Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
EIF4G1_chr3_184309606_184340353	184319425	GGGTGTGT others(10): Show GGGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	384	0.0026	-17	c.425 others(32): Show c.425-262_425-246delGTGTGTGTGTGTGTGTG	EIF4G1	ENSG00000114867.22	transcript	ENST00000346169.7	protein_coding	6/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
EIF4G3_chr1_20801479_21181897	20849046	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03453.hp2 HG03225.hp2 HG03453.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0119 a0004c0006t0001g0120 a0004c0006t0001g0119 a0004c0006t0001g0120	2	312	0.0064	-17	c.388 others(34): Show c.3888+352_3888+368delTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	29/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21058715	CTCTCTTT others(10): Show CTCTCTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0228 a0001c0001t0004g0228	1	312	0.0032	-17	c.-19 others(36): Show c.-195-7738_-195-7722delAAAAAAAAAAAAAGAGA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21083037	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19065.hp1 NA18980.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0005g0292 a0001c0001t0005g0293	2	312	0.0064	-17	c.-19 others(36): Show c.-196+6084_-196+6100delTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36			chr1	TogoVar
EIF4H_chr7_74169356_74202096	74186788	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG01069.hp1 others(16): Show HG00423.hp2 HG00544.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01358.hp2 HG01884.hp2 HG01993.hp2 HG02083.hp2 HG02970.hp2 HG03540.hp2 HG03704.hp2 HG04228.hp2 NA18984.hp2 NA19001.hp1 NA19043.hp1 NA19060.hp1 NA19060.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0022 a0001c0001t0001g0056 a0001c0001t0001g0057 others(15): Show a0001c0001t0001g0022 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0126 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0003g0138 a0001c0001t0003g0139	19	374	0.0508	-17	c.60- others(30): Show c.60-787_60-771delTTTTTTTTTTTTTTTTT	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF5B_chr2_99332389_99406326	99346589	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0273 a0002c0001t0002g0273	1	342	0.0029	-17	c.35+ others(32): Show c.35+9011_35+9027delTTTTTTTTTTTTTTTTT	EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIPR1_chr2_3183970_3382818	3298262	ACAGGCTT others(10): Show ACAGGCTTATATATTGGG	A A	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	250	0.0040	-17	c.259 others(36): Show c.259+39738_259+39754delCCCAATATATAAGCCTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3336841	AGGAAGGG others(10): Show AGGAAGGGAAAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01884.hp1 HG02015.hp2 others(10): Show HG00741.hp2 HG01884.hp1 HG02015.hp2 HG02071.hp1 HG02109.hp1 HG02258.hp2 HG02559.hp2 HG02735.hp2 HG02896.hp1 HG03834.hp1 NA18969.hp2 NA19064.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0009 a0001c0001t0001g0147 a0001c0001t0001g0148 others(10): Show a0001c0001t0001g0009 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0002g0141 a0001c0001t0002g0145 a0001c0001t0002g0149 a0001c0001t0002g0153 a0001c0001t0003g0218 a0001c0001t0004g0008 a0001c0001t0007g0249 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0002g0181	13	250	0.0520	-17	c.259 others(34): Show c.259+1159_259+1175delCTTCCCTTTTCCCTTCC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELAC2_chr17_12986612_13023027	13022255	AAATTAGC others(10): Show AAATTAGCTAGGCGTGGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	400	0.0025	-17	c.-43 others(28): Show c.-4325_-4309delACCACGCCTAGCTAATT	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4229		chr17	TogoVar
