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
EBF3_chr10_129830233_129969274	129920273	G G	GAGTATCT others(42): Show GAGTATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG04204.hp2 NA19240.hp2 HG02615.hp2 HG04204.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0019 a0001c0001t0001 a0001c0001t0007 a0001c0001t0019	a0001c0001t0001g0162 a0001c0001t0007g0272 a0001c0001t0019g0111 a0001c0001t0001g0162 a0001c0001t0007g0272 a0001c0001t0019g0111	3	338	0.0089	49	c.554 others(68): Show c.554+36936_554+36984dupGGCCCTAGACCGCACAGCGGGGCGGG TTTGTGGCCCTCCTGGAGATACT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBF3_chr10_129830233_129969274	129920322	C C	CAGTATCT others(42): Show CAGTATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCAGTCTAGGGCG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03491.hp2 HG02523.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0034 a0001c0001t0004 a0001c0001t0034	a0001c0001t0004g0161 a0001c0001t0034g0178 a0001c0001t0004g0161 a0001c0001t0034g0178	2	338	0.0059	49	c.554 others(68): Show c.554+36935_554+36936insCGCCCTAGACTGCACAGCGGGGCGGG TTTGTGGCCCTCCTGGAGATACT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EDA_chrX_69611113_70044472	69835042	C C	CCCACTCT others(42): Show CCCACTCTCTTCTGATTTGTAGGGTTTCTGCCGAGAGATCAGCTGTTAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG01109.hp1 others(35): Show HG00140.hp1 HG00639.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG02004.hp2 HG02056.hp1 HG02148.hp1 HG02258.hp1 HG02615.hp1 HG02683.hp1 HG02738.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03017.hp1 HG03195.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03927.hp1 HG04184.hp2 NA18959.hp1 NA19240.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0005 a0001c0001 a0001c0004 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0004t0001 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 others(35): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0196 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0051 a0001c0001t0002g0154 a0001c0001t0002g0181 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0004g0179 a0001c0001t0004g0182 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0007g0035 a0001c0001t0009g0007 a0001c0001t0014g0027 a0001c0001t0016g0003 a0001c0001t0020g0163 a0001c0004t0001g0005 a0003c0005t0001g0018	38	226	0.1681	49	c.397 others(70): Show c.397-121938_397-121937insATCCACTCTCTTCTGATTTGTAGG GTTTCTGCCGAGAGATCAGCTGTTA	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDNRA_chr4_147476097_147549954	147546151	G G	GCCCTCCT others(42): Show GCCCTCCTTTCTCTTCTCAATTCGTTCTTCTCTACCTTCTTCTTTCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0011 a0001c0001t0027g0011	1	280	0.0036	49	c.35 others(60): Show c.3533_*3534insCCCTCCTTTCTCTTCTCAATTCGTTCTTCTCTAC CTTCTTCTTTCTCTT	EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding		1198		chr4	TogoVar
EEFSEC_chr3_128148481_128413646	128150870	A A	ATATATTC others(42): Show ATATATTCTATATATAATATAATATTCTATATTATATATATAATATATTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	272	0.0037	49	c.-26 others(60): Show c.-2638_-2637insTATATTCTATATATAATATAATATTCTATATTAT ATATATAATATATTC	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		2610		chr3	TogoVar
EFCAB13_chr17_47318955_47446312	47397937	A A	AGGCCAGC others(42): Show AGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0001 a0016c0022t0001	a0016c0022t0001g0346 a0016c0022t0001g0346	1	356	0.0028	49	c.194 others(68): Show c.1945+1967_1945+1968insTGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGC	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47397945	C C	CGCCCCGT others(42): Show CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(82): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00738.hp1 HG01109.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp2 HG01975.hp1 HG01993.hp2 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02135.hp2 HG02148.hp1 HG02559.hp2 HG02735.hp2 HG03130.hp1 HG03492.hp2 HG03688.hp1 HG03710.hp2 HG03834.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18952.hp1 NA18956.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18990.hp1 NA18993.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19076.