Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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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
EDC3_chr15_74625558_74701024	74670010	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02818.hp1 HG02145.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0246 a0001c0001t0001g0248	2	286	0.0070	-13	c.484 others(30): Show c.484+1432_484+1444delAAAAAAAAAAAAA	EDC3	ENSG00000179151.13	transcript	ENST00000315127.9	protein_coding	3/6			chr15	TogoVar
EDEM3_chr1_184685237_184759858	184744248	AAATATAT others(6): Show AAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0064 a0001c0003t0003g0064	1	324	0.0031	-13	c.204 others(30): Show c.204+5286_204+5298delATATATATATATT	EDEM3	ENSG00000116406.20	transcript	ENST00000318130.13	protein_coding	2/19			chr1	TogoVar
EDF1_chr9_136857119_136871308	136871053	AGGCCTCC others(6): Show AGGCCTCCCAAAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	378	0.0027	-13	c.-48 others(24): Show c.-4808_-4796delACTTTGGGAGGCC	EDF1	ENSG00000107223.13	transcript	ENST00000224073.6	protein_coding		4746		chr9	TogoVar
EDIL3_chr5_83935554_84389880	84100500	CAGTCATA others(6): Show CAGTCATAAGTGGG	C C	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0140 a0001c0001t0004g0140	1	158	0.0063	-13	c.651 others(30): Show c.651+6136_651+6148delCCCACTTATGACT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	6/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84160742	TTTCTTTC others(6): Show TTTCTTTCCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02145.hp2 HG03486.hp1 HG00323.hp2 HG02145.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0003t0003 a0001c0001t0001 a0001c0001t0006 a0001c0003t0003	a0001c0001t0001g0067 a0001c0001t0006g0072 a0001c0003t0003g0073 a0001c0001t0001g0067 a0001c0001t0006g0072 a0001c0003t0003g0073	3	158	0.0190	-13	c.355 others(32): Show c.355+19638_355+19650delGGAAAGGAAAGAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	4/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84319494	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	158	0.0063	-13	c.67+ others(30): Show c.67+64801_67+64813delTTTTTTTTTTTTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDN1_chr6_12285361_12302194	12299524	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00642.hp1 others(34): Show HG00140.hp1 HG00280.hp1 HG00642.hp1 HG00733.hp1 HG01070.hp2 HG01071.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG02135.hp2 HG02280.hp1 HG02559.hp1 HG02717.hp1 HG02896.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG06807.hp2 NA18955.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19063.hp2 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0003t0001 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0089 a0001c0001t0001g0101 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0002g0005 a0001c0001t0002g0021 a0001c0001t0002g0048 a0001c0001t0002g0061 a0001c0001t0002g0067 a0001c0001t0002g0095 a0001c0001t0003g0024 a0001c0001t0003g0062 a0001c0001t0003g0072 a0001c0001t0004g0029 a0001c0001t0012g0050 a0001c0003t0001g0023 a0001c0003t0001g0082 a0001c0003t0001g0114 a0001c0003t0001g0122 a0001c0003t0001g0128 a0002c0002t0001g0003 a0002c0002t0003g0020	37	452	0.0819	-13	c.34 others(24): Show c.3458_*3470delTTTTTTTTTTTTT	EDN1	ENSG00000078401.7	transcript	ENST00000379375.6	protein_coding		2331		chr6	TogoVar
EDNRA_chr4_147476097_147549954	147541067	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03540.hp2 HG02145.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0220 a0001c0002t0006g0251 a0001c0002t0006g0220 a0001c0002t0006g0251	2	280	0.0071	-13	c.114 others(30): Show c.1143+598_1143+610delAAAAAAAAAAAAA	EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
EEA1_chr12_92765637_92934295	92869752	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	244	0.0041	-13	c.118 others(30): Show c.118-4778_118-4766delTTTTTTTTTTTTT	EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	2/28			chr12	TogoVar
