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
ELL_chr19_18437663_18527070	18462204	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG02717.hp1 others(2): Show HG01891.hp2 HG02280.hp1 HG02717.hp1 NA19240.hp2 NA20300.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0016 a0001c0001 a0009c0016	a0001c0001t0001 a0009c0016t0001 a0001c0001t0001 a0009c0016t0001	a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 others(2): Show a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0009c0016t0001g0011	5	244	0.0205	-18	c.470 others(33): Show c.470-370_470-353delTACACACACACACACACA	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	4/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18467631	CCACACAC others(11): Show CCACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0132 a0002c0002t0001g0132	1	244	0.0041	-18	c.184 others(35): Show c.184-1731_184-1714delTGTGTGTGTGTGTGTGTG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	2/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18491249	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00642.hp2 others(50): Show HG00280.hp2 HG00408.hp2 HG00642.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG02004.hp2 HG02109.hp2 HG02148.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03209.hp1 HG03225.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG04115.hp1 NA18747.hp1 NA18945.hp2 NA18970.hp2 NA18975.hp2 NA19002.hp2 NA19030.hp1 NA19067.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0009	a0001c0001 a0001c0015 a0003c0006 others(2): Show a0001c0001 a0001c0015 a0003c0006 a0005c0009 a0009c0016	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0015t0001 a0003c0006t0001 a0005c0009t0004 a0009c0016t0001	a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 others(50): Show a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0012g0228 a0001c0001t0014g0208 a0001c0001t0016g0159 a0001c0015t0001g0220 a0003c0006t0001g0221 a0003c0006t0001g0226 a0005c0009t0004g0154 a0009c0016t0001g0011	53	244	0.2172	-18	c.136 others(37): Show c.136-18385_136-18368delAAAAAAAAAAAAAAAAAA	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18509591	GCGCACAT others(11): Show GCGCACATACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00735.hp2 others(5): Show HG00280.hp2 HG00408.hp2 HG00735.hp2 HG01261.hp2 HG02132.hp2 NA18945.hp2 NA18970.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0215 a0001c0001t0001g0216 others(5): Show a0001c0001t0001g0185 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238	8	244	0.0328	-18	c.135 others(37): Show c.135+12312_135+12329delTGTGTGTGTGTATGTGCG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18509593	GCACATAC others(11): Show GCACATACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01891.hp1 HG02630.hp2 others(9): Show HG00733.hp2 HG01891.hp1 HG02630.hp2 HG02922.hp2 HG03942.hp2 HG04115.hp1 NA18522.hp1 NA18747.hp1 NA19043.hp2 NA19074.hp1 NA19090.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(9): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0149 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0235 a0002c0002t0001g0121 a0002c0002t0001g0132 a0002c0002t0001g0141 a0002c0002t0001g0243	12	244	0.0492	-18	c.135 others(37): Show c.135+12310_135+12327delTGTGTGTGTGTGTATGTG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18509598	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01952.hp1 HG00733.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0093 a0001c0001t0002g0039 a0001c0001t0002g0093	2	244	0.0082	-18	c.135 others(37): Show c.135+12305_135+12322delGTGTGTGTGTGTGTGTGT	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELMO1_chr7_36847906_37453864	36859113	AAGAGAAA others(11): Show AAGAGAAACCTGTAGATTC	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0012 a0001c0001t0017g0012	1	92	0.0109	-18	c.198 others(37): Show c.1983+2528_1983+2545delGAATCTACAGGTTTCTCT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	21/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	36953839	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02896.hp2 HG00735.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0072 a0001c0002t0001g0054 a0001c0001t0003g0072 a0001c0002t0001g0054	2	92	0.0217	-18	c.143 others(39): Show c.1438-58840_1438-58823delCACACACACACACACACA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37188437	CACACACA others(11): Show CACACACACACACACGCAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03453.hp2 HG03471.hp1 HG02922.hp2 HG03453.