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA20300.hp1 NA21309.hp1	a0003 a0004 a0006 others(4): Show a0003 a0004 a0006 a0007 a0009 a0013 a0015	a0003c0004 a0003c0008 a0003c0017 others(6): Show a0003c0004 a0003c0008 a0003c0017 a0004c0003 a0006c0007 a0007c0009 a0009c0012 a0013c0018 a0015c0023	a0003c0004t0002 a0003c0008t0003 a0003c0017t0002 others(8): Show a0003c0004t0002 a0003c0008t0003 a0003c0017t0002 a0004c0003t0001 a0006c0007t0001 a0006c0007t0010 a0007c0009t0001 a0007c0009t0002 a0009c0012t0002 a0013c0018t0001 a0015c0023t0006	a0003c0004t0002g0109 a0003c0004t0002g0214 a0003c0004t0002g0217 others(78): Show a0003c0004t0002g0109 a0003c0004t0002g0214 a0003c0004t0002g0217 a0003c0004t0002g0219 a0003c0004t0002g0220 a0003c0004t0002g0222 a0003c0004t0002g0224 a0003c0004t0002g0225 a0003c0004t0002g0226 a0003c0004t0002g0227 a0003c0004t0002g0229 a0003c0004t0002g0230 a0003c0004t0002g0231 a0003c0004t0002g0232 a0003c0004t0002g0235 a0003c0004t0002g0236 a0003c0004t0002g0237 a0003c0004t0002g0239 a0003c0004t0002g0241 a0003c0004t0002g0243 a0003c0004t0002g0244 a0003c0004t0002g0245 a0003c0004t0002g0247 a0003c0004t0002g0249 a0003c0004t0002g0250 a0003c0004t0002g0251 a0003c0004t0002g0253 a0003c0008t0003g0276 a0003c0017t0002g0223 a0004c0003t0001g0001 a0004c0003t0001g0003 a0004c0003t0001g0020 a0004c0003t0001g0021 a0004c0003t0001g0022 a0004c0003t0001g0023 a0004c0003t0001g0024 a0004c0003t0001g0025 a0004c0003t0001g0026 a0004c0003t0001g0027 a0004c0003t0001g0028 a0004c0003t0001g0029 a0004c0003t0001g0030 a0004c0003t0001g0031 a0004c0003t0001g0033 a0004c0003t0001g0034 a0004c0003t0001g0035 a0004c0003t0001g0036 a0004c0003t0001g0037 a0004c0003t0001g0038 a0004c0003t0001g0039 a0004c0003t0001g0040 a0004c0003t0001g0041 a0004c0003t0001g0042 a0004c0003t0001g0043 a0004c0003t0001g0044 a0004c0003t0001g0045 a0004c0003t0001g0046 a0004c0003t0001g0047 a0004c0003t0001g0048 a0004c0003t0001g0065 a0004c0003t0001g0066 a0006c0007t0001g0059 a0006c0007t0001g0060 a0006c0007t0001g0062 a0006c0007t0001g0063 a0006c0007t0001g0064 a0006c0007t0001g0339 a0006c0007t0001g0340 a0006c0007t0001g0341 a0006c0007t0010g0061 a0007c0009t0001g0221 a0007c0009t0002g0218 a0007c0009t0002g0234 a0007c0009t0002g0246 a0007c0009t0002g0248 a0007c0009t0002g0252 a0009c0012t0002g0004 a0009c0012t0002g0216 a0009c0012t0002g0242 a0013c0018t0001g0205 a0015c0023t0006g0261	85	356	0.2388	49	c.194 others(68): Show c.1945+2016_1945+2017insTGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGC	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47397946	G G	GCCCCGTC others(42): Show GCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02976.hp2 HG03486.hp1 others(1): Show HG02647.hp2 HG02976.hp2 HG03486.hp1 NA18906.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0049 a0008c0011t0001g0050 a0008c0011t0001g0054 others(1): Show a0008c0011t0001g0049 a0008c0011t0001g0050 a0008c0011t0001g0054 a0008c0011t0001g0273	4	356	0.0112	49	c.194 others(68): Show c.1945+2016_1945+2017insTTCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGC	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB2_chr1_244964682_245092837	244980218	C C	CAAAAAAA others(42): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0288 a0001c0001t0008g0288	1	290	0.0035	49	c.25+ others(64): Show c.25+9793_25+9794insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFNA5_chr5_107371894_107675937	107476056	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0140 a0001c0001t0054g0140	1	190	0.0053	49	c.126 others(68): Show c.126-48548_126-48547insAAAAAAAAATATATATATATATATAT ATATATATATATATATATATATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EHMT1_chr9_137614005_137841127	137721224	A A	ACCCCTCC others(42): Show ACCCCTCCCAGACTTCTCACACTCACCCCTCCCAGACTTCTCACACTCGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0147 a0001c0006t0001g0147	1	170	0.0059	49	c.642 others(66): Show c.642+4065_642+4066insACCCCTCCCAGACTTCTCACACTCGCCC CCTCCCAGACTTCTCACACTC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF3K_chr19_38614188_38641954	38637325	C C	CTTTTTTT others(42): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0220 a0001c0002t0001g0220	1	400	0.0025	49	c.40 others(58): Show c.405_*406insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding		372		chr19	TogoVar
EIF4G3_chr1_20801479_21181897	20816066	C C	CGCCTGGC others(42): Show CGCCTGGCCAGCCACCCCATCCGGGAGGGAGGTGGGGAGGTCAGCCCCCT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG04184.hp2 HG01516.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0272 a0001c0001t0003g0273	2	312	0.0064	49	c.451 others(68): Show c.4515+1325_4515+1326insAGGGGGCTGACCTCCCCACCTCCCTC CCGGATGGGGTGGCTGGCCAGGC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36			chr1	TogoVar
