Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EEF1A2_chr20_63483014_63504083	63484092	GGTCCCAC others(22): Show GGTCCCACCCTTGCAGGGCTCCAGGGCACT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	1	374	0.0027	-29	c.41 others(40): Show c.4177_*4205delAGTGCCCTGGAGCCCTGCAAGGGTGGGAC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		3921		chr20	TogoVar
EFCAB2_chr1_244964682_245092837	245045744	AGTCTGAC others(22): Show AGTCTGACTGGTTGTGGACAGCAGCCATCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00423.hp2 others(82): Show HG00140.hp1 HG00280.hp1 HG00423.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01071.hp2 HG01106.hp2 HG01256.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01978.hp2 HG01993.hp1 HG02027.hp1 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02148.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02615.hp1 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG03017.hp1 HG03041.hp1 HG03195.hp2 HG03209.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03669.hp2 HG03704.hp2 HG04115.hp1 HG06807.hp1 NA18522.hp2 NA18941.hp2 NA18944.hp1 NA18946.hp2 NA18949.hp2 NA18952.hp2 NA18960.hp2 NA18962.hp1 NA18969.hp2 NA18971.hp2 NA18983.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19030.hp2 NA19056.hp2 NA19062.hp1 NA19065.hp1 NA19070.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19086.hp2 NA19091.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0123 a0001c0001t0001g0163 a0001c0001t0001g0277 others(82): Show a0001c0001t0001g0123 a0001c0001t0001g0163 a0001c0001t0001g0277 a0001c0001t0008g0288 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0188 a0001c0002t0002g0195 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0232 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0289 a0001c0002t0004g0073	85	290	0.2931	-29	c.111 others(48): Show c.111-13619_111-13591delGCCATCGGTCTGACTGGTTGTGGACA GCA	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB3_chr17_62375553_62421480	62421107	CTCCAGCC others(22): Show CTCCAGCCTGCGTGACAGAGTGATGCCCTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0249 a0002c0002t0001g0249	1	368	0.0027	-29	c.47 others(40): Show c.4779_*4807delTCCAGCCTGCGTGACAGAGTGATGCCCTA	EFCAB3	ENSG00000172421.10	transcript	ENST00000305286.8	protein_coding		4628		chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30036042	GTATATAT others(22): Show GTATATATTTTATATATAACCATATATTTA	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01993.hp2 HG02004.hp1 others(3): Show HG01978.hp1 HG01993.hp2 HG02004.hp1 NA18964.hp1 NA18993.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 others(3): Show a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0245	6	248	0.0242	-29	c.120 others(48): Show c.1200+1689_1200+1717delTATATTTTATATATAACCATATATTT ATA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB8_chr20_32853923_32966845	32939127	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0047 a0047	a0047c0055 a0047c0055	a0047c0055t0001 a0047c0055t0001	a0047c0055t0001g0278 a0047c0055t0001g0278	1	284	0.0035	-29	c.279 others(48): Show c.2791-4506_2791-4478delTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFNA5_chr5_107371894_107675937	107591890	ATTATATA others(22): Show ATTATATATAATATATAATATAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02922.hp2 HG03516.hp1 HG02300.hp1 HG02922.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0028 a0001c0001t0001 a0001c0001t0004 a0001c0001t0028	a0001c0001t0001g0005 a0001c0001t0004g0004 a0001c0001t0028g0087 a0001c0001t0001g0005 a0001c0001t0004g0004 a0001c0001t0028g0087	3	190	0.0158	-29	c.125 others(48): Show c.125+78570_125+78598delATATTTTTTATATTATATATTATATA TAA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107591906	AATATAAA others(22): Show AATATAAAAAATATATATATAATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02602.hp1 NA18956.hp2 others(2): Show HG00323.hp1 HG02602.hp1 NA18956.hp2 NA19056.