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 a0001c0001t0001 a0001c0001t0006 a0001c0001t0016	a0001c0001t0001g0005 a0001c0001t0006g0004 a0001c0001t0016g0060 a0001c0001t0001g0005 a0001c0001t0006g0004 a0001c0001t0016g0060	3	92	0.0326	-18	c.108 others(39): Show c.1086+22931_1086+22948delTTGCGTGTGTGTGTGTGT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	13/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37192968	GAGATATA others(11): Show GAGATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02717.hp2 HG03492.hp2 others(1): Show HG01123.hp1 HG02717.hp2 HG03492.hp2 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 others(1): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005	a0001c0002t0002g0087 a0001c0002t0003g0038 a0001c0002t0004g0047 others(1): Show a0001c0002t0002g0087 a0001c0002t0003g0038 a0001c0002t0004g0047 a0001c0002t0005g0056	4	92	0.0435	-18	c.108 others(39): Show c.1086+18400_1086+18417delATATATATATATATATCT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	13/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46369961	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	312	0.0032	-18	c.188 others(35): Show c.1884+464_1884+481delACACACACACACACACAC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding	20/21			chr20	TogoVar
ELMOD1_chr11_107586147_107671779	107590332	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG02300.hp2 others(3): Show HG01168.hp1 HG01169.hp2 HG02300.hp2 HG03041.hp1 HG03516.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 a0001c0002t0004 a0001c0002t0015	a0001c0001t0002g0103 a0001c0001t0005g0128 a0001c0001t0005g0135 others(3): Show a0001c0001t0002g0103 a0001c0001t0005g0128 a0001c0001t0005g0135 a0001c0002t0002g0276 a0001c0002t0004g0270 a0001c0002t0015g0283	6	342	0.0175	-18	c.-11 others(29): Show c.-1162_-1145delTCTCTCTCTCTCTCTCTC	ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding		814		chr11	TogoVar
ELMOD2_chr4_140519168_140558770	140535137	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00558.hp2 others(44): Show HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00673.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02155.hp2 HG02258.hp1 HG02630.hp1 HG02717.hp1 HG02886.hp2 HG03471.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18954.hp1 NA18960.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18979.hp2 NA18980.hp1 NA18985.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp1 NA18994.hp2 NA19000.hp2 NA19001.hp2 NA19005.hp1 NA19007.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0003c0004t0003	a0001c0001t0002g0057 a0001c0001t0003g0002 a0001c0001t0003g0014 others(19): Show a0001c0001t0002g0057 a0001c0001t0003g0002 a0001c0001t0003g0014 a0001c0001t0003g0018 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0089 a0001c0001t0003g0094 a0001c0001t0018g0002 a0003c0004t0003g0002	47	370	0.1270	-18	c.172 others(33): Show c.172-573_172-556delTCTCTCTCTCTCTCTCTC	ELMOD2	ENSG00000179387.10	transcript	ENST00000323570.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ELOA_chr1_23738471_23767059	23758247	ATTTATTT others(11): Show ATTTATTTATTTATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	400	0.0025	-18	c.225 others(37): Show c.2257+1126_2257+1143delATTTATTTATTTTTTTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELOA_chr1_23738471_23767059	23765206	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG02055.hp1 HG03209.hp2 others(2): Show HG01943.hp1 HG02055.hp1 HG03209.hp2 HG03540.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009	a0001c0001t0002 a0001c0001t0011 a0001c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0011 a0001c0002t0001 a0001c0005t0008 a0001c0009t0008	a0001c0001t0002g0101 a0001c0001t0011g0108 a0001c0002t0001g0019 others(2): Show a0001c0001t0002g0101 a0001c0001t0011g0108 a0001c0002t0001g0019 a0001c0005t0008g0253 a0001c0009t0008g0071	5	400	0.0125	-18	c.56 others(29): Show c.5634_*5651delTTTTTTTTTTTTTTTTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding		3148		chr1	TogoVar
ELOC_chr8_73940119_73977191	73973146	TAGATAAC others(11): Show TAGATAACAGGCTATCTAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	404	0.0025	-18	c.-11 others(29): Show c.-1138_-1121delCTAGATAGCCTGTTATCT	ELOC	ENSG00000154582.18	transcript	ENST00000520242.6	protein_coding		956		chr8	TogoVar