ELANE_chr19_847303_861243	849688	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	403	0.0025	-17	c.-26 others(28): Show c.-2640_-2624delTTTTTTTTTTTTTTTTT	ELANE	ENSG00000197561.7	transcript	ENST00000263621.2	protein_coding		2614		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7988537	AGAGGATG others(10): Show AGAGGATGCTTCTGGAAG	A A	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18959.hp1 NA18960.hp1 others(6): Show NA18952.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18969.hp2 NA18980.hp2 NA19065.hp2 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0029 a0001c0002t0005 a0001c0002t0029	a0001c0002t0005g0018 a0001c0002t0005g0212 a0001c0002t0005g0214 others(5): Show a0001c0002t0005g0018 a0001c0002t0005g0212 a0001c0002t0005g0214 a0001c0002t0005g0215 a0001c0002t0005g0216 a0001c0002t0005g0217 a0001c0002t0005g0218 a0001c0002t0029g0213	9	276	0.0326	-17	c.172 others(34): Show c.172+3090_172+3106delCTTCCAGAAGCATCCTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding	2/5			chr19	TogoVar
ELAVL2_chr9_23685104_23831240	23699812	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19072.hp2 NA19000.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0033 a0001c0001t0003g0066 a0001c0001t0002g0033 a0001c0001t0003g0066	2	352	0.0057	-17	c.713 others(34): Show c.713+1550_713+1566delAAAAAAAAAAAAAAAAA	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	5/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23779979	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp2 HG01243.hp2 others(10): Show HG01074.hp1 HG01074.hp2 HG01243.hp2 HG02683.hp1 HG02738.hp2 NA18943.hp2 NA18952.hp2 NA18974.hp1 NA18991.hp1 NA18995.hp1 NA19078.hp2 NA19081.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0017	a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0101 others(10): Show a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0131 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0208 a0001c0001t0001g0331 a0001c0001t0003g0086 a0001c0001t0005g0055 a0001c0001t0017g0085	13	352	0.0369	-17	c.-15 others(36): Show c.-15-17747_-15-17731delTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6			chr9	TogoVar
ELF1_chr13_40926924_41024316	40940386	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01496.hp2 HG02280.hp2 others(6): Show HG01192.hp2 HG01496.hp2 HG02280.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02922.hp2 HG03195.hp2 HG03225.hp1	a0004 a0008 a0004 a0008	a0004c0006 a0008c0017 a0004c0006 a0008c0017	a0004c0006t0004 a0008c0017t0004 a0004c0006t0004 a0008c0017t0004	a0004c0006t0004g0007 a0004c0006t0004g0008 a0004c0006t0004g0069 others(6): Show a0004c0006t0004g0007 a0004c0006t0004g0008 a0004c0006t0004g0069 a0004c0006t0004g0332 a0004c0006t0004g0333 a0004c0006t0004g0334 a0004c0006t0004g0337 a0004c0006t0004g0338 a0008c0017t0004g0047	9	362	0.0249	-17	c.125 others(34): Show c.1256+518_1256+534delTTTTTTTTTTTTTTTTT	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	8/8			chr13	TogoVar
ELF1_chr13_40926924_41024316	40954421	CTCTCCCT others(10): Show CTCTCCCTCTCCCCACGG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02895.hp2 HG03098.hp2 others(2): Show HG02572.hp2 HG02895.hp2 HG03098.hp2 HG06807.hp1 NA19010.hp1	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0001 a0006c0008 a0010c0009 a0001c0001 a0006c0008 a0010c0009	a0001c0001t0001 a0006c0008t0006 a0010c0009t0006 a0001c0001t0001 a0006c0008t0006 a0010c0009t0006	a0001c0001t0001g0108 a0001c0001t0001g0297 a0006c0008t0006g0188 others(2): Show a0001c0001t0001g0108 a0001c0001t0001g0297 a0006c0008t0006g0188 a0006c0008t0006g0189 a0010c0009t0006g0273	5	362	0.0138	-17	c.254 others(34): Show c.254-3002_254-2986delCCGTGGGGAGAGGGAGA	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8			chr13	TogoVar
ELK3_chr12_96189375_96274824	96228416	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0319 a0001c0001t0002g0319	1	354	0.0028	-17	c.207 others(34): Show c.207+4655_207+4671delAAAAAAAAAAAAAAAAA	ELK3	ENSG00000111145.8	transcript	ENST00000228741.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