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0068 others(2): Show a0001c0001t0004 a0001c0001t0014 a0001c0001t0068 a0001c0001t0073 a0001c0001t0079	a0001c0001t0004g0052 a0001c0001t0014g0016 a0001c0001t0068g0188 others(2): Show a0001c0001t0004g0052 a0001c0001t0014g0016 a0001c0001t0068g0188 a0001c0001t0073g0085 a0001c0001t0079g0187	5	190	0.0263	-29	c.125 others(48): Show c.125+78554_125+78582delATTATATATTATATATATATTTTTTA TAT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EGFR_chr7_55014017_55216628	55072089	GGTTAGGC others(22): Show GGTTAGGCCTTGGAATCCAGCTCTCATTTC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp1 HG00642.hp2 others(53): Show HG00140.hp1 HG00621.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01109.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01978.hp2 HG02055.hp1 HG02300.hp2 HG02486.hp1 HG02572.hp1 HG02630.hp2 HG02735.hp1 HG02886.hp1 HG02895.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp2 HG06807.hp2 NA18945.hp1 NA18946.hp1 NA18965.hp1 NA18971.hp1 NA19056.hp2 NA20129.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(21): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0031 a0001c0039 a0001c0041 a0001c0042 a0001c0044 a0002c0002 a0002c0006 a0002c0009 a0002c0018 a0002c0027	a0001c0001t0001 a0001c0001t0003 a0001c0001t0027 others(44): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0027 a0001c0001t0028 a0001c0001t0066 a0001c0003t0001 a0001c0003t0002 a0001c0003t0009 a0001c0003t0015 a0001c0003t0019 a0001c0003t0026 a0001c0003t0027 a0001c0003t0064 a0001c0004t0001 a0001c0004t0006 a0001c0004t0016 a0001c0004t0045 a0001c0005t0003 a0001c0005t0004 a0001c0005t0008 a0001c0007t0005 a0001c0007t0006 a0001c0011t0007 a0001c0011t0014 a0001c0012t0028 a0001c0012t0057 a0001c0013t0053 a0001c0014t0003 a0001c0014t0008 a0001c0019t0006 a0001c0020t0001 a0001c0021t0020 a0001c0022t0054 a0001c0023t0001 a0001c0031t0012 a0001c0039t0006 a0001c0041t0005 a0001c0042t0004 a0001c0044t0004 a0002c0002t0004 a0002c0002t0033 a0002c0002t0059 a0002c0006t0005 a0002c0009t0002 a0002c0009t0007 a0002c0018t0007 a0002c0027t0004	a0001c0001t0001g0104 a0001c0001t0003g0077 a0001c0001t0027g0176 others(53): Show a0001c0001t0001g0104 a0001c0001t0003g0077 a0001c0001t0027g0176 a0001c0001t0028g0138 a0001c0001t0066g0146 a0001c0003t0001g0100 a0001c0003t0002g0154 a0001c0003t0009g0145 a0001c0003t0015g0229 a0001c0003t0015g0230 a0001c0003t0015g0231 a0001c0003t0019g0136 a0001c0003t0019g0140 a0001c0003t0026g0172 a0001c0003t0027g0177 a0001c0003t0064g0144 a0001c0004t0001g0166 a0001c0004t0006g0018 a0001c0004t0006g0105 a0001c0004t0016g0076 a0001c0004t0045g0160 a0001c0005t0003g0186 a0001c0005t0004g0112 a0001c0005t0008g0163 a0001c0007t0005g0042 a0001c0007t0006g0082 a0001c0011t0007g0106 a0001c0011t0007g0162 a0001c0011t0014g0149 a0001c0011t0014g0171 a0001c0012t0028g0161 a0001c0012t0057g0179 a0001c0013t0053g0135 a0001c0014t0003g0095 a0001c0014t0008g0175 a0001c0019t0006g0115 a0001c0020t0001g0158 a0001c0021t0020g0139 a0001c0022t0054g0212 a0001c0023t0001g0075 a0001c0031t0012g0238 a0001c0039t0006g0005 a0001c0041t0005g0041 a0001c0042t0004g0150 a0001c0044t0004g0143 a0002c0002t0004g0137 a0002c0002t0033g0159 a0002c0002t0059g0072 a0002c0006t0005g0155 a0002c0006t0005g0156 a0002c0006t0005g0157 a0002c0009t0002g0188 a0002c0009t0007g0109 a0002c0018t0007g0110 a0002c0018t0007g0134 a0002c0027t0004g0148	56	250	0.2240	-29	c.88+ others(46): Show c.88+52727_88+52755delTAGGCCTTGGAATCCAGCTCTCATTTCG T	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EHBP1_chr2_62700713_63051487	62939645	TATCTGAG others(22): Show TATCTGAGAGAGTACCAGGGAAATGGAGCA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18998.hp2 HG03239.