ELOF1_chr19_11548046_11564230	11553582	TACACACA others(11): Show TACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG01168.hp2 HG01952.hp2 others(30): Show HG01109.hp1 HG01168.hp2 HG01952.hp2 HG02055.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02630.hp2 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA18522.hp2 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0045 others(1): Show a0001c0001t0004 a0001c0001t0016 a0001c0001t0045 a0001c0001t0046	a0001c0001t0004g0005 a0001c0001t0004g0048 a0001c0001t0004g0112 others(11): Show a0001c0001t0004g0005 a0001c0001t0004g0048 a0001c0001t0004g0112 a0001c0001t0004g0114 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0129 a0001c0001t0016g0032 a0001c0001t0016g0116 a0001c0001t0016g0117 a0001c0001t0016g0123 a0001c0001t0045g0120 a0001c0001t0046g0121	33	412	0.0801	-18	c.14 others(27): Show c.146_*163delGTGTGTGTGTGTGTGTGT	ELOF1	ENSG00000130165.11	transcript	ENST00000252445.8	protein_coding	4/4	146		chr19	TogoVar
ELOVL5_chr6_53262404_53353950	53319270	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00423.hp1 others(97): Show HG00099.hp1 HG00280.hp1 HG00423.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01884.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02738.hp2 HG02896.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18951.hp2 NA18954.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18989.hp2 NA18993.hp1 NA19002.hp1 NA19004.hp1 NA19006.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19057.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19067.hp2 NA19068.hp1 NA19077.hp2 NA19082.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(92): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0276 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0003g0093 a0001c0001t0003g0101 a0001c0001t0003g0103 a0001c0001t0003g0116 a0001c0001t0003g0121 a0001c0001t0007g0131 a0001c0001t0007g0135 a0001c0001t0008g0153 a0001c0001t0008g0154	100	320	0.3125	-18	c.-8- others(35): Show c.-8-23581_-8-23564delTTTTTTTTTTTTTTTTTT	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110084551	CACACACA others(11): Show CACACACACACAGATATAT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18949.hp2 NA18974.hp1 others(2): Show HG00609.hp2 NA18949.hp2 NA18974.hp1 NA19000.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0013 a0001c0001t0031 a0001c0001t0006 a0001c0001t0013 a0001c0001t0031	a0001c0001t0006g0113 a0001c0001t0006g0117 a0001c0001t0013g0266 others(2): Show a0001c0001t0006g0113 a0001c0001t0006g0117 a0001c0001t0013g0266 a0001c0001t0013g0283 a0001c0001t0031g0320	5	338	0.0148	-18	c.221 others(37): Show c.221+20928_221+20945delATATATCTGTGTGTGTGT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL7_chr5_60746791_60849269	60802061	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18939.hp1 NA18951.hp2 others(3): Show HG02135.hp1 NA18939.hp1 NA18951.hp2 NA18962.hp1 NA18967.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0210 others(3): Show a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0221	6	258	0.0233	-18	c.-85 others(35): Show c.-85-2849_-85-2832delATATATATATATATATAT	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELOVL7_chr5_60746791_60849269	60802101	TATATATA others(11): Show TATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01496.hp1 HG01981.hp2 others(3): Show HG00280.hp2 HG01496.hp1 HG01981.hp2 HG03704.hp1 HG04199.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0014 a0001c0001t0007g0001 a0001c0001t0007g0031 others(2): Show a0001c0001t0005g0014 a0001c0001t0007g0001 a0001c0001t0007g0031 a0001c0001t0007g0032 a0001c0001t0007g0036	6	258	0.0233	-18	c.-85 others(35): Show c.-85-2889_-85-2872delGTATATATATATATATAT	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELP1_chr9_108862517_108939124	108872804	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00558.hp2 others(72): Show HG00099.hp2 HG00438.hp1 HG00558.hp2 HG00621.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01978.hp2 HG02004.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02148.hp2 HG02165.hp1 HG02293.hp1 HG02300.hp2 HG02735.hp1 HG03209.hp2 HG03239.hp2 HG03490.hp1 HG03710.hp1 NA18747.hp1 NA18942.hp1 NA18944.hp1 NA18946.hp2 NA18949.hp2 NA18956.hp1 NA18959.hp1 NA18961.hp2 NA18963.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18995.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19054.hp2 NA19055.hp1 NA19064.hp2 NA19065.hp1 NA19074.hp2 NA19078.hp1 NA19085.hp2 NA20905.hp2	a0001 a0034 a0001 a0034	a0001c0001 a0001c0002 a0001c0019 others(3): Show a0001c0001 a0001c0002 a0001c0019 a0001c0035 a0001c0036 a0034c0037	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0020 a0001c0001t0023 a0001c0002t0003 a0001c0019t0002 a0001c0035t0002 a0001c0036t0003 a0034c0037t0002	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0023 others(63): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0339 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0015g0331 a0001c0001t0015g0332 a0001c0001t0020g0297 a0001c0001t0023g0338 a0001c0002t0003g0191 a0001c0019t0002g0314 a0001c0035t0002g0315 a0001c0036t0003g0087 a0034c0037t0002g0350	75	416	0.1803	-18	c.393 others(37): Show c.3931+2073_3931+2090delTTTTTTTTTTTTTTTTTT	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	36/36			chr9	TogoVar