ELK4_chr1_205602943_205637011	205615390	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0131 a0001c0001t0037g0131	1	424	0.0024	-17	c.11 others(28): Show c.1139_*1155delTTTTTTTTTTTTTTTTT	ELK4	ENSG00000158711.14	transcript	ENST00000357992.9	protein_coding	5/5	1139		chr1	TogoVar
ELL3_chr15_43767620_43781966	43778581	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01167.hp2 HG01169.hp2 HG01070.hp1 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	372	0.0081	-17	c.-16 others(28): Show c.-1697_-1681delTTTTTTTTTTTTTTTTT	ELL3	ENSG00000128886.12	transcript	ENST00000319359.8	protein_coding		1616		chr15	TogoVar
ELL_chr19_18437663_18527070	18478722	CCAGACCC others(10): Show CCAGACCCAACTGGACTT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	244	0.0041	-17	c.136 others(34): Show c.136-5857_136-5841delAAGTCCAGTTGGGTCTG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18491249	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp2 HG01255.hp1 others(11): Show HG01074.hp2 HG01099.hp2 HG01255.hp1 HG02132.hp2 HG02145.hp1 HG02683.hp2 HG03453.hp1 NA18951.hp1 NA18961.hp2 NA18985.hp1 NA19074.hp1 NA19080.hp2 NA19081.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0182 others(11): Show a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0202 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0219 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0004g0150	14	244	0.0574	-17	c.136 others(36): Show c.136-18384_136-18368delAAAAAAAAAAAAAAAAA	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELN_chr7_74023173_74074907	74026586	CTTTGACC others(10): Show CTTTGACCAATGCCTGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00558.hp2 others(83): Show HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG01106.hp1 HG01123.hp2 HG01175.hp1 HG01884.hp1 HG01884.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02280.hp1 HG02300.hp1 HG02523.hp1 HG02647.hp2 HG02717.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18944.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18977.hp2 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19006.hp2 NA19011.hp1 NA19012.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19074.hp1 NA19087.hp1 NA19091.hp2 NA20129.hp2	a0001 a0008 a0012 others(1): Show a0001 a0008 a0012 a0015	a0001c0001 a0001c0016 a0008c0006 others(2): Show a0001c0001 a0001c0016 a0008c0006 a0012c0010 a0015c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0016t0001 a0008c0006t0001 a0012c0010t0005 a0015c0013t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0274 others(80): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0305 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0354 a0001c0001t0002g0290 a0001c0001t0002g0301 a0001c0001t0002g0304 a0001c0001t0002g0336 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0003g0278 a0001c0001t0003g0287 a0001c0001t0003g0289 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0338 a0001c0001t0004g0012 a0001c0001t0004g0288 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0327 a0001c0001t0004g0348 a0001c0001t0005g0277 a0001c0001t0005g0295 a0001c0001t0005g0306 a0001c0001t0005g0307 a0001c0001t0005g0319 a0001c0001t0005g0324 a0001c0001t0005g0329 a0001c0001t0005g0333 a0001c0001t0005g0343 a0001c0001t0009g0316 a0001c0016t0001g0335 a0008c0006t0001g0279 a0008c0006t0001g0282 a0012c0010t0005g0308 a0015c0013t0001g0276	86	366	0.2350	-17	c.-16 others(28): Show c.-1601_-1585delTTTGACCAATGCCTGCA	ELN	ENSG00000049540.19	transcript	ENST00000252034.12	protein_coding		1586		chr7	TogoVar
ELOA_chr1_23738471_23767059	23765206	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG02280.hp2 HG02886.hp1 HG00423.hp1 HG02280.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 a0001c0001t0001 a0001c0001t0011 a0001c0002t0001	a0001c0001t0001g0087 a0001c0001t0011g0095 a0001c0002t0001g0013 a0001c0001t0001g0087 a0001c0001t0011g0095 a0001c0002t0001g0013	3	400	0.0075	-17	c.56 others(28): Show c.5634_*5650delTTTTTTTTTTTTTTTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding		3148		chr1	TogoVar
