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
EIF4B_chr12_53001456_53047215	53030413	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG01106.hp1 others(19): Show HG00280.hp1 HG00280.hp2 HG01106.hp1 HG01256.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01975.hp1 HG02040.hp1 HG02056.hp2 HG02523.hp2 HG03669.hp1 HG03688.hp2 HG04115.hp2 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA19076.hp2 NA19085.hp2 NA19090.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0007t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0040 others(19): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0075 a0001c0001t0001g0093 a0001c0001t0001g0100 a0001c0001t0001g0113 a0001c0001t0001g0126 a0001c0001t0001g0142 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0213 a0001c0001t0016g0092 a0001c0007t0001g0101	22	372	0.0591	22	c.979 others(39): Show c.979+2229_979+2250dupTTTTTTTTTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4E3_chr3_71670414_71730402	71729798	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0291	1	398	0.0025	22	c.-44 others(33): Show c.-4453_-4432dupCACACACACACACACACACACA	EIF4E3	ENSG00000163412.13	transcript	ENST00000425534.8	protein_coding		4397		chr3	TogoVar
EIF4EBP1_chr8_38025534_38065365	38060321	T T	TCCCCAAG others(15): Show TCCCCAAGAGAGGAAATAAAAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0141 a0001c0001t0005g0141	1	344	0.0029	22	c.38 others(31): Show c.388_*409dupCCCAAGAGAGGAAATAAAAGCC	EIF4EBP1	ENSG00000187840.5	transcript	ENST00000338825.5	protein_coding	3/3	410	INFO_REALIGN_3_PRIME	chr8	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31441550	G G	GAAAAAAA others(15): Show GAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	366	0.0027	22	c.255 others(39): Show c.2551+202_2551+223dupTTTTTTTTTTTTTTTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	17/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03139.hp2 HG02109.hp1 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0003t0001 a0001c0004t0001	a0001c0003t0001g0253 a0001c0004t0001g0112 a0001c0003t0001g0253 a0001c0004t0001g0112	2	366	0.0055	22	c.299 others(37): Show c.299-733_299-732insATATATATATTTTTTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	366	0.0027	22	c.299 others(37): Show c.299-733_299-732insATATATATATATATATTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03669.hp1 HG02698.hp2 HG03669.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0321 a0001c0003t0001g0351 a0001c0003t0001g0321 a0001c0003t0001g0351	2	366	0.0055	22	c.299 others(37): Show c.299-733_299-732insATATATATATATATATATATTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4G3_chr1_20801479_21181897	20863378	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0235 a0001c0001t0004g0235	1	312	0.0032	22	c.300 others(41): Show c.3007-1068_3007-1047dupTTTTTTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	22/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21083037	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18979.hp1 NA19070.hp1 NA18947.hp2 NA18979.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0229 a0001c0001t0004g0231 a0001c0001t0004g0235 a0001c0001t0004g0229 a0001c0001t0004g0231 a0001c0001t0004g0235	3	312	0.0096	22	c.-19 others(41): Show c.-196+6079_-196+6100dupTTTTTTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21117736	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02015.hp2 HG02300.hp2 others(10): Show HG01074.hp1 HG02015.hp2 HG02300.hp2 HG02683.hp2 HG03130.hp1 NA18939.hp2 NA18960.hp1 NA18982.hp2 NA19000.hp1 NA19010.hp2 NA19084.hp1 NA19087.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0135 others(10): Show a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0194 a0001c0001t0001g0203 a0001c0001t0001g0310 a0001c0001t0002g0046 a0001c0001t0003g0248 a0001c0001t0010g0202	13	312	0.0417	22	c.-27 others(43): Show c.-271-28545_-271-28524dupTTTTTTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIF5B_chr2_99332389_99406326	99338993	A A	AATATATA others(15): Show AATATATATATATACAAATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(99): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00738.hp2 HG01099.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01516.hp1 HG01884.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02040.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02273.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03209.