ELP2_chr18_36124899_36185557	36126648	GTGCTCTG others(11): Show GTGCTCTGAGTGATGCTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02895.hp2 HG02897.hp2 others(1): Show HG02280.hp2 HG02895.hp2 HG02897.hp2 HG03471.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0015 a0006c0008t0029 a0006c0008t0015 a0006c0008t0029	a0006c0008t0015g0010 a0006c0008t0015g0048 a0006c0008t0015g0235 others(1): Show a0006c0008t0015g0010 a0006c0008t0015g0048 a0006c0008t0015g0235 a0006c0008t0029g0010	4	378	0.0106	-18	c.-32 others(29): Show c.-3285_-3268delTGCTCTGAGTGATGCTCA	ELP2	ENSG00000134759.14	transcript	ENST00000358232.11	protein_coding		3250		chr18	TogoVar
ELP3_chr8_28088139_28196153	28119572	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02723.hp1 others(4): Show HG02257.hp2 HG02280.hp1 HG02723.hp1 NA18940.hp2 NA18964.hp2 NA18972.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0168 others(4): Show a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0168 a0001c0001t0001g0217 a0001c0001t0002g0085 a0001c0001t0002g0092 a0001c0001t0003g0343	7	398	0.0176	-18	c.617 others(35): Show c.617+6439_617+6456delATATATATATATATATAT	ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ELP4_chr11_31504767_31795324	31599512	CACACACA others(11): Show CACACACACACAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG01071.hp1 others(80): Show HG00323.hp2 HG00738.hp1 HG01071.hp1 HG01081.hp2 HG01123.hp2 HG01175.hp1 HG01258.hp1 HG01433.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG02055.hp2 HG02080.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp2 HG02523.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02738.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03492.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18747.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18951.hp1 NA18959.hp1 NA18960.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp2 NA18977.hp2 NA18978.hp2 NA18984.hp1 NA18987.hp1 NA18988.hp2 NA18991.hp2 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19004.hp2 NA19030.hp1 NA19043.hp2 NA19063.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp2 NA19079.hp1 NA19083.hp2 NA19086.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0017 a0001c0001t0019 a0001c0001t0027 a0001c0001t0033 a0001c0001t0036 a0001c0001t0038 a0001c0001t0040 a0001c0001t0053 a0001c0001t0055 a0001c0001t0061 a0001c0001t0063 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0071 a0001c0001t0077 a0001c0002t0014 a0002c0003t0001 a0002c0003t0004 a0004c0004t0076	a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0019 others(80): Show a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0255 a0001c0001t0001g0263 a0001c0001t0002g0015 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0004g0017 a0001c0001t0004g0020 a0001c0001t0004g0026 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0071 a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0004g0091 a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0005g0021 a0001c0001t0005g0029 a0001c0001t0005g0061 a0001c0001t0005g0067 a0001c0001t0007g0014 a0001c0001t0007g0045 a0001c0001t0007g0054 a0001c0001t0007g0072 a0001c0001t0007g0081 a0001c0001t0007g0089 a0001c0001t0012g0023 a0001c0001t0012g0038 a0001c0001t0017g0007 a0001c0001t0019g0084 a0001c0001t0019g0095 a0001c0001t0027g0048 a0001c0001t0027g0050 a0001c0001t0033g0060 a0001c0001t0036g0090 a0001c0001t0038g0053 a0001c0001t0040g0059 a0001c0001t0053g0049 a0001c0001t0055g0083 a0001c0001t0061g0086 a0001c0001t0063g0047 a0001c0001t0065g0030 a0001c0001t0067g0161 a0001c0001t0068g0039 a0001c0001t0069g0080 a0001c0001t0071g0024 a0001c0001t0077g0008 a0001c0002t0014g0097 a0002c0003t0001g0093 a0002c0003t0001g0094 a0002c0003t0001g0096 a0002c0003t0004g0022 a0004c0004t0076g0063	83	270	0.3074	-18	c.514 others(35): Show c.514-4254_514-4237delCACACACACAAAAAAAAA	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31668675	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0218 a0001c0001t0008g0218	1	270	0.0037	-18	c.114 others(39): Show c.1143+18483_1143+18500delGTGTGTGTGTGTGTGTGT	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31668704	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02135.hp2 HG02523.hp2 others(2): Show HG02132.hp2 HG02135.hp2 HG02523.hp2 NA18941.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0004 a0001c0001t0001g0068 a0001c0001t0001g0073 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0004g0075 a0001c0001t0005g0067	5	270	0.0185	-18	c.114 others(39): Show c.1143+18484_1143+18501delTGTGTGTGTGTGTGTGTA	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9			chr11	TogoVar