ELOVL4_chr6_79909814_79952553	79921459	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp1 HG02895.hp2 others(1): Show HG01884.hp2 HG02257.hp1 HG02895.hp2 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0012 a0002c0002t0008g0210 a0002c0002t0008g0012 a0002c0002t0008g0210	4	354	0.0113	-17	c.541 others(32): Show c.541+149_541+165delTTTTTTTTTTTTTTTTT	ELOVL4	ENSG00000118402.6	transcript	ENST00000369816.5	protein_coding	4/5			chr6	TogoVar
ELOVL5_chr6_53262404_53353950	53319270	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG00738.hp2 others(22): Show HG00639.hp2 HG00733.hp1 HG00738.hp2 HG01123.hp2 HG01516.hp1 HG02055.hp2 HG02257.hp1 HG02258.hp1 HG02572.hp2 HG02818.hp1 HG02922.hp2 HG03098.hp2 HG03209.hp2 HG03516.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18968.hp1 NA19000.hp2 NA19054.hp2 NA19060.hp1 NA19066.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015	a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0043 others(22): Show a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0009g0305 a0001c0001t0009g0306 a0001c0001t0012g0056 a0001c0001t0014g0106 a0001c0001t0015g0105	25	320	0.0781	-17	c.-8- others(34): Show c.-8-23580_-8-23564delTTTTTTTTTTTTTTTTT	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110060498	CTGTTGAA others(10): Show CTGTTGAAAAAGTGAGAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02280.hp1 others(9): Show HG02055.hp2 HG02257.hp2 HG02280.hp1 HG02622.hp1 HG02818.hp2 HG02922.hp2 HG03041.hp1 HG03471.hp1 HG06807.hp1 HG06807.hp2 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 others(4): Show a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0027 a0001c0001t0038 a0001c0001t0044 a0001c0001t0050	a0001c0001t0009g0046 a0001c0001t0011g0004 a0001c0001t0011g0045 others(9): Show a0001c0001t0009g0046 a0001c0001t0011g0004 a0001c0001t0011g0045 a0001c0001t0011g0047 a0001c0001t0011g0151 a0001c0001t0011g0152 a0001c0001t0015g0227 a0001c0001t0027g0022 a0001c0001t0027g0254 a0001c0001t0038g0179 a0001c0001t0044g0100 a0001c0001t0050g0039	12	338	0.0355	-17	c.222 others(32): Show c.222-761_222-745delATCTCACTTTTTCAACA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL7_chr5_60746791_60849269	60817679	CACACACA others(10): Show CACACACACCATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01257.hp2 HG01258.hp2 others(3): Show HG01109.hp1 HG01257.hp2 HG01258.hp2 HG01515.hp1 HG01517.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 others(3): Show a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129	6	258	0.0233	-17	c.-85 others(36): Show c.-85-18466_-85-18450delATATATATGGTGTGTGT	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELP1_chr9_108862517_108939124	108872804	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00621.hp2 others(62): Show HG00140.hp2 HG00408.hp2 HG00621.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp2 HG01993.hp1 HG01993.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02257.hp2 HG02300.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18944.hp2 NA18945.hp1 NA18950.hp1 NA18954.hp1 NA18955.hp2 NA18959.hp2 NA18966.hp2 NA18972.hp2 NA18974.hp2 NA18981.hp1 NA18982.hp2 NA18993.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19064.hp1 NA19067.hp1 NA19070.hp1 NA19072.hp1 NA19080.hp2 NA19083.hp2 NA19084.hp2 NA19088.hp1 NA19090.hp2 NA20752.hp1 NA20752.hp2	a0001 a0011 a0012 others(2): Show a0001 a0011 a0012 a0016 a0024	a0001c0001 a0001c0002 a0001c0019 others(4): Show a0001c0001 a0001c0002 a0001c0019 a0011c0018 a0012c0016 a0016c0039 a0024c0028	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0002t0010 a0001c0019t0003 a0011c0018t0011 a0012c0016t0003 a0016c0039t0003 a0024c0028t0022	a0001c0001t0002g0326 a0001c0001t0002g0340 a0001c0001t0002g0346 others(56): Show a0001c0001t0002g0326 a0001c0001t0002g0340 a0001c0001t0002g0346 a0001c0001t0002g0356 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0195 a0001c0001t0011g0060 a0001c0001t0011g0061 a0001c0001t0011g0070 a0001c0001t0011g0071 a0001c0002t0010g0260 a0001c0019t0003g0090 a0011c0018t0011g0053 a0011c0018t0011g0054 a0012c0016t0003g0051 a0012c0016t0003g0052 a0016c0039t0003g0166 a0024c0028t0022g0300	65	416	0.1563	-17	c.393 others(36): Show c.3931+2074_3931+2090delTTTTTTTTTTTTTTTTT	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	36/36			chr9	TogoVar