EEA1_chr12_92765637_92934295	92895133	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02257.hp2 HG02723.hp1 others(9): Show HG00738.hp1 HG02257.hp2 HG02723.hp1 HG03041.hp1 HG03688.hp2 NA18939.hp2 NA18964.hp1 NA19054.hp2 NA19062.hp2 NA19068.hp2 NA19240.hp2 NA20805.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0004 a0004c0006 a0005c0007 a0002c0004 a0004c0006 a0005c0007	a0002c0004t0018 a0004c0006t0008 a0004c0006t0021 others(2): Show a0002c0004t0018 a0004c0006t0008 a0004c0006t0021 a0004c0006t0022 a0005c0007t0008	a0002c0004t0018g0211 a0004c0006t0008g0002 a0004c0006t0008g0006 others(9): Show a0002c0004t0018g0211 a0004c0006t0008g0002 a0004c0006t0008g0006 a0004c0006t0008g0007 a0004c0006t0008g0011 a0004c0006t0021g0012 a0004c0006t0022g0004 a0005c0007t0008g0003 a0005c0007t0008g0005 a0005c0007t0008g0008 a0005c0007t0008g0009 a0005c0007t0008g0010	12	244	0.0492	-13	c.25- others(28): Show c.25-3425_25-3413delAAAAAAAAAAAAA	EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	1/28			chr12	TogoVar
EEA1_chr12_92765637_92934295	92921882	AAAAAGAA others(6): Show AAAAAGAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0086 a0006c0009t0001g0086	1	244	0.0041	-13	c.24+ others(28): Show c.24+7148_24+7160delCTTTTTTTCTTTT	EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	1/28			chr12	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124774374	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02965.hp2 HG03209.hp2 others(3): Show HG01891.hp2 HG02965.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp2 HG03579.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0005 a0006c0004 a0001c0001 a0001c0005 a0006c0004	a0001c0001t0006 a0001c0005t0006 a0006c0004t0006 a0001c0001t0006 a0001c0005t0006 a0006c0004t0006	a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0158 others(3): Show a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0158 a0001c0001t0006g0160 a0001c0005t0006g0159 a0006c0004t0006g0155	6	358	0.0168	-13	c.399 others(28): Show c.399+288_399+300delTTTTTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124779664	TGTGAACC others(6): Show TGTGAACCTGGGAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(150): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02257.hp2 HG02451.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02738.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19054.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19082.hp2 NA19086.hp1 NA19087.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0008 a0001c0001 a0002c0002 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0002c0002t0001 a0002c0002t0007 a0003c0008t0001	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 others(150): Show a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0350 a0001c0001t0002g0226 a0001c0001t0002g0233 a0001c0001t0007g0107 a0001c0001t0007g0152 a0001c0001t0007g0222 a0001c0001t0007g0257 a0001c0001t0015g0171 a0001c0001t0016g0117 a0001c0001t0019g0111 a0001c0001t0020g0352 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0007g0009 a0002c0002t0007g0013 a0003c0008t0001g0256	153	358	0.4274	-13	c.292 others(30): Show c.292-4895_292-4883delCTCCCAGGTTCAC	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124795595	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0322 a0001c0001t0004g0322	1	358	0.0028	-13	c.-37 others(24): Show c.-3775_-3763delAAAAAAAAAAAAA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding		3709		chr10	TogoVar
EEF1E1_chr6_8074395_8107548	8099770	ACACACAC others(6): Show ACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	442	0.0023	-13	c.88- others(28): Show c.88-2316_88-2304delGTGTGTGTGTGTG	EEF1E1	ENSG00000124802.12	transcript	ENST00000379715.10	protein_coding	1/3			chr6	TogoVar
EEF1E1_chr6_8074395_8107548	8101244	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02257.hp2 HG02280.hp1 others(6): Show HG01243.hp2 HG02257.hp2 HG02280.hp1 HG02809.hp1 HG02895.hp2 HG03579.hp2 NA18963.hp1 NA18982.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0283 others(4): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0290	9	442	0.0204	-13	c.87+ others(28): Show c.87+1178_87+1190delATATATATATATA	EEF1E1	ENSG00000124802.12	transcript	ENST00000379715.10	protein_coding	1/3			chr6	TogoVar
EEF1G_chr11_62554596_62578891	62564758	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	262	0.0038	-13	c.857 others(30): Show c.857+2035_857+2047delTTTTTTTTTTTTT	EEF1G	ENSG00000254772.10	transcript	ENST00000329251.5	protein_coding	7/9			chr11	TogoVar
EEF2K_chr16_22201278_22293738	22226165	CTGGGTGT others(6): Show CTGGGTGTTTTTCA	C C	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0164 a0001c0002t0001g0164	1	290	0.0035	-13	c.246 others(28): Show c.246+191_246+203delTGGGTGTTTTTCA	EEF2K	ENSG00000103319.12	transcript	ENST00000263026.10	protein_coding	2/17			chr16	TogoVar
EEF2_chr19_3