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0140 a0001c0001t0001g0130 a0001c0001t0001g0140	2	198	0.0101	-29	c.118 others(48): Show c.1186-2990_1186-2962delGAGCAATCTGAGAGAGTACCAGGGAA ATG	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIF2S3_chrX_24049956_24083810	24056181	AAGTTAAA others(22): Show AAGTTAAAAAGTAAGACTAGTTTTTAACCT	A A	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18999.hp1 NA19085.hp1 NA18939.hp1 NA18999.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0124 a0001c0001t0009g0125 a0001c0001t0009g0126 a0001c0001t0009g0124 a0001c0001t0009g0125 a0001c0001t0009g0126	3	294	0.0102	-29	c.133 others(44): Show c.133+521_133+549delAGTTTTTAACCTAGTTAAAAAGTAAGACT	EIF2S3	ENSG00000130741.11	transcript	ENST00000253039.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
EIF3H_chr8_116637130_116760823	116752731	AGAAGAGA others(22): Show AGAAGAGAAAGAAAGAAAGAAAGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	336	0.0030	-29	c.132 others(46): Show c.132+2906_132+2934delCCTCCCTCTTTCTTTCTTTCTTTCTCTT C	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	1/7			chr8	TogoVar
EIF4H_chr7_74169356_74202096	74186788	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03239.hp1 HG03471.hp1 others(1): Show HG01074.hp2 HG03239.hp1 HG03471.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0124 a0001c0001t0001g0142 others(1): Show a0001c0001t0001g0072 a0001c0001t0001g0124 a0001c0001t0001g0142 a0001c0001t0001g0143	4	374	0.0107	-29	c.60- others(42): Show c.60-799_60-771delTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIPR1_chr2_3183970_3382818	3187738	ACCCCTCC others(22): Show ACCCCTCCCCACGGCCTCCCCACCAGCGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0250 a0001c0001t0007g0250	1	250	0.0040	-29	c.15 others(40): Show c.1567_*1595delCACGCTGGTGGGGAGGCCGTGGGGAGGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding		1231		chr2	TogoVar
EIPR1_chr2_3183970_3382818	3337033	AAAGAAAA others(22): Show AAAGAAAAGAGAAGGGAAAAGGGTAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00544.hp1 others(43): Show HG00140.hp1 HG00280.hp1 HG00544.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00738.hp2 HG01069.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01978.hp2 HG01981.hp1 HG02615.hp1 HG02717.hp1 HG02723.hp2 HG02886.hp2 HG03209.hp2 HG03225.hp2 HG03516.hp1 HG03834.hp2 HG03942.hp2 NA18747.hp2 NA18944.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18957.hp1 NA18963.hp2 NA18969.hp1 NA18970.hp1 NA18995.hp2 NA18999.hp2 NA19004.hp1 NA19005.hp1 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19064.hp2 NA19079.hp2 NA19085.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0003t0001	a0001c0001t0001g0017 a0001c0001t0001g0097 a0001c0001t0001g0098 others(43): Show a0001c0001t0001g0017 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0194 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0227 a0001c0001t0002g0115 a0001c0001t0002g0192 a0001c0001t0002g0208 a0001c0001t0003g0015 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0009g0248 a0001c0003t0001g0095 a0001c0003t0001g0193	46	250	0.1840	-29	c.259 others(44): Show c.259+955_259+983delCTTTTTACCCTTTTCCCTTCTCTTTTCTT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELAC2_chr17_12986612_13023027	13022617	TGTCTCTC others(22): Show TGTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0081 a0002c0002t0021g0081	1	400	0.0025	-29	c.-46 others(40): Show c.-4699_-4671delGAGAGAGAGAGAGAGAGAGAGAGAGAGAC	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4591		chr17	TogoVar