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03688.hp2 HG03710.hp2 HG03927.hp1 HG04115.hp1 HG04199.hp1 HG06807.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18956.hp1 NA18957.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18971.hp2 NA18972.hp1 NA18978.hp1 NA18979.hp2 NA18983.hp2 NA18985.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA19002.hp2 NA19005.hp2 NA19010.hp1 NA19058.hp2 NA19064.hp1 NA19066.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp2 NA19086.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0002 a0008 a0002 a0008	a0002c0001 a0002c0007 a0008c0013 a0002c0001 a0002c0007 a0008c0013	a0002c0001t0002 a0002c0001t0005 a0002c0001t0018 others(3): Show a0002c0001t0002 a0002c0001t0005 a0002c0001t0018 a0002c0001t0019 a0002c0007t0005 a0008c0013t0020	a0002c0001t0002g0019 a0002c0001t0002g0192 a0002c0001t0002g0197 others(96): Show a0002c0001t0002g0019 a0002c0001t0002g0192 a0002c0001t0002g0197 a0002c0001t0002g0204 a0002c0001t0002g0205 a0002c0001t0002g0206 a0002c0001t0002g0207 a0002c0001t0002g0208 a0002c0001t0002g0209 a0002c0001t0002g0210 a0002c0001t0002g0211 a0002c0001t0002g0212 a0002c0001t0002g0213 a0002c0001t0002g0214 a0002c0001t0002g0215 a0002c0001t0002g0216 a0002c0001t0002g0217 a0002c0001t0002g0218 a0002c0001t0002g0219 a0002c0001t0002g0221 a0002c0001t0002g0225 a0002c0001t0002g0235 a0002c0001t0002g0237 a0002c0001t0002g0238 a0002c0001t0002g0239 a0002c0001t0002g0240 a0002c0001t0002g0241 a0002c0001t0002g0242 a0002c0001t0002g0243 a0002c0001t0002g0244 a0002c0001t0002g0245 a0002c0001t0002g0246 a0002c0001t0002g0247 a0002c0001t0002g0248 a0002c0001t0002g0249 a0002c0001t0002g0250 a0002c0001t0002g0251 a0002c0001t0002g0252 a0002c0001t0002g0253 a0002c0001t0002g0254 a0002c0001t0002g0255 a0002c0001t0002g0256 a0002c0001t0002g0257 a0002c0001t0002g0258 a0002c0001t0002g0259 a0002c0001t0002g0260 a0002c0001t0002g0261 a0002c0001t0002g0262 a0002c0001t0002g0263 a0002c0001t0002g0264 a0002c0001t0002g0265 a0002c0001t0002g0266 a0002c0001t0002g0267 a0002c0001t0002g0268 a0002c0001t0002g0269 a0002c0001t0002g0270 a0002c0001t0002g0271 a0002c0001t0002g0272 a0002c0001t0002g0273 a0002c0001t0002g0282 a0002c0001t0002g0283 a0002c0001t0002g0285 a0002c0001t0002g0286 a0002c0001t0002g0287 a0002c0001t0002g0288 a0002c0001t0002g0289 a0002c0001t0002g0290 a0002c0001t0002g0300 a0002c0001t0002g0301 a0002c0001t0002g0303 a0002c0001t0005g0017 a0002c0001t0005g0018 a0002c0001t0005g0190 a0002c0001t0005g0194 a0002c0001t0005g0195 a0002c0001t0005g0196 a0002c0001t0005g0198 a0002c0001t0005g0199 a0002c0001t0005g0200 a0002c0001t0005g0201 a0002c0001t0005g0202 a0002c0001t0005g0203 a0002c0001t0005g0220 a0002c0001t0005g0222 a0002c0001t0005g0223 a0002c0001t0005g0224 a0002c0001t0005g0227 a0002c0001t0005g0228 a0002c0001t0005g0229 a0002c0001t0005g0231 a0002c0001t0005g0232 a0002c0001t0005g0233 a0002c0001t0005g0234 a0002c0001t0005g0284 a0002c0001t0018g0193 a0002c0001t0019g0236 a0002c0007t0005g0230 a0002c0007t0005g0274 a0008c0013t0020g0226	102	342	0.2983	22	c.35+ others(37): Show c.35+1415_35+1416insTACAAATATATATATATATATA	EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIPR1_chr2_3183970_3382818	3199060	G G	GCCCCCCC others(15): Show GCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0119 a0001c0001t0003g0119	1	250	0.0040	22	c.517 others(39): Show c.517-2044_517-2043insGGGGGGGGGGGGGGGGGGGGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	5/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3269655	T T	TCAATCAT others(15): Show TCAATCATCGCACTCAATCATCG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0173 a0001c0001t0004g0173	1	250	0.0040	22	c.260 others(41): Show c.260-12201_260-12200insCGATGATTGAGTGCGATGATTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELAPOR1_chr1_109109115_109211781	109113451	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGAGAGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18982.hp1 NA18959.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0053 a0001c0001t0005g0058 a0001c0001t0002g0053 a0001c0001t0005g0058	2	230	0.0087	22	c.-73 others(31): Show c.-733_-732insGAGAGAGAGAGAGAGAGGGAGT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		663		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109113467	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	230	0.0044	22	c.-71 others(31): Show c.