ELP4_chr11_31504767_31795324	31678525	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03540.hp1 NA18970.hp1 HG03209.hp2 HG03540.hp1 NA18970.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0006 a0001c0001 a0001c0002 a0005c0006	a0001c0001t0055 a0001c0002t0045 a0005c0006t0032 a0001c0001t0055 a0001c0002t0045 a0005c0006t0032	a0001c0001t0055g0083 a0001c0002t0045g0245 a0005c0006t0032g0253 a0001c0001t0055g0083 a0001c0002t0045g0245 a0005c0006t0032g0253	3	270	0.0111	-18	c.114 others(39): Show c.1143+28306_1143+28323delGTGTGTGTGTGTGTGTAT	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31706445	ATATAGTG others(11): Show ATATAGTGAGACCCCATCT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02630.hp2 NA19043.hp2 others(1): Show HG01496.hp2 HG02630.hp2 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0053 a0001c0001t0063 a0001c0001t0027 a0001c0001t0053 a0001c0001t0063	a0001c0001t0027g0048 a0001c0001t0027g0050 a0001c0001t0053g0049 others(1): Show a0001c0001t0027g0048 a0001c0001t0027g0050 a0001c0001t0053g0049 a0001c0001t0063g0047	4	270	0.0148	-18	c.114 others(39): Show c.1143+56225_1143+56242delTATAGTGAGACCCCATCT	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9			chr11	TogoVar
ELP4_chr11_31504767_31795324	31794420	CCACACAC others(11): Show CCACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG02145.hp2 HG02698.hp2 others(9): Show HG01175.hp2 HG02145.hp2 HG02698.hp2 HG02809.hp2 HG02897.hp1 HG03239.hp1 HG03239.hp2 HG06807.hp1 HG06807.hp2 NA19086.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0046 a0001c0001t0051 a0001c0001t0061 a0001c0001t0069 a0001c0001t0073 a0004c0004t0076	a0001c0001t0003g0192 a0001c0001t0004g0078 a0001c0001t0005g0264 others(9): Show a0001c0001t0003g0192 a0001c0001t0004g0078 a0001c0001t0005g0264 a0001c0001t0008g0209 a0001c0001t0011g0189 a0001c0001t0011g0197 a0001c0001t0046g0172 a0001c0001t0051g0134 a0001c0001t0061g0086 a0001c0001t0069g0080 a0001c0001t0073g0237 a0004c0004t0076g0063	12	270	0.0444	-18	c.10 others(31): Show c.10897_*10914delCACACACACACACACACA	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding		4097		chr11	TogoVar
ELSPBP1_chr19_47989632_48030154	48023206	AAGGAGGG others(11): Show AAGGAGGGAAGGAAGGAGG	A A	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0032 a0004c0004t0001g0032	1	388	0.0026	-18	c.7+ others(31): Show c.7+873_*7+890delAGGAGGGAAGGAAGGAGG	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	6/6			chr19	TogoVar
EMB_chr5_50391192_50446288	50429968	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	346	0.0029	-18	c.113 others(35): Show c.113-1759_113-1742delGAGAGAGAGAGAGAGAGA	EMB	ENSG00000170571.12	transcript	ENST00000303221.10	protein_coding	1/8			chr5	TogoVar
EMC10_chr19_50471507_50495871	50471753	CATGTGTA others(11): Show CATGTGTATACGCATACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0169 a0001c0002t0169	a0001c0002t0169g0028 a0001c0002t0169g0028	1	352	0.0028	-18	c.-47 others(29): Show c.-4791_-4774delATGTGTATACGCATACAT	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		4753		chr19	TogoVar
EMC10_chr19_50471507_50495871	50492039	GGAGAGAG others(11): Show GGAGAGAGAGAGAGAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp1 others(137): Show HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18954.hp1 NA18959.hp2 NA18966.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18999.hp1 NA19002.hp2 NA19007.hp1 NA19010.hp1 NA19043.