ELP1_chr9_108862517_108939124	108900756	ACACACAC others(10): Show ACACACACACATACACGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00733.hp1 others(19): Show HG00099.hp1 HG00140.hp1 HG00733.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01358.hp1 HG01433.hp2 HG01884.hp2 HG02148.hp2 HG02300.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp1 HG03831.hp1 HG03942.hp2 HG04184.hp1 NA18971.hp2 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0019 others(1): Show a0001c0001 a0001c0002 a0001c0019 a0001c0035	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0002t0006 a0001c0019t0002 a0001c0035t0002	a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0003g0056 others(19): Show a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0078 a0001c0001t0003g0082 a0001c0001t0003g0088 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0015g0331 a0001c0002t0006g0221 a0001c0002t0006g0229 a0001c0002t0006g0230 a0001c0002t0006g0231 a0001c0002t0006g0248 a0001c0019t0002g0314 a0001c0035t0002g0315	22	416	0.0529	-17	c.201 others(34): Show c.2015-398_2015-382delGCGTGTATGTGTGTGTG	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36			chr9	TogoVar
ELP1_chr9_108862517_108939124	108930690	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0018 a0018	a0018c0026 a0018c0026	a0018c0026t0009 a0018c0026t0009	a0018c0026t0009g0362 a0018c0026t0009g0362	1	416	0.0024	-17	c.150 others(32): Show c.150+290_150+306delTTTTTTTTTTTTTTTTT	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	2/36			chr9	TogoVar
ELP4_chr11_31504767_31795324	31794423	CACACACA others(10): Show CACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0023 a0001c0001t0012g0023	1	270	0.0037	-17	c.10 others(30): Show c.10900_*10916delACACACACACACACACA	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding		4100		chr11	TogoVar
EMC10_chr19_50471507_50495871	50492030	GAGAGACA others(10): Show GAGAGACAGGGAGAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0001 a0001c0001t0084g0001	1	352	0.0028	-17	c.97 others(28): Show c.9772_*9788delAGAGACAGGGAGAGAGA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		1160		chr19	TogoVar
EMC3_chr3_9957682_9991841	9978145	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19090.hp2 NA18980.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0227 a0001c0001t0022g0228 a0001c0001t0001g0227 a0001c0001t0022g0228	2	322	0.0062	-17	c.156 others(32): Show c.156-716_156-700delTTTTTTTTTTTTTTTTT	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	1/7			chr3	TogoVar
EMC6_chr17_3663812_3674665	3674298	AAAGCGAG others(10): Show AAAGCGAGACTCCGTCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	-17	c.48 others(28): Show c.4820_*4836delAAGCGAGACTCCGTCTC	EMC6	ENSG00000127774.7	transcript	ENST00000248378.6	protein_coding		4634		chr17	TogoVar
EMCN_chr4_100390341_100523022	100434378	CCAAGCAA others(10): Show CCAAGCAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00597.hp2 others(129): Show HG00408.hp1 HG00408.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02300.hp1 HG02451.hp1 HG02602.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18747.hp1 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18955.hp2 NA18973.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA19001.