-717_-716insGAGAGAGAGAGAGAGAGAGAGG	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		647		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109144061	A A	ATATATAT others(15): Show ATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03225.hp1 HG02976.hp1 HG03225.hp1	a0003 a0003	a0003c0004 a0003c0030 a0003c0004 a0003c0030	a0003c0004t0004 a0003c0030t0004 a0003c0004t0004 a0003c0030t0004	a0003c0004t0004g0068 a0003c0030t0004g0081 a0003c0004t0004g0068 a0003c0030t0004g0081	2	230	0.0087	22	c.154 others(41): Show c.154-17832_154-17831insATATATATTTTTTTTTTTTTTT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109144061	A A	ATATATAT others(15): Show ATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0071 a0003c0004t0004g0071	1	230	0.0044	22	c.154 others(41): Show c.154-17832_154-17831insATATATTTTTTTTTTTTTTTTT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109144061	A A	ATATATTT others(15): Show ATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0080 a0003c0004t0004g0080	1	230	0.0044	22	c.154 others(41): Show c.154-17832_154-17831insATATTTTTTTTTTTTTTTTTTT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR2_chr7_86871906_87064654	87045392	A A	ATGCCCAC others(15): Show ATGCCCACAATGACTGATAGAAT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0034 a0001c0001t0006g0034	1	196	0.0051	22	c.189 others(41): Show c.189+13932_189+13933insATTCTATCAGTCATTGTGGGCA	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	1/21			chr7	TogoVar
ELAVL1_chr19_7953573_8010641	7957359	G G	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00621.hp1 HG00140.hp2 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0167 a0001c0001t0002g0003 a0001c0001t0002g0167	2	276	0.0073	22	c.61 others(33): Show c.6123_*6124insTTCTTTCTTTCTTTCTTTCTTT	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1213		chr19	TogoVar
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03017.hp1 HG03225.hp2 others(4): Show HG02717.hp2 HG03017.hp1 HG03225.hp2 HG03486.hp1 HG03490.hp1 NA18906.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0015 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0018 a0001c0002t0002	a0001c0001t0001g0073 a0001c0001t0001g0217 a0001c0001t0015g0117 others(4): Show a0001c0001t0001g0073 a0001c0001t0001g0217 a0001c0001t0015g0117 a0001c0001t0018g0299 a0001c0002t0002g0018 a0001c0002t0002g0032 a0001c0002t0002g0039	7	352	0.0199	22	c.230 others(39): Show c.230-4002_230-3981dupTTTTTTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23759754	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0015	1	352	0.0028	22	c.229 others(39): Show c.229+2230_229+2251dupTATATATATATATATATATATA	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23830601	T T	TACACACA others(15): Show TACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG03017.hp1 NA18522.hp1 others(2): Show HG00280.hp2 HG03017.hp1 NA18522.hp1 NA18974.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0070 others(2): Show a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0312	5	352	0.0142	22	c.-48 others(33): Show c.-4812_-4811insGTGTGTGTGTGTGTGTGTGTGT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding		4362		chr9	TogoVar
ELAVL3_chr19_11446326_11486046	11464123	G G	GTCTCTCT others(15): Show GTCTCTCTCTCTCTGTCTCTCTC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0019 a0001c0001t0034g0019	1	318	0.0031	22	c.333 others(39): Show c.333+2048_333+2049insGAGAGAGACAGAGAGAGAGAGA	ELAVL3	ENSG00000196361.10	transcript	ENST00000359227.8	protein_coding	3/6			chr19	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0114 a0002c0002t0003g0114	1	342	0.0029	22	c.238 others(41): Show c.238+10581_238+10602dupTGTGTGTGTGTGTGTGTGTGTG	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139151031	A A	AAGAAAAG others(15): Show AAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03471.hp1 HG02572.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0208 a0001c0001t0003g0209	2	342	0.0059	22	c.-25 others(43): Show c.-251-11535_-251-11534insCTTTTCTTTTCTTTTCTTTTCT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELF4_chrX_130058955_130115497	130102876	G G	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02280.hp1 HG02717.hp1 others(2): Show HG02135.hp1 HG02280.hp1 HG02717.hp1 HG02970.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0010 a0001c0001t0005g0004 a0001c0001t0005g0122 others(2): Show a0001c0001t0002g0010 a0001c0001t0005g0004 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0129	5	274	0.0183	22	c.-21 others(41): Show c.-210+7448_-210+7449insTTCTTTCTTTCTTTCTTTCTTT	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	1/8			chrX	TogoVar