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0003c0011 a0005c0006	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(69): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0032 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0077 a0001c0001t0080 a0001c0001t0083 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0124 a0001c0001t0167 a0001c0001t0172 a0001c0002t0004 a0001c0002t0018 a0001c0002t0019 a0001c0002t0027 a0001c0002t0034 a0001c0002t0036 a0001c0002t0039 a0001c0002t0040 a0001c0002t0041 a0001c0002t0053 a0001c0002t0054 a0001c0002t0063 a0001c0002t0085 a0001c0002t0086 a0001c0002t0087 a0001c0002t0093 a0001c0002t0094 a0001c0002t0095 a0001c0002t0098 a0001c0002t0100 a0001c0002t0125 a0001c0002t0126 a0001c0002t0163 a0001c0002t0164 a0001c0002t0165 a0001c0002t0166 a0001c0002t0168 a0001c0003t0066 a0001c0007t0127 a0003c0011t0008 a0005c0006t0099	a0001c0001t0001g0064 a0001c0001t0006g0001 a0001c0001t0008g0001 others(85): Show a0001c0001t0001g0064 a0001c0001t0006g0001 a0001c0001t0008g0001 a0001c0001t0009g0001 a0001c0001t0009g0012 a0001c0001t0010g0001 a0001c0001t0010g0026 a0001c0001t0010g0055 a0001c0001t0013g0001 a0001c0001t0014g0001 a0001c0001t0017g0001 a0001c0001t0017g0012 a0001c0001t0019g0001 a0001c0001t0020g0001 a0001c0001t0020g0059 a0001c0001t0021g0001 a0001c0001t0022g0001 a0001c0001t0022g0066 a0001c0001t0023g0001 a0001c0001t0023g0026 a0001c0001t0024g0001 a0001c0001t0025g0001 a0001c0001t0026g0001 a0001c0001t0026g0057 a0001c0001t0032g0001 a0001c0001t0042g0001 a0001c0001t0042g0067 a0001c0001t0043g0001 a0001c0001t0043g0012 a0001c0001t0044g0001 a0001c0001t0044g0058 a0001c0001t0045g0001 a0001c0001t0046g0001 a0001c0001t0046g0056 a0001c0001t0077g0060 a0001c0001t0080g0001 a0001c0001t0083g0001 a0001c0001t0102g0001 a0001c0001t0103g0001 a0001c0001t0104g0001 a0001c0001t0106g0001 a0001c0001t0107g0001 a0001c0001t0108g0001 a0001c0001t0109g0001 a0001c0001t0110g0001 a0001c0001t0111g0001 a0001c0001t0112g0001 a0001c0001t0113g0001 a0001c0001t0114g0001 a0001c0001t0115g0001 a0001c0001t0124g0001 a0001c0001t0167g0001 a0001c0001t0172g0001 a0001c0002t0004g0006 a0001c0002t0018g0005 a0001c0002t0018g0020 a0001c0002t0019g0020 a0001c0002t0019g0052 a0001c0002t0027g0011 a0001c0002t0034g0005 a0001c0002t0036g0004 a0001c0002t0036g0034 a0001c0002t0039g0023 a0001c0002t0040g0004 a0001c0002t0041g0004 a0001c0002t0041g0044 a0001c0002t0053g0005 a0001c0002t0054g0005 a0001c0002t0063g0004 a0001c0002t0085g0045 a0001c0002t0086g0006 a0001c0002t0087g0042 a0001c0002t0093g0004 a0001c0002t0094g0005 a0001c0002t0095g0005 a0001c0002t0098g0006 a0001c0002t0100g0005 a0001c0002t0125g0021 a0001c0002t0126g0021 a0001c0002t0163g0005 a0001c0002t0164g0005 a0001c0002t0165g0005 a0001c0002t0166g0005 a0001c0002t0168g0005 a0001c0003t0066g0049 a0001c0007t0127g0001 a0003c0011t0008g0001 a0005c0006t0099g0005	140	352	0.3977	-18	c.97 others(29): Show c.9781_*9798delGAGAGAGAGAGAGAGAGA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		1169		chr19	TogoVar
EMC10_chr19_50471507_50495871	50493982	TAGGCAGG others(11): Show TAGGCAGGTGGATTGCCTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0001 a0001c0001t0109g0001	1	352	0.0028	-18	c.11 others(31): Show c.11724_*11741delAGGCAGGTGGATTGCCTG	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		3112		chr19	TogoVar
EMCN_chr4_100390341_100523022	100431747	CTGCTCTC others(11): Show CTGCTCTCTCTCTCTCACT	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	-18	c.416 others(35): Show c.416-8361_416-8344delAGTGAGAGAGAGAGAGCA	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	5/11			chr4	TogoVar
EMCN_chr4_100390341_100523022	100459168	GCTCTCTC others(11): Show GCTCTCTCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp2 HG00738.hp2 others(23): Show HG00597.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01261.hp1 HG01361.hp1 HG01515.hp1 HG01517.hp1 HG02027.hp2 HG02132.hp1 HG02148.hp1 HG02257.hp2 HG02630.hp2 HG03490.hp1 HG03654.hp1 HG03831.hp1 HG03942.hp2 NA18973.hp1 NA18979.hp2 NA19001.hp1 NA19011.hp2 NA19066.hp1 NA19083.hp1 NA19088.hp1 NA20300.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0006 a0001c0001 a0001c0004 a0002c0006	a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 others(3): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 a0001c0001t0027 a0001c0004t0004 a0002c0006t0004	a0001c0001t0002g0003 a0001c0001t0002g0127 a0001c0001t0002g0129 others(22): Show a0001c0001t0002g0003 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0184 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0245 a0001c0001t0012g0180 a0001c0001t0012g0238 a0001c0001t0013g0246 a0001c0001t0027g0247 a0001c0004t0004g0249 a0002c0006t0004g0048	26	262	0.0992	-18	c.376 others(35): Show c.376+6237_376+6254delAGAGAGAGAGAGAGAGAG	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	4/11			chr4	TogoVar