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19083.hp2 NA19084.hp2 NA19087.hp1 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0010 a0002c0002t0014 a0002c0002t0021 a0002c0002t0022 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0031	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0182 others(127): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0161 a0001c0001t0002g0214 a0001c0001t0004g0154 a0001c0001t0004g0156 a0001c0001t0007g0124 a0001c0001t0007g0125 a0001c0001t0007g0126 a0001c0001t0007g0130 a0001c0001t0008g0116 a0001c0001t0008g0117 a0001c0001t0008g0118 a0001c0001t0008g0119 a0001c0001t0008g0120 a0001c0001t0012g0026 a0001c0001t0013g0008 a0001c0001t0013g0009 a0001c0001t0019g0155 a0001c0001t0020g0023 a0001c0001t0023g0005 a0002c0002t0001g0002 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0042 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0001g0150 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0237 a0002c0002t0003g0047 a0002c0002t0007g0163 a0002c0002t0007g0164 a0002c0002t0007g0165 a0002c0002t0007g0166 a0002c0002t0007g0167 a0002c0002t0007g0168 a0002c0002t0010g0089 a0002c0002t0010g0090 a0002c0002t0010g0145 a0002c0002t0010g0148 a0002c0002t0014g0094 a0002c0002t0014g0137 a0002c0002t0021g0061 a0002c0002t0022g0234 a0002c0002t0024g0097 a0002c0002t0025g0057 a0002c0002t0026g0049 a0002c0002t0031g0138	132	262	0.5038	-17	c.416 others(36): Show c.416-10991_416-10975delTTTTTTTTTTTTGCTTG	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	5/11			chr4	TogoVar
EML2_chr19_45604400_45644397	45637667	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	382	0.0026	-17	c.179 others(32): Show c.179+821_179+837delAAAAAAAAAAAAAAAAA	EML2	ENSG00000125746.18	transcript	ENST00000245925.8	protein_coding	3/18			chr19	TogoVar
EML6_chr2_54718662_54977025	54907891	TTAGATAG others(10): Show TTAGATAGATTAGATAGA	T T	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0029	1	264	0.0038	-17	c.341 others(36): Show c.3410-3053_3410-3037delTAGATAGATAGATAGAT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	24/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
ENAH_chr1_225481829_225658123	225562586	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0161 a0001c0001t0104g0161	1	308	0.0033	-17	c.171 others(34): Show c.171+4646_171+4662delGTTTTTTTTTTTTTTTT	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	2/13			chr1	TogoVar
ENAH_chr1_225481829_225658123	225615220	TTTTCGGT others(10): Show TTTTCGGTGGAGACGGGG	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0307 a0001c0001t0114g0307	1	308	0.0033	-17	c.5+3 others(32): Show c.5+37449_5+37465delCCCCGTCTCCACCGAAA	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	1/13			chr1	TogoVar
ENAH_chr1_225481829_225658123	225650848	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0013 a0001c0001t0079g0013	1	308	0.0033	-17	c.5+1 others(30): Show c.5+1821_5+1837delTTTTTTTTTTTTTTTTT	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	1/13			chr1	TogoVar
ENG_chr9_127810016_127859658	127842095	GGTCTCCT others(10): Show GGTCTCCTGGGGAGAATC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0336 a0003c0005t0001g0336	1	344	0.0029	-17	c.219 others(32): Show c.219+982_219+998delGATTCTCCCCAGGAGAC	ENG	ENSG00000106991.14	transcript	ENST00000373203.9	protein_coding	2/14			chr9	TogoVar
ENO2_chr12_6909580_6928697	6920046	ATGATATG others(10): Show ATGATATGAGTGTGACTG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	376	0.0027	-17	c.865 others(32): Show c.865+284_865+300delTGATATGAGTGTGACTG	ENO2	ENSG00000111674.9	transcript	ENST00000229277.6	protein_coding	8/11			chr12	TogoVar
ENOSF1_chr18_665318_717630	667261	GGAGATGG others(10): Show GGAGATGGTGATGGTGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	418	0.0024	-17	c.70 others(28): Show c.7027_*7043delATCACCATCACCATCTC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3056		chr18	TogoVar