ELF4_chrX_130058955_130115497	130102919	A A	AAAGAAAG others(15): Show AAAGAAAGAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0126 a0001c0001t0011g0126	1	274	0.0037	22	c.-21 others(41): Show c.-210+7405_-210+7406insCTTTCTTTCTTTCTTCTTTCTT	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	1/8			chrX	TogoVar
ELF5_chr11_34473791_34518794	34473975	G G	GTCTTTTG others(15): Show GTCTTTTGTGACTGGCTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	436	0.0023	22	c.62 others(33): Show c.6242_*6243insGAAAGAAGCCAGTCACAAAAGA	ELF5	ENSG00000135374.11	transcript	ENST00000257832.7	protein_coding		4815		chr11	TogoVar
ELFN2_chr22_37362960_37432479	37431867	A A	AACACACA others(15): Show AACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0225 a0001c0001t0005g0225	1	334	0.0030	22	c.-51 others(33): Show c.-5184_-5183insGTGTGTGTGTGTGTGTGTGTGT	ELFN2	ENSG00000166897.16	transcript	ENST00000402918.7	protein_coding		4389		chr22	TogoVar
ELK3_chr12_96189375_96274824	96271489	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG03239.hp2 HG01192.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0044 a0001c0001t0006g0274 a0001c0001t0004g0044 a0001c0001t0006g0274	2	354	0.0057	22	c.43 others(33): Show c.4309_*4310insTGTGTGTGTGTGTGTGTGTGTG	ELK3	ENSG00000111145.8	transcript	ENST00000228741.8	protein_coding		1666		chr12	TogoVar
ELL2_chr5_95880098_95966851	95907296	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0036 a0001c0003t0024g0036	1	314	0.0032	22	c.482 others(37): Show c.482-515_482-514insAAAAAAAAAATATATATATATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	4/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927426	C C	CACACACA others(15): Show CACACACACGTGTATATAGACAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	314	0.0032	22	c.196 others(39): Show c.196-7882_196-7881insATGTCTATATACACGTGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927452	C C	CACACACG others(15): Show CACACACGTGTGTATATAGACAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA19058.hp2 HG01168.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0214 a0001c0001t0002g0210 a0001c0001t0002g0214	2	314	0.0064	22	c.196 others(39): Show c.196-7908_196-7907insATGTCTATATACACACGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927550	C C	CACACACG others(15): Show CACACACGTGTGTATATAGACAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02300.hp2 HG01069.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0237 a0001c0001t0002g0233 a0001c0001t0002g0237	2	314	0.0064	22	c.196 others(39): Show c.196-8006_196-8005insATGTCTATATACACACGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927772	C C	CATGTGTA others(15): Show CATGTGTATATATAGACATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18986.hp2 NA19060.hp1 HG02818.hp1 NA18986.hp2 NA19060.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0013 a0002c0002t0001 a0002c0002t0013	a0002c0002t0001g0070 a0002c0002t0001g0090 a0002c0002t0013g0062 a0002c0002t0001g0070 a0002c0002t0001g0090 a0002c0002t0013g0062	3	314	0.0096	22	c.196 others(39): Show c.196-8228_196-8227insATATATGTCTATATATACACAT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL_chr19_18437663_18527070	18454840	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 NA19240.hp2 others(1): Show HG01891.hp2 HG02451.hp1 NA19240.hp2 NA20300.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0016 a0001c0001 a0009c0016	a0001c0001t0001 a0009c0016t0001 a0001c0001t0001 a0009c0016t0001	a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0203 others(1): Show a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0203 a0009c0016t0001g0011	4	244	0.0164	22	c.870 others(39): Show c.870-3193_870-3192insTTTTTTTTTTTTTTTTTTTTTT	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	6/11			chr19	TogoVar
ELMO1_chr7_36847906_37453864	36849025	C C	CTCTTTTT others(15): Show CTCTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0028 a0001c0002t0003g0028	1	92	0.0109	22	c.65 others(33): Show c.6525_*6526insAAAAAAAAAAAAAAAAAAAAGA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding		3880		chr7	TogoVar
ELMO1_chr7_36847906_37453864	36897336	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp1 HG01123.hp1 others(16): Show HG00735.hp2 HG01106.hp1 HG01123.hp1 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01358.hp2 HG01934.hp1 HG01978.hp1 HG02486.hp1 HG02559.hp1 HG02630.hp1 HG02818.hp1 HG02895.hp1 HG02922.hp2 HG03453.hp2 HG03492.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0002c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0002t0001 a0001c0002t0004 a0001c0003t0002 a0001c0004t0002 a0001c0005t0002 a0001c0006t0004 a0002c0008t0004	a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0029 others(16): Show a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0068 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0004g0046 a0001c0001t0010g0084 a0001c0001t0014g0088 a0001c0001t0015g0061 a0001c0001t0016g0060 a0001c0002t0001g0010 a0001c0002t0001g0081 a0001c0002t0004g0047 a0001c0003t0002g0020 a0001c0004t0002g0086 a0001c0005t0002g0042 a0001c0006t0004g0058 a0002c0008t0004g0034	19	92	0.2065	22	c.143 others(41): Show c.1438-2320_1438-2319insTACACACACACACACACACACA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	36897349	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0064 a0001c0002t0007g0064	1	92	0.0109	22	c.143 others(41): Show c.1438-2333_1438-2332insTCACACACACACACACACACAC	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37161905	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02080.hp1 HG03453.hp1 others(2): Show HG01261.hp1 HG02080.hp1 HG03453.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0007 a0001c0002t0011	a0001c0001t0001g0009 a0001c0001t0003g0026 a0001c0001t0008g0092 others(2): Show a0001c0001t0001g0009 a0001c0001t0003g0026 a0001c0001t0008g0092 a0001c0002t0007g0001 a0001c0002t0011g0039	5	92	0.0544	22	c.108 others(43): Show c.1087-28693_1087-28672dupATATATATATATATATATATAT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	13/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37247895	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	92	0.0109	22	c.414 others(39): Show c.414-3526_414-3505dupCACACACACACACACACACACA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	6/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37417683	C C	CACACACA others(15): Show CACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01123.hp1 others(4): Show HG00735.hp1 HG00741.hp2 HG01123.hp1 HG01192.hp1 HG01258.hp1 HG01361.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0003t0002 a0001c0003t0008	a0001c0001t0003g0044 a0001c0002t0001g0054 a0001c0002t0002g0048 others(4): Show a0001c0001t0003g0044 a0001c0002t0001g0054 a0001c0002t0002g0048 a0001c0002t0004g0047 a0001c0002t0006g0021 a0001c0003t0002g0050 a0001c0003t0008g0045	7	92	0.0761	22	c.-74 others(41): Show c.-74+30991_-74+30992insTTGTGTGTGTGTGTGTGTGTGT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	1/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGCGGG others(15): Show GGGGCGGGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01074.hp2 HG03710.hp2 others(2): Show HG00099.hp1 HG01074.hp2 HG03710.hp2 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0005t0001	a0001c0001t0001g0011 a0001c0001t0001g0127 a0001c0001t0004g0239 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0127 a0001c0001t0004g0239 a0001c0001t0009g0128 a0001c0005t0001g0126	5	312	0.0160	22	c.-47 others(33): Show c.-4772_-4771insACACACACACACACACCCGCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGGG others(15): Show GGGGGGGGGAGGGGTTTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0151 a0001c0001t0012g0151	1	312	0.0032	22	c.-47 others(33): Show c.-4772_-4771insACACACAAACCCCTCCCCCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMOD1_chr11_107586147_107671779	107626660	C C	CTTTCCCT others(15): Show CTTTCCCTCTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(152): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18974.hp1 NA18975.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp2 NA18989.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19058.hp2 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19085.hp2 NA19091.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0002 a0001c0008 others(4): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003 a0003c0007 a0005c0004 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0011 a0001c0002t0012 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0008t0004 a0002c0003t0001 a0002c0003t0008 a0003c0007t0002 a0005c0004t0001 a0006c0006t0002	a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 others(150): Show a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0117 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0290 a0001c0001t0001g0296 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0332 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0030 a0001c0001t0002g0048 a0001c0001t0002g0052 a0001c0001t0002g0074 a0001c0001t0002g0080 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0131 a0001c0001t0002g0147 a0001c0001t0002g0168 a0001c0001t0002g0171 a0001c0001t0002g0178 a0001c0001t0002g0185 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0239 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0299 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0313 a0001c0001t0002g0333 a0001c0001t0003g0124 a0001c0001t0003g0149 a0001c0001t0003g0188 a0001c0001t0003g0195 a0001c0001t0003g0331 a0001c0001t0008g0023 a0001c0001t0008g0061 a0001c0001t0008g0082 a0001c0001t0008g0138 a0001c0001t0008g0157 a0001c0001t0008g0160 a0001c0001t0008g0192 a0001c0001t0008g0198 a0001c0001t0008g0284 a0001c0001t0008g0334 a0001c0001t0009g0121 a0001c0001t0009g0130 a0001c0001t0009g0132 a0001c0001t0009g0225 a0001c0001t0009g0247 a0001c0001t0009g0248 a0001c0001t0009g0266 a0001c0001t0010g0043 a0001c0001t0010g0134 a0001c0001t0010g0230 a0001c0001t0010g0301 a0001c0001t0013g0177 a0001c0001t0021g0161 a0001c0001t0024g0308 a0001c0001t0025g0143 a0001c0001t0026g0234 a0001c0001t0028g0256 a0001c0002t0004g0335 a0001c0002t0005g0001 a0001c0002t0005g0119 a0001c0002t0005g0145 a0001c0002t0006g0297 a0001c0002t0007g0049 a0001c0002t0007g0077 a0001c0002t0007g0100 a0001c0002t0011g0293 a0001c0002t0012g0142 a0001c0002t0015g0283 a0001c0002t0016g0269 a0001c0002t0017g0262 a0001c0008t0004g0055 a0002c0003t0001g0190 a0002c0003t0008g0015 a0003c0007t0002g0089 a0005c0004t0001g0053 a0006c0006t0002g0186	155	342	0.4532	22	c.18- others(37): Show c.18-3753_18-3752insCCTCTCTCTTTCTTTCTTTTTC	ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELOC_chr8_73940119_73977191	73976049	A A	AGGCGGCA others(15): Show AGGCGGCAGGCGGGCGGCAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00423.hp1 others(74): Show HG00099.hp1 HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01256.hp1 HG01433.hp1 HG01433.hp2 HG01952.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp1 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02148.hp1 HG02257.hp2 HG02293.hp1 HG02300.hp2 HG02559.hp2 HG02647.hp2 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03516.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp1 NA18942.hp2 NA18945.hp2 NA18948.hp1 NA18954.hp2 NA18963.hp2 NA18969.hp1 NA18969.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18991.hp1 NA18998.hp1 NA19000.hp2 NA19004.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19066.hp1 NA19075.hp1 NA19075.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(64): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0233 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0259 a0001c0001t0001g0276 a0001c0001t0001g0282 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0002g0009 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0003g0117 a0001c0001t0003g0134 a0001c0001t0014g0184	77	404	0.1906	22	c.-40 others(33): Show c.-4045_-4024dupCGCCTGCCGCCCGCCTGCCGCC	ELOC	ENSG00000154582.18	transcript	ENST00000520242.6	protein_coding		3859		chr8	TogoVar
ELOVL2_chr6_10975759_11049305	10978305	A A	ATATATAT others(15): Show ATATATATATATATAATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	380	0.0026	22	c.54 others(33): Show c.5475_*5476insAAAAAAATTATATATATATATA	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2453		chr6	TogoVar
ELOVL2_chr6_10975759_11049305	10978310	T T	TATATATA others(15): Show TATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	380	0.0026	22	c.54 others(33): Show c.5470_*5471insTTATATATATATATATATATAT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2448		chr6	TogoVar
ELOVL2_chr6_10975759_11049305	11043404	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA19065.hp1 NA19068.hp2 HG02074.hp2 NA19065.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0071 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0071	3	380	0.0079	22	c.3+8 others(33): Show c.3+802_3+823dupGTGTGTGTGTGTGTGTGTGTGT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar

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