EIPR1_chr2_3183970_3382818	3247003	A A	AGGGAGAG others(42): Show AGGGAGAGAGCGAGGGAGGGAGAGAGCGAGGGAGGGAGAGAGCGAGGGAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03704.hp1 NA19043.hp1 HG00735.hp1 HG03704.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0224 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0224	3	250	0.0120	49	c.416 others(68): Show c.416+10295_416+10296insCTCCCTCGCTCTCTCCCTCCCTCGCT CTCTCCCTCCCTCGCTCTCTCCC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3361733	C C	CTCTGACC others(42): Show CTCTGACCCTGCCCAAGCCCTTGGACTCCCTCACACGGGCACCTCCACCA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03225.hp1 HG03130.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0002g0010 a0001c0005t0001g0104 a0001c0001t0002g0010 a0001c0005t0001g0104	2	250	0.0080	49	c.43- others(64): Show c.43-7149_43-7101dupTGGTGGAGGTGCCCGTGTGAGGGAGTCCAA GGGCTTGGGCAGGGTCAGA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	1/8			chr2	TogoVar
ELAC2_chr17_12986612_13023027	13022550	C C	CTTCCTTC others(42): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0071 a0002c0002t0005g0071	1	400	0.0025	49	c.-46 others(60): Show c.-4604_-4603insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4524		chr17	TogoVar
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(42): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	352	0.0028	49	c.230 others(66): Show c.230-3981_230-3980insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELF1_chr13_40926924_41024316	40955543	T T	TAGGTGGG others(42): Show TAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0006 a0001c0001t0015g0006	1	362	0.0028	49	c.253 others(66): Show c.253+3292_253+3293insCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCT	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8			chr13	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCCAGTCA others(42): Show TCCAGTCACACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	342	0.0029	49	c.238 others(68): Show c.238+10602_238+10603insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGACTGG	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCCAGTCT others(42): Show TCCAGTCTCACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0283 a0001c0001t0007g0283	1	342	0.0029	49	c.238 others(68): Show c.238+10602_238+10603insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGAGACTGG	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGCGGGG others(42): Show GGGCGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	312	0.0032	49	c.-47 others(60): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACACACCCCCGCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGCGG others(42): Show GGGGGCGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	312	0.0032	49	c.-47 others(60): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACACCCCCGCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGCGG others(42): Show GGGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0214 a0001c0001t0004g0214	1	312	0.0032	49	c.-47 others(60): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACACACCCGCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGGC others(42): Show GGGGGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0022 a0001c0002t0006g0022	1	312	0.0032	49	c.-47 others(60): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACACCCGCCCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411195	C C	CGGTGTGT others(42): Show CGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	312	0.0032	49	c.-47 others(60): Show c.-4774_-4773insACACACACACACACACACACACACACACACACAC ACACACACACACACC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4581		chr20	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0311 a0001c0001t0060g0311	1	338	0.0030	49	c.90- others(66): Show c.90-12276_90-12275insATATATATATATATATATATATATATAT ATATATATATTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELP1_chr9_108862517_108939124	108900809	A A	ACACACAC others(42): Show ACACACACATACACGCCACACACACATACACGCCACACACACATACACGC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG04228.hp1 NA20805.hp2 HG02698.hp2 HG04228.hp1 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0034 a0002c0003 a0002c0034	a0002c0003t0001 a0002c0034t0001 a0002c0003t0001 a0002c0034t0001	a0002c0003t0001g0029 a0002c0003t0001g0043 a0002c0034t0001g0104 a0002c0003t0001g0029 a0002c0003t0001g0043 a0002c0034t0001g0104	3	416	0.0072	49	c.201 others(66): Show c.2015-483_2015-435dupGCGTGTATGTGTGTGTGGCGTGTATGTG TGTGTGGCGTGTATGTGTGTG	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36			chr9	TogoVar
ELP1_chr9_108862517_108939124	108900826	A A	ACACACAC others(42): Show ACACACACATACACGCCACACACACATACACGCCACACACACATACACGC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0013 a0002c0003t0013	a0002c0003t0013g0118 a0002c0003t0013g0118	1	416	0.0024	49	c.201 others(66): Show c.2015-500_2015-452dupGCGTGTATGTGTGTGTGGCGTGTATGTG TGTGTGGCGTGTATGTGTGTG	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36			chr9	TogoVar
EMILIN2_chr18_2842006_2921003	2867980	C C	CTGACCCC others(42): Show CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGAGGGT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0004 a0002c0009t0004	a0002c0009t0004g0223 a0002c0009t0004g0223	1	452	0.0022	49	c.258 others(68): Show c.258-16955_258-16954insCGGCTGGCTGGGCGGAGGGTTGACCC CCCCACCTCCCTCCCGGACGGGG	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EML5_chr14_88607431_88797953	88608064	A A	AGAGTCAT others(42): Show AGAGTCATCCCCATGCAGACCATCGTCTCACTTGATGCTGCTACCGCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0026 a0002c0002t0003g0026	1	332	0.0030	49	c.77 others(60): Show c.7753_*7754insGCAGCGGTAGCAGCATCAAGTGAGACGATGGTCT GCATGGGGATGACTC	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		4366		chr14	TogoVar
ENTR1_chr9_136396922_136415614	136403374	G G	GGAGAAAG others(42): Show GGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0007 a0007	a0007c0029 a0007c0029	a0007c0029t0001 a0007c0029t0001	a0007c0029t0001g0200 a0007c0029t0001g0200	1	412	0.0024	49	c.120 others(66): Show c.1209-488_1209-487insTCCCCCGGCAAACCCCACCCCTTGCTCC CTGGGACCCTGTCCCTTTCTC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
ENTR1_chr9_136396922_136415614	136403416	C C	CGGGGGGA others(42): Show CGGGGGGAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0219 a0002c0003t0002g0219	1	412	0.0024	49	c.120 others(66): Show c.1209-530_1209-529insCGGCAAACCCCACCCCTTGCTCCCAGGA ACCCTGTCCCTTTCTCCCCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
EPB41_chr1_28909569_29125041	28935468	C C	CACACACA others(42): Show CACACACACACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA18950.hp1 HG02004.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0247 a0001c0003t0002g0217 a0001c0001t0002g0247 a0001c0003t0002g0217	2	312	0.0064	49	c.-8+ others(66): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACACACACACACACACA	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20			chr1	TogoVar
EPHA5_chr4_65314567_65675489	65576054	G G	GAAAGAAA others(42): Show GAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0196 a0001c0002t0002g0196	1	234	0.0043	49	c.910 others(68): Show c.910+25586_910+25587insTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTCTTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
ERBB4_chr2_211370717_212543802	212373950	T T	TATCCATA others(42): Show TATCCATATATATCCATAAATATATCCATATATATATCCATATATATCCA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02922.hp2 NA18522.hp1 others(2): Show HG02145.hp2 HG02922.hp2 NA18522.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0027 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029	a0001c0001t0001g0045 a0001c0001t0003g0050 a0001c0001t0027g0055 others(2): Show a0001c0001t0001g0045 a0001c0001t0003g0050 a0001c0001t0027g0055 a0001c0001t0028g0053 a0001c0001t0029g0054	5	56	0.0893	49	c.82+ others(68): Show c.82+164498_82+164499insTGGATATATATGGATATATATATGGA TATATTTATGGATATATATGGAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERC2_chr3_55503311_56473467	55583478	C C	CCCTCCTT others(42): Show CCCTCCTTCCTTCTCTCCCCTCCCCTCCCTCCCTCTCTCCTTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03225.hp1 HG01109.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0057 a0001c0001t0002g0058	2	74	0.0270	49	c.40 others(68): Show c.40-72203_*40-72202insAGGGAGGGAAGGAGAGAGGGAGGGAG GGGAGGGGAGAGAAGGAAGGAGG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55799450	C C	CATATATA others(42): Show CATATATATATATATATATATGCCTTATATATATATGCATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp2 HG03195.hp1 others(2): Show HG02630.hp2 HG02809.hp2 HG03195.hp1 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0002g0064 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0002g0064 a0001c0002t0001g0014 a0001c0002t0001g0017	5	74	0.0676	49	c.256 others(70): Show c.2565-64533_2565-64532insATATATATATATGCATATATATAT AAGGCATATATATATATATATATAT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(42): Show AGGGGGGGAGGGGGGGGAGGGGGGGGGGAGAGAGGGGAGGGGGGGGGGAG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	334	0.0030	49	c.156 others(66): Show c.156-1325_156-1324insGGAGGGGGGGGGGAGAGAGGGGAGGGGG GGGGGAGGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908336	A A	AGGGGGGG others(42): Show AGGGGGGGGAGGGGGGGGGGAGAGAGGGGAGGGGGGGGAGGGGGGGGGAG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	334	0.0030	49	c.156 others(66): Show c.156-1325_156-1324insGGAGGGGGGGGGGAGAGAGGGGAGGGGG GGGAGGGGGGGGGAGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908336	A A	AGGGGGGG others(42): Show AGGGGGGGGGAGGGGGGGGGAGAGAGGGGAGGGGGGGGAGGGGGGGGGAG	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp2 NA18953.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0074 a0001c0001t0004g0175 a0001c0001t0001g0074 a0001c0001t0004g0175	2	334	0.0060	49	c.156 others(66): Show c.156-1325_156-1324insGGGAGGGGGGGGGAGAGAGGGGAGGGGG GGGAGGGGGGGGGAGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908342	G G	GGGGAGGG others(42): Show GGGGAGGGGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	334	0.0030	49	c.156 others(66): Show c.156-1325_156-1324insGGGAGGGGGGGGGAGAGAGGGGAGGGGG GGAGGGGGGGGGAGGGGGGGA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9			chr5	TogoVar
ERI3_chr1_44216070_44360257	44342858	T T	TATATATA others(42): Show TATATATATATAAATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	340	0.0029	49	c.212 others(66): Show c.212-3537_212-3536insTATATATATATATATATATATATATATA TATATATATTTATATATATAT	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44342858	T T	TATATATA others(42): Show TATATATATATATAAATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	340	0.0029	49	c.212 others(66): Show c.212-3537_212-3536insTATATATATATATATATATATATATATA TATATATTTATATATATATAT	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44342858	T T	TATATATA others(42): Show TATATATATATATATAAATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	340	0.0029	49	c.212 others(66): Show c.212-3537_212-3536insTATATATATATATATATATATATATATA TATATTTATATATATATATAT	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERICH1_chr8_659200_736224	659618	G G	GGTGACCA others(42): Show GGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGGAGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0288	1	378	0.0027	49	c.49 others(60): Show c.4984_*4985insACCCCCTCCCCCAGGATGGTCAGTGCACACCGGA GATCTCGATGGTCAC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4581		chr8	TogoVar
ERICH1_chr8_659200_736224	688310	C C	CCCGGCCC others(42): Show CCCGGCCCCTCCCCCGCCCCGCCCCGGCCCCTCCGCCGCCCCGCCCCGCT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	378	0.0027	49	c.304 others(66): Show c.304+4167_304+4168insAGCGGGGCGGGGCGGCGGAGGGGCCGGG GCGGGGCGGGGGAGGGGCCGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	695692	G G	GCTCGCTC others(42): Show GCTCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03130.hp1 HG02165.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0099 a0001c0001t0001g0025 a0001c0001t0001g0099	2	378	0.0053	49	c.170 others(66): Show c.170-3081_170-3080insTGCAGGCTGATGGGGAGGAAGGAGAGGA GTGGAGGGTGAGAGGAGCGAG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	695765	C C	CCACTCCT others(42): Show CCACTCCTCTCCTTCCTCCCCATCAGCCTGCACTCGCTCCTCTCACCCTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	378	0.0027	49	c.170 others(66): Show c.170-3154_170-3153insAAGGGTGAGAGGAGCGAGTGCAGGCTGA TGGGGAGGAAGGAGAGGAGTG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	695765	C C	CCACTCCT others(42): Show CCACTCCTCTCCTTCCTCCCCATCAGCCTGCGCTCGCTCCTCTCACCCTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02451.hp1 others(4): Show HG01069.hp2 HG01071.hp2 HG02451.hp1 HG02970.hp2 HG03139.hp1 HG03225.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0209 a0001c0001t0001g0230 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0209 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233	7	378	0.0185	49	c.170 others(66): Show c.170-3154_170-3153insAAGGGTGAGAGGAGCGAGCGCAGGCTGA TGGGGAGGAAGGAGAGGAGTG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	696699	T T	TCTCCACT others(42): Show TCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCGCTCGCTCCTCTCACC	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19030.hp1 NA19043.hp1 HG02630.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0002g0253 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0002g0253	3	378	0.0079	49	c.170 others(66): Show c.170-4136_170-4088dupGGTGAGAGGAGCGAGCGCAGGCTGATGG GGAGGAAGGAGAGGAGTGGAG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar

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