ENOSF1_chr18_665318_717630	667275	TGATGGGA others(10): Show TGATGGGATGGTGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00558.hp1 others(13): Show HG00438.hp1 HG00544.hp1 HG00558.hp1 HG01496.hp2 HG02080.hp1 HG03471.hp1 NA18945.hp2 NA18948.hp1 NA18962.hp1 NA18969.hp2 NA18971.hp1 NA19007.hp2 NA19009.hp2 NA19072.hp1 NA19082.hp1 NA19083.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0007 a0001c0001 a0002c0002 a0003c0007	a0001c0001t0002 a0001c0001t0008 a0001c0001t0032 others(3): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0032 a0002c0002t0002 a0002c0002t0004 a0003c0007t0002	a0001c0001t0002g0021 a0001c0001t0002g0029 a0001c0001t0002g0033 others(13): Show a0001c0001t0002g0021 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0001t0002g0168 a0001c0001t0008g0007 a0001c0001t0008g0244 a0001c0001t0032g0020 a0002c0002t0002g0193 a0002c0002t0004g0157 a0002c0002t0004g0181 a0003c0007t0002g0378	16	418	0.0383	-17	c.70 others(28): Show c.7013_*7029delTCCATCACCATCCCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3042		chr18	TogoVar
ENOSF1_chr18_665318_717630	712476	CCGCGCTT others(10): Show CCGCGCTTACCATGGCGT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	418	0.0024	-17	c.84+ others(28): Show c.84+11_84+27delACGCCATGGTAAGCGCG	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	1/15			chr18	TogoVar
ENOX1_chr13_43208130_43791972	43247854	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03139.hp1 HG02622.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0021 a0001c0001t0005g0140 a0001c0001t0003g0021 a0001c0001t0005g0140	2	188	0.0106	-17	c.161 others(38): Show c.1612-11133_1612-11117delTATATATATATATATAT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43460814	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03831.hp1 HG04204.hp2 others(1): Show HG00621.hp1 HG03831.hp1 HG04204.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0022 a0001c0001t0002 a0001c0001t0003 a0001c0001t0022	a0001c0001t0002g0006 a0001c0001t0003g0085 a0001c0001t0003g0097 others(1): Show a0001c0001t0002g0006 a0001c0001t0003g0085 a0001c0001t0003g0097 a0001c0001t0022g0005	4	188	0.0213	-17	c.-75 others(36): Show c.-75+23178_-75+23194delATTTTTTTTTTTTTTTT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43790583	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG03831.hp1 HG03831.hp2 HG02886.hp2 HG03831.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0003g0097 a0001c0001t0004g0127 a0001c0002t0001g0108 a0001c0001t0003g0097 a0001c0001t0004g0127 a0001c0002t0001g0108	3	188	0.0160	-17	c.-42 others(28): Show c.-4233_-4217delTTTTTTTTTTTTTTTTT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding		3612		chr13	TogoVar
ENOX2_chrX_130617325_130908209	130649043	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	154	0.0065	-17	c.112 others(36): Show c.1129+7521_1129+7537delTTTTTTTTTTTTTTTTT	ENOX2	ENSG00000165675.19	transcript	ENST00000394363.6	protein_coding	10/14			chrX	TogoVar
ENPP1_chr6_131803020_131900155	131845043	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02055.hp2 HG02486.hp1 others(8): Show HG00280.hp2 HG02055.hp2 HG02486.hp1 HG02572.hp2 HG02717.hp1 HG03139.hp2 NA18522.hp2 NA18959.hp2 NA19011.hp1 NA19030.hp2 NA19087.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0002c0004 a0009c0022 a0002c0002 a0002c0004 a0009c0022	a0002c0002t0002 a0002c0002t0004 a0002c0002t0008 others(4): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0008 a0002c0002t0020 a0002c0004t0023 a0002c0004t0040 a0009c0022t0010	a0002c0002t0002g0209 a0002c0002t0002g0269 a0002c0002t0002g0290 others(8): Show a0002c0002t0002g0209 a0002c0002t0002g0269 a0002c0002t0002g0290 a0002c0002t0004g0206 a0002c0002t0008g0207 a0002c0002t0008g0208 a0002c0002t0020g0288 a0002c0004t0023g0098 a0002c0004t0023g0099 a0002c0004t0040g0289 a0009c0022t0010g0094	11	292	0.0377	-17	c.241 others(34): Show c.241-2720_241-2704delTTTTTTTTTTTTTTTTT	ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP6_chr4_184083706_184222873	184119734	GGCTATTC others(10): Show GGCTATTCTCATGATATT	G G	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0041 a0002c0001t0001g0041	1	320	0.0031	-17	c.534 others(34): Show c.534-1851_534-1835delAATATCATGAGAATAGC	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	3/7			chr4	TogoVar

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