): Show a0001c0001t0008g0004 a0001c0001t0010g0005 a0001c0001t0010g0022 a0001c0001t0017g0029 a0001c0001t0024g0038 a0001c0002t0001g0030 a0001c0002t0018g0010	7	56	0.1250	-33	c.422 others(52): Show c.422-72875_422-72843delTATATTTATATATATATAAATATATA AATATAT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212015042	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01496.hp1 HG02809.hp1 others(1): Show HG01192.hp2 HG01496.hp1 HG02809.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0015 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0015 a0001c0001t0023	a0001c0001t0002g0032 a0001c0001t0008g0004 a0001c0001t0015g0034 others(1): Show a0001c0001t0002g0032 a0001c0001t0008g0004 a0001c0001t0015g0034 a0001c0001t0023g0012	4	56	0.0714	-33	c.235 others(52): Show c.235-67459_235-67427delATATATATATATATATATATATATAT ATATATA		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27						chr2	TogoVar
ERBIN_chr5_65921575_66087546	66018447	ATATATAT others(26): Show ATATATATTATATTATATAATATATATTATATAT	A A	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0294 a0001c0002t0002g0294	1	306	0.0033	-33	c.534 others(50): Show c.534-2835_534-2803delTTATATTATATAATATATATTATATATT ATATA		ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25					INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	988885	GAATCAAA others(26): Show GAATCAAATTTCAACATGAGATTTGGTAGAGACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01175.hp2 HG01496.hp1 others(13): Show HG00140.hp2 HG01175.hp2 HG01496.hp1 HG01884.hp1 HG02622.hp1 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02970.hp1 HG02976.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03516.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0002c0002 others(2): Show a0001c0001 a0001c0013 a0002c0002 a0002c0006 a0002c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0043 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0043 a0001c0001t0045 a0001c0001t0056 a0001c0001t0068 a0001c0001t0071 a0001c0013t0063 a0002c0002t0038 a0002c0002t0042 a0002c0002t0065 a0002c0002t0075 a0002c0006t0051 a0002c0007t0059	a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0004g0075 others(13): Show a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0043g0084 a0001c0001t0045g0066 a0001c0001t0056g0085 a0001c0001t0068g0083 a0001c0001t0071g0074 a0001c0013t0063g0077 a0002c0002t0038g0082 a0002c0002t0042g0079 a0002c0002t0065g0072 a0002c0002t0075g0073 a0002c0006t0051g0081 a0002c0007t0059g0071	16	162	0.0988	-33	c.-25 others(44): Show c.-2593_-2561delAATCAAATTTCAACATGAGATTTGGTAGAGACA		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding					2337		chr12	TogoVar
ERC2_chr3_55503311_56473467	55720120	CCTTCTTC others(26): Show CCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03041.hp1 HG02630.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0033 a0001c0001t0002g0064 a0001c0001t0001g0033 a0001c0001t0002g0064	2	74	0.0270	-33	c.271 others(54): Show c.2712+14618_2712+14650delAAGAAGAAGAGGAAGAAGAAGAGG AAGAAGAAG		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	55720131	CTCTTCTT others(26): Show CTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01934.hp2 HG01109.hp2 HG01934.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0003 a0001c0001t0002 a0002c0003t0003	a0001c0001t0002g0058 a0002c0003t0003g0056 a0001c0001t0002g0058 a0002c0003t0003g0056	2	74	0.0270	-33	c.271 others(54): Show c.2712+14607_2712+14639delAGAAGAAGAAGAAGAAGAAGAGGA AGAAGAAGA		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17						chr3	TogoVar
ERCC2_chr19_45344837_45375573	45351845	ATGTCCGT others(26): Show ATGTCCGTATAATCCAGAGCGGGCCATCCCTGTC	A A	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0007 a0010c0022t0007	a0010c0022t0007g0056 a0010c0022t0007g0056	1	412	0.0024	-33	c.219 others(50): Show c.2191-157_2191-125delGACAGGGATGGCCCGCTCTGGATTATAC GGACA		ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding	22/22						chr19	TogoVar
ERFL_chr19_41902704_41933449	41914538	ATCCGTCT others(26): Show ATCCGTCTTTCCCTCCCCTTCCACCATCTCTGTC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03831.hp2 HG02630.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0207 a0001c0001t0003g0235 a0001c0001t0001g0207 a0001c0001t0003g0235	2	330	0.0061	-33	c.-13 others(50): Show c.-13-1639_-13-1607delGACAGAGATGGTGGAAGGGGAGGGAAAG ACGGA		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ERFL_chr19_41902704_41933449	41914555	CTTCCACC others(26): Show CTTCCACCATCTCTGTCTCCGTCTCTCCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp1 HG01099.hp2 others(17): Show HG00423.hp2 HG00621.hp1 HG01099.hp2 HG01109.hp1 HG01261.hp2 HG01361.hp1 HG01934.hp1 HG01943.hp2 HG02129.hp1 HG02451.hp1 HG02965.hp1 NA18747.hp2 NA18970.hp1 NA19000.hp1 NA19000.hp2 NA19064.hp1 NA19067.hp1 NA19070.hp2 NA19086.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0082 others(14): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0101 a0001c0001t0001g0171 a0001c0001t0001g0186 a0001c0001t0003g0029 a0001c0001t0003g0240 a0001c0001t0003g0243 a0001c0001t0003g0254 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0002t0002g0021 a0001c0002t0002g0139 a0001c0002t0002g0200	20	330	0.0606	-33	c.-13 others(50): Show c.-13-1656_-13-1624delAGGGAGGGAGAGACGGAGACAGAGATGG TGGAA		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ERICH1_chr8_659200_736224	695888	TCCTCCCC others(26): Show TCCTCCCCATCAGCCTGCACTCGCTCCTCTCACC	T T	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG06807.hp2 HG02698.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0351 a0001c0002t0002g0333 a0001c0001t0002g0351 a0001c0002t0002g0333	2	378	0.0053	-33	c.170 others(50): Show c.170-3309_170-3277delGGTGAGAGGAGCGAGTGCAGGCTGATGG GGAGG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH1_chr8_659200_736224	696255	TCCTCCCC others(26): Show TCCTCCCCATCAGCCTGCGCTCGCTCCTCTCACC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	378	0.0027	-33	c.170 others(50): Show c.170-3676_170-3644delGGTGAGAGGAGCGAGCGCAGGCTGATGG GGAGG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073467	TATATATA others(26): Show TATATATATATATATATATGTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	442	0.0023	-33	c.58+ others(48): Show c.58+8741_58+8773delATATATATATATATATATGTATATATATAT ATA		ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2						chr8	TogoVar
ERLEC1_chr2_53782044_53823796	53823223	ATTTGGAG others(26): Show ATTTGGAGGAGATGATGGGGATACCCTTCTTTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	374	0.0027	-33	c.52 others(44): Show c.5255_*5287delTTTGGAGGAGATGATGGGGATACCCTTCTTTAT		ERLEC1	ENSG00000068912.15	transcript	ENST00000185150.9	protein_coding					4428		chr2	TogoVar
ERVK3-1_chr19_58300377_58321812	58315274	CATGTGTT others(26): Show CATGTGTTGATGCCACCTGTATGTGCAGGTGTGA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0071 a0001c0001t0032g0071	1	424	0.0024	-33	c.49 others(42): Show c.492_*524delATGTGTTGATGCCACCTGTATGTGCAGGTGTGA		ERVK3-1	ENSG00000142396.11	transcript	ENST00000413518.6	protein_coding	4/4				492		chr19	TogoVar

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Search Results (Total: 2438 hits)