ELAVL2_chr9_23685104_23831240	23779979	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02165.hp1 HG02451.hp1 others(9): Show HG00673.hp1 HG02165.hp1 HG02451.hp1 HG02683.hp2 HG03831.hp2 NA18939.hp1 NA18957.hp2 NA18994.hp2 NA19072.hp2 NA19078.hp1 NA19084.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0020	a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0068 others(9): Show a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0149 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0305 a0001c0001t0003g0066 a0001c0001t0003g0304 a0001c0001t0006g0260 a0001c0001t0020g0063	12	352	0.0341	-29	c.-15 others(48): Show c.-15-17759_-15-17731delTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6			chr9	TogoVar
ELMO2_chr20_46361050_46411615	46388374	AGATTTCT others(22): Show AGATTTCTGACTCCCTCTTTGGCAGGTTAG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0216 a0001c0001t0004g0216	1	312	0.0032	-29	c.425 others(44): Show c.425+636_425+664delCTAACCTGCCAAAGAGGGAGTCAGAAATC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding	7/21			chr20	TogoVar
ELOF1_chr19_11548046_11564230	11550949	ACACACAC others(22): Show ACACACACACACACACACACACACACGACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02145.hp2 others(15): Show HG01884.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02886.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp2 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0013 a0001c0001t0016 others(1): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0016 a0001c0001t0046	a0001c0001t0005g0006 a0001c0001t0005g0046 a0001c0001t0013g0014 others(5): Show a0001c0001t0005g0006 a0001c0001t0005g0046 a0001c0001t0013g0014 a0001c0001t0013g0108 a0001c0001t0016g0032 a0001c0001t0016g0116 a0001c0001t0016g0117 a0001c0001t0046g0121	18	412	0.0437	-29	c.27 others(40): Show c.2768_*2796delGGTCGTGTGTGTGTGTGTGTGTGTGTGTG	ELOF1	ENSG00000130165.11	transcript	ENST00000252445.8	protein_coding		2096		chr19	TogoVar
ELOVL3_chr10_102221299_102234589	102226877	ATACAGAA others(22): Show ATACAGAAGTCAAAGAGAGCGTGTAGTGAG	A A	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	436	0.0023	-29	c.101 others(44): Show c.101+229_101+257delTACAGAAGTCAAAGAGAGCGTGTAGTGAG	ELOVL3	ENSG00000119915.5	transcript	ENST00000370005.4	protein_coding	1/3			chr10	TogoVar
ELOVL6_chr4_110040846_110203615	110084135	ATGATATA others(22): Show ATGATATATATGATATATATAACATATATG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02145.hp1 HG02451.hp1 others(8): Show HG00639.hp2 HG02145.hp1 HG02451.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG03098.hp1 HG03139.hp2 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 others(3): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0036 a0001c0001t0037 a0001c0001t0076	a0001c0001t0002g0159 a0001c0001t0007g0078 a0001c0001t0007g0079 others(8): Show a0001c0001t0002g0159 a0001c0001t0007g0078 a0001c0001t0007g0079 a0001c0001t0007g0158 a0001c0001t0007g0160 a0001c0001t0007g0250 a0001c0001t0007g0291 a0001c0001t0009g0157 a0001c0001t0036g0001 a0001c0001t0037g0002 a0001c0001t0076g0080	11	338	0.0325	-29	c.221 others(48): Show c.221+21333_221+21361delCATATATGTTATATATATCATATATA TCA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELSPBP1_chr19_47989632_48030154	48016522	TTCTTTCT others(22): Show TTCTTTCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0372 a0006c0013t0001g0372	1	388	0.0026	-29	c.355 others(44): Show c.355+484_355+512delTCTTTCTTCCTTCCTTCCTTCCTTCCTTC	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6			chr19	TogoVar
EML1_chr14_99788413_99947060	99927793	TTGGTGGT others(22): Show TTGGTGGTGGGGGGGGTGGGGGGGTGGTGG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02083.hp2 HG00609.hp2 HG02083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0027 a0001c0003t0004g0258 a0001c0003t0004g0027 a0001c0003t0004g0258	2	288	0.0069	-29	c.190 others(48): Show c.1909+6926_1909+6954delGGGGGGTGGGGGGGTGGTGGTGGTGG TGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML4_chr2_42164353_42337548	42244072	TTGTTTTT others(22): Show TTGTTTTTTGTTTTTTGTTTTTGTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp2 others(110): Show HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01952.hp2 HG01981.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02559.hp1 HG02602.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03209.hp1 HG03471.hp2 HG03540.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18978.hp2 NA18982.hp2 NA18987.hp1 NA18990.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19089.hp2 NA19091.hp2 NA20805.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0013 a0002c0002t0016 a0005c0006t0001	a0001c0001t0001g0059 a0001c0001t0002g0240 a0001c0001t0002g0241 others(110): Show a0001c0001t0001g0059 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0288 a0001c0001t0002g0300 a0001c0001t0008g0058 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0117 a0002c0002t0001g0354 a0002c0002t0002g0003 a0002c0002t0002g0344 a0002c0002t0002g0345 a0002c0002t0006g0204 a0002c0002t0007g0031 a0002c0002t0007g0056 a0002c0002t0008g0009 a0002c0002t0008g0010 a0002c0002t0008g0011 a0002c0002t0008g0012 a0002c0002t0008g0013 a0002c0002t0008g0014 a0002c0002t0008g0033 a0002c0002t0009g0024 a0002c0002t0009g0070 a0002c0002t0009g0071 a0002c0002t0009g0072 a0002c0002t0009g0073 a0002c0002t0013g0066 a0002c0002t0013g0100 a0002c0002t0016g0074 a0005c0006t0001g0048 a0005c0006t0001g0086 a0005c0006t0001g0115 a0005c0006t0001g0116	113	358	0.3156	-29	c.26- others(44): Show c.26-1431_26-1403delGTTTTTTGTTTTTTGTTTTTGTTTTTTGT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML5_chr14_88607431_88797953	88796245	ATTATATA others(22): Show ATTATATATATATTATATGTTATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	332	0.0030	-29	c.-37 others(40): Show c.-3771_-3743delAATATATATAACATATAATATATATATAA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3293		chr14	TogoVar
EML6_chr2_54718662_54977025	54973818	TACCTGAT others(22): Show TACCTGATGCCGTTCATAAATAACAGGAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0257 a0001c0003t0002g0257	1	264	0.0038	-29	c.37 others(40): Show c.3724_*3752delACCTGATGCCGTTCATAAATAACAGGAAC	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding		1794		chr2	TogoVar
ENOSF1_chr18_665318_717630	666895	GGTGATGG others(22): Show GGTGATGGAGATGGTGATGGTGATGGAGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 NA19030.hp2 HG01496.hp1 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0177 a0002c0002t0005g0186 a0002c0002t0005g0177 a0002c0002t0005g0186	2	418	0.0048	-29	c.73 others(40): Show c.7381_*7409delATCTCCATCACCATCACCATCTCCATCAC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3422		chr18	TogoVar
ENOX1_chr13_43208130_43791972	43247842	TATATATA others(22): Show TATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	188	0.0053	-29	c.161 others(50): Show c.1612-11133_1612-11105delTATATATATATATATATATATATA TATAT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43247844	TATATATA others(22): Show TATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	188	0.0053	-29	c.161 others(50): Show c.1612-11135_1612-11107delTATATATATATATATATATATATA TATAT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43247846	TATATATA others(22): Show TATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02897.hp2 NA18959.hp1 HG02897.hp2 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0006 a0001c0001t0005 a0001c0002t0006	a0001c0001t0005g0135 a0001c0002t0006g0160 a0001c0001t0005g0135 a0001c0002t0006g0160	2	188	0.0106	-29	c.161 others(50): Show c.1612-11137_1612-11109delTATATATATATATATATATATATA TATAT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43247852	TATATATA others(22): Show TATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	188	0.0053	-29	c.161 others(50): Show c.1612-11143_1612-11115delTATATATATATATATATATATATA TATAT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43790583	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0006 a0001c0010t0006	a0001c0010t0006g0161 a0001c0010t0006g0161	1	188	0.0053	-29	c.-42 others(40): Show c.-4245_-4217delTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding		3612		chr13	TogoVar
ENPEP_chr4_110471155_110570285	110527441	TCAGGGAG others(22): Show TCAGGGAGTGTCTGTATACTCCCTGAACTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	312	0.0032	-29	c.172 others(48): Show c.1728-3756_1728-3728delCAGGGAGTGTCTGTATACTCCCTGAA CTC	ENPEP	ENSG00000138792.10	transcript	ENST00000265162.10	protein_coding	10/19			chr4	TogoVar
EPB41L2_chr6_130834347_131068245	130929343	TGGATGTT others(22): Show TGGATGTTTATAGAGCTTACTTTTTACTTC	T T	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19082.hp1 NA18951.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0354 a0001c0001t0003g0355	2	356	0.0056	-29	c.706 others(46): Show c.706-2663_706-2635delGAAGTAAAAAGTAAGCTCTATAAACATC C	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L4B_chr9_109166974_109326059	109176027	TCCCTTGT others(22): Show TCCCTTGTCAATATCACACACACGCACACA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02647.hp2 others(3): Show HG01884.hp1 HG02109.hp2 HG02647.hp2 HG02895.hp2 HG03209.hp1 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0012 a0001c0002t0022 a0001c0010t0058 a0001c0002t0012 a0001c0002t0022 a0001c0010t0058	a0001c0002t0012g0135 a0001c0002t0012g0208 a0001c0002t0012g0209 others(3): Show a0001c0002t0012g0135 a0001c0002t0012g0208 a0001c0002t0012g0209 a0001c0002t0022g0075 a0001c0002t0022g0079 a0001c0010t0058g0215	6	318	0.0189	-29	c.263 others(46): Show c.2633+495_2633+523delTGTGTGCGTGTGTGTGATATTGACAAGG G	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	25/25			chr9	TogoVar
EPB41L4B_chr9_109166974_109326059	109226666	AGAATATA others(22): Show AGAATATATATATATGAAGAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01071.hp1 HG01516.hp2 HG00735.hp1 HG01071.hp1 HG01516.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0003 a0003c0007 a0001c0002 a0002c0003 a0003c0007	a0001c0002t0017 a0002c0003t0032 a0003c0007t0004 a0001c0002t0017 a0002c0003t0032 a0003c0007t0004	a0001c0002t0017g0168 a0002c0003t0032g0233 a0003c0007t0004g0027 a0001c0002t0017g0168 a0002c0003t0032g0233 a0003c0007t0004g0027	3	318	0.0094	-29	c.141 others(48): Show c.1410-9550_1410-9522delATATATATATTCTTCATATATATATA TTC	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	15/25			chr9	TogoVar
EPB41L4B_chr9_109166974_109326059	109226738	AGAATATA others(22): Show AGAATATATATATGAAGAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0299 a0001c0002t0034g0299	1	318	0.0031	-29	c.141 others(48): Show c.1410-9622_1410-9594delATATATATATATTCTTCATATATATA TTC	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	15/25			chr9	TogoVar
EPCAM_chr2_47364311_47392020	47365512	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	450	0.0022	-29	c.-39 others(40): Show c.-3993_-3965delTATATATATATATATATATATATTTTTTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3798		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47383607	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01975.hp1 HG02273.hp2 others(7): Show HG01106.hp1 HG01975.hp1 HG02273.hp2 HG03927.hp2 NA18747.hp1 NA18940.hp2 NA18942.hp1 NA18945.hp2 NA18955.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0219 a0001c0001t0002g0220 others(2): Show a0001c0001t0002g0003 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0230 a0001c0001t0002g0232	10	450	0.0222	-29	c.859 others(46): Show c.859-1542_859-1514delTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPHA2_chr1_16119337_16161069	16136692	GGAAGAAG others(22): Show GGAAGAAGAAGAAGAAGAAGAAAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01106.hp1 others(3): Show HG01069.hp1 HG01071.hp2 HG01106.hp1 HG03041.hp1 HG03209.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 a0001c0001 a0001c0002 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0002c0008t0003 a0001c0001t0001 a0001c0002t0001 a0002c0008t0003	a0001c0001t0001g0256 a0001c0002t0001g0011 a0001c0002t0001g0076 others(2): Show a0001c0001t0001g0256 a0001c0002t0001g0011 a0001c0002t0001g0076 a0001c0002t0001g0079 a0002c0008t0003g0110	6	312	0.0192	-29	c.131 others(46): Show c.1313-951_1313-923delTTCTTCTTTTCTTCTTCTTCTTCTTCTT C	EPHA2	ENSG00000142627.13	transcript	ENST00000358432.8	protein_coding	5/16			chr1	TogoVar
EPHA4_chr2_221413027_221577304	221526852	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0093 a0001c0003t0003g0093	1	294	0.0034	-29	c.824 others(48): Show c.824-25709_824-25681delTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	3/17			chr2	TogoVar
EPHB1_chr3_134790260_135265467	134984559	TAGAGAGG others(22): Show TAGAGAGGGAAGGGCCCTCACCTGGGCCCC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG04115.hp2 HG04204.hp2 others(1): Show HG03195.hp2 HG04115.hp2 HG04204.hp2 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0006 a0002c0014 a0001c0003 a0001c0006 a0002c0014	a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 others(1): Show a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0002c0014t0002	a0001c0003t0001g0062 a0001c0003t0002g0061 a0001c0006t0001g0086 others(1): Show a0001c0003t0001g0062 a0001c0003t0002g0061 a0001c0006t0001g0086 a0002c0014t0002g0031	4	134	0.0299	-29	c.805 others(48): Show c.805+32585_805+32613delCCTGGGCCCCAGAGAGGGAAGGGCCC TCA	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB2_chr1_22705839_22926500	22818073	GGGCTTAG others(22): Show GGGCTTAGACACTTAACCTCTCTGATCCTT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02015.hp1 HG02074.hp2 others(7): Show HG00621.hp2 HG02015.hp1 HG02074.hp2 NA18948.hp2 NA18999.hp2 NA19000.hp2 NA19063.hp2 NA19065.hp2 NA19088.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0009 a0001c0001t0002g0029 a0001c0001t0003g0002 others(7): Show a0001c0001t0001g0009 a0001c0001t0002g0029 a0001c0001t0003g0002 a0001c0001t0003g0005 a0001c0001t0003g0028 a0001c0002t0001g0004 a0001c0002t0001g0026 a0001c0002t0001g0175 a0001c0002t0001g0198 a0001c0002t0001g0217	10	248	0.0403	-29	c.811 others(48): Show c.811+32998_811+33026delGGCTTAGACACTTAACCTCTCTGATC CTT	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	3/15			chr1	TogoVar
EPPIN_chr20_45535626_45552401	45548640	CCTTTCCT others(22): Show CCTTTCCTTTCTTTTCTTTTCTTTTCTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01070.hp2 HG01071.hp2 others(8): Show HG00642.hp2 HG01070.hp2 HG01071.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02293.hp1 NA19072.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0006 a0002c0002t0004 a0002c0002t0006	a0002c0002t0004g0022 a0002c0002t0006g0008 a0002c0002t0004g0022 a0002c0002t0006g0008	11	438	0.0251	-29	c.-13 others(40): Show c.-1312_-1284delAAAAGAAAAGAAAAGAAAAGAAAGGAAAG	EPPIN	ENSG00000101448.14	transcript	ENST00000354280.9	protein_coding		1240		chr20	TogoVar
ERBB4_chr2_211370717_212543802	212009029	AATGTTTT others(22): Show AATGTTTTTCTAAACAGAAATTTTAGTTAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01175.hp1 others(46): Show HG01069.hp1 HG01069.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03834.hp1 HG03834.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0002t0001 a0001c0002t0013 a0001c0002t0016 a0001c0002t0018 a0001c0004t0021 a0002c0003t0001	a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0002g0016 others(46): Show a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0002g0016 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0047 a0001c0001t0003g0017 a0001c0001t0003g0040 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0004g0003 a0001c0001t0004g0008 a0001c0001t0004g0011 a0001c0001t0005g0015 a0001c0001t0005g0035 a0001c0001t0005g0044 a0001c0001t0006g0039 a0001c0001t0007g0018 a0001c0001t0007g0043 a0001c0001t0008g0004 a0001c0001t0008g0013 a0001c0001t0009g0023 a0001c0001t0010g0005 a0001c0001t0010g0022 a0001c0001t0011g0042 a0001c0001t0012g0001 a0001c0001t0014g0007 a0001c0001t0015g0034 a0001c0001t0017g0029 a0001c0001t0019g0002 a0001c0001t0020g0028 a0001c0001t0023g0012 a0001c0001t0024g0038 a0001c0001t0026g0052 a0001c0001t0027g0055 a0001c0001t0029g0054 a0001c0001t0030g0056 a0001c0002t0001g0020 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0048 a0001c0002t0013g0027 a0001c0002t0016g0019 a0001c0002t0018g0010 a0001c0004t0021g0009 a0002c0003t0001g0014	49	56	0.8750	-29	c.235 others(48): Show c.235-61442_235-61414delATAACTAAAATTTCTGTTTAGAAAAA CAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212015042	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	56	0.0179	-29	c.235 others(48): Show c.235-67455_235-67427delATATATATATATATATATATATATAT ATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERCC1_chr19_45402334_45428917	45420522	CCACCTCT others(22): Show CCACCTCTTCCCACACCTCCTGCCTCCTCG	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0024 a0001c0002t0010g0024	2	420	0.0048	-29	c.322 others(43): Show c.322-124_322-96delCGAGGAGGCAGGAGGTGTGGGAAGAGGTG	ERCC1	ENSG00000012061.17	transcript	ENST00000300853.8	protein_coding	3/9			chr19	TogoVar
ERI3_chr1_44216070_44360257	44342841	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	340	0.0029	-29	c.212 others(46): Show c.212-3548_212-3520delAAAAAAAAAAAAATATATATATATATAT A	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERICH1_chr8_659200_736224	676417	CGGCGAGG others(22): Show CGGCGAGGACAGAGACGCGGCGGCCCCTCG	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01192.hp1 HG01175.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0111 a0001c0002t0001g0112	2	378	0.0053	-29	c.305 others(46): Show c.305-2399_305-2371delCGAGGGGCCGCCGCGTCTCTGTCCTCGC C	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	676445	CGGCGAGG others(22): Show CGGCGAGGACAGAGACGCGGCGGCCCCTCG	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02055.hp1 HG02886.hp1 others(1): Show HG01261.hp1 HG02055.hp1 HG02886.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001	a0001c0001t0002g0253 a0001c0002t0001g0014 a0001c0003t0001g0218 others(1): Show a0001c0001t0002g0253 a0001c0002t0001g0014 a0001c0003t0001g0218 a0001c0003t0001g0224	4	378	0.0106	-29	c.305 others(46): Show c.305-2427_305-2399delCGAGGGGCCGCCGCGTCTCTGTCCTCGC C	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	682912	CTCTAGGT others(22): Show CTCTAGGTGCTAAATAAAAAGTAGTAAACT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA20300.hp2 HG02280.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0002c0005t0001 a0001c0001t0002 a0002c0005t0001	a0001c0001t0002g0330 a0002c0005t0001g0237 a0001c0001t0002g0330 a0002c0005t0001g0237	2	378	0.0053	-29	c.305 others(46): Show c.305-8894_305-8866delAGTTTACTACTTTTTATTTAGCACCTAG A	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar

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