EMID1_chr22_29200896_29264597	29221066	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp1 others(32): Show HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00597.hp1 HG01515.hp2 HG02027.hp1 HG02055.hp1 HG02080.hp1 HG02280.hp2 HG02698.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG03540.hp1 HG04228.hp2 NA18939.hp2 NA18942.hp1 NA18943.hp2 NA18951.hp1 NA18963.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18990.hp2 NA18994.hp1 NA19009.hp2 NA19066.hp1 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0009c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0003c0003t0003 a0009c0006t0001	a0001c0001t0001g0162 a0001c0001t0001g0176 a0001c0001t0001g0262 others(31): Show a0001c0001t0001g0162 a0001c0001t0001g0176 a0001c0001t0001g0262 a0001c0001t0001g0314 a0001c0001t0001g0327 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0122 a0001c0001t0002g0167 a0001c0001t0003g0033 a0001c0001t0003g0328 a0001c0001t0008g0263 a0002c0002t0001g0173 a0002c0002t0001g0175 a0002c0002t0001g0178 a0002c0002t0001g0326 a0002c0002t0001g0331 a0002c0002t0002g0035 a0002c0002t0002g0123 a0002c0002t0002g0174 a0002c0002t0002g0177 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0207 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0330 a0002c0002t0003g0121 a0002c0002t0003g0179 a0002c0002t0003g0184 a0003c0003t0003g0004 a0003c0003t0003g0180 a0003c0003t0003g0181 a0009c0006t0001g0329	35	348	0.1006	-18	c.320 others(35): Show c.320-4026_320-4009delGTGTGTGTGTGTGTGTGT	EMID1	ENSG00000186998.16	transcript	ENST00000334018.11	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
EMILIN2_chr18_2842006_2921003	2858522	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18945.hp2 HG01109.hp1 NA18945.hp2	a0002 a0004 a0002 a0004	a0002c0005 a0004c0011 a0002c0005 a0004c0011	a0002c0005t0032 a0004c0011t0003 a0002c0005t0032 a0004c0011t0003	a0002c0005t0032g0231 a0004c0011t0003g0148 a0002c0005t0032g0231 a0004c0011t0003g0148	2	452	0.0044	-18	c.257 others(37): Show c.257+10622_257+10639delATATATATATATATATAT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2858583	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA20752.hp2 HG01361.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0294 a0001c0001t0005g0413 a0001c0001t0001g0294 a0001c0001t0005g0413	2	452	0.0044	-18	c.257 others(37): Show c.257+10654_257+10671delATATATATATATATATAT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EML1_chr14_99788413_99947060	99928197	GTGGTGGT others(11): Show GTGGTGGTGGTGATGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0031 a0002c0001t0002g0031	1	288	0.0035	-18	c.190 others(37): Show c.1909+7332_1909+7349delATGGTGATGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML4_chr2_42164353_42337548	42325596	TTATATTT others(11): Show TTATATTTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG01192.hp1 others(1): Show HG00323.hp2 HG00735.hp2 HG01192.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0181 others(1): Show a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0181 a0001c0001t0003g0182	4	358	0.0112	-18	c.224 others(33): Show c.2242+48_2242+65delTTATATATATATATATAT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42325602	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00544.hp1 others(133): Show HG00099.hp1 HG00099.hp2 HG00544.hp1 HG00609.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18950.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18961.hp2 NA18962.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18978.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp2 NA18991.hp1 NA19000.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19063.hp2 NA19065.hp1 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19085.hp2 NA19086.hp2 NA19089.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0009	a0001c0001 a0001c0005 a0002c0002 others(3): Show a0001c0001 a0001c0005 a0002c0002 a0004c0004 a0007c0011 a0009c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0005t0003 a0001c0005t0014 a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0004c0004t0003 a0007c0011t0003 a0009c0013t0003	a0001c0001t0002g0187 a0001c0001t0002g0216 a0001c0001t0002g0234 others(131): Show a0001c0001t0002g0187 a0001c0001t0002g0216 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0148 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0184 a0001c0001t0003g0188 a0001c0001t0003g0190 a0001c0001t0003g0194 a0001c0001t0003g0210 a0001c0001t0003g0355 a0001c0001t0005g0309 a0001c0001t0005g0311 a0001c0001t0005g0312 a0001c0001t0005g0313 a0001c0001t0005g0314 a0001c0001t0005g0315 a0001c0001t0005g0316 a0001c0001t0005g0317 a0001c0001t0005g0318 a0001c0001t0005g0319 a0001c0001t0005g0322 a0001c0001t0005g0323 a0001c0001t0005g0324 a0001c0001t0005g0327 a0001c0001t0005g0328 a0001c0001t0005g0329 a0001c0001t0005g0330 a0001c0001t0005g0331 a0001c0001t0005g0334 a0001c0001t0005g0335 a0001c0001t0006g0135 a0001c0001t0006g0193 a0001c0001t0006g0199 a0001c0001t0006g0202 a0001c0001t0006g0205 a0001c0001t0006g0208 a0001c0001t0006g0209 a0001c0001t0006g0222 a0001c0001t0006g0237 a0001c0001t0006g0263 a0001c0001t0006g0264 a0001c0001t0006g0299 a0001c0001t0006g0325 a0001c0001t0006g0350 a0001c0001t0007g0001 a0001c0001t0007g0006 a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0015 a0001c0001t0007g0016 a0001c0001t0010g0126 a0001c0001t0010g0137 a0001c0001t0010g0138 a0001c0001t0011g0149 a0001c0001t0011g0150 a0001c0001t0011g0185 a0001c0001t0015g0155 a0001c0001t0019g0125 a0001c0001t0020g0136 a0001c0001t0021g0336 a0001c0001t0022g0326 a0001c0005t0003g0337 a0001c0005t0014g0348 a0001c0005t0014g0349 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0023 a0002c0002t0006g0204 a0002c0002t0007g0021 a0002c0002t0007g0022 a0002c0002t0008g0009 a0002c0002t0008g0010 a0002c0002t0008g0011 a0002c0002t0008g0012 a0002c0002t0008g0014 a0002c0002t0008g0033 a0002c0002t0008g0085 a0004c0004t0003g0139 a0004c0004t0003g0142 a0004c0004t0003g0143 a0004c0004t0003g0144 a0004c0004t0003g0145 a0007c0011t0003g0213 a0009c0013t0003g0154	136	358	0.3799	-18	c.224 others(33): Show c.2242+68_2242+85delATATATATATATATATAT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42326528	ATTAAATT others(11): Show ATTAAATTTGGAAAGGCAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02895.hp2 HG01243.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0021 a0001c0001t0003 a0001c0001t0021	a0001c0001t0003g0194 a0001c0001t0021g0336 a0001c0001t0003g0194 a0001c0001t0021g0336	2	358	0.0056	-18	c.234 others(35): Show c.2341+279_2341+296delAAATTTGGAAAGGCATTT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML5_chr14_88607431_88797953	88662339	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02717.hp1 HG03453.hp1 others(1): Show HG02280.hp2 HG02717.hp1 HG03453.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0310 a0001c0003t0004g0311 a0001c0003t0004g0312 others(1): Show a0001c0003t0004g0310 a0001c0003t0004g0311 a0001c0003t0004g0312 a0001c0003t0004g0314	4	332	0.0121	-18	c.349 others(35): Show c.3499-527_3499-510delAAAAAAAAAAAAAAAAAA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding	24/43			chr14	TogoVar
EML6_chr2_54718662_54977025	54744905	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02809.hp1 HG02965.hp2 others(4): Show HG02451.hp1 HG02809.hp1 HG02965.hp2 HG03195.hp2 NA18969.hp2 NA19030.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0012 a0001c0030 a0001c0002 a0001c0012 a0001c0030	a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 others(2): Show a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0001c0012t0001 a0001c0030t0001	a0001c0002t0004g0067 a0001c0002t0004g0068 a0001c0002t0006g0055 others(4): Show a0001c0002t0004g0067 a0001c0002t0004g0068 a0001c0002t0006g0055 a0001c0002t0010g0056 a0001c0002t0010g0071 a0001c0012t0001g0027 a0001c0030t0001g0057	7	264	0.0265	-18	c.197 others(37): Show c.197+19688_197+19705delACACACACACACACACAC	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EMP1_chr12_13191726_13224941	13217028	GAAAGGGG others(11): Show GAAAGGGGTTATGATTATA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0170 a0001c0001t0029g0170	1	444	0.0023	-18	c.23 others(29): Show c.2340_*2357delAGGGGTTATGATTATAAA	EMP1	ENSG00000134531.10	transcript	ENST00000256951.10	protein_coding	5/5	2340	INFO_REALIGN_3_PRIME	chr12	TogoVar
EMP2_chr16_10523422_10585598	10562336	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	402	0.0025	-18	c.-60 others(37): Show c.-60-14677_-60-14660delGAGAGAGAGAGAGAGAGA	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	1/4			chr16	TogoVar
EMP2_chr16_10523422_10585598	10581967	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG03453.hp1 HG02257.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0021 a0001c0001t0007 a0001c0002t0021	a0001c0001t0007g0002 a0001c0002t0021g0371 a0001c0001t0007g0002 a0001c0002t0021g0371	2	402	0.0050	-18	c.-14 others(29): Show c.-1497_-1480delCACACACACACACACACA	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding		1370		chr16	TogoVar
EMP3_chr19_48320552_48335553	48334414	CTCTCTTT others(11): Show CTCTCTTTCTTTCTTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	376	0.0027	-18	c.39 others(29): Show c.3945_*3962delTCTCTTTCTTTCTTTCTT	EMP3	ENSG00000142227.11	transcript	ENST00000270221.11	protein_coding		3862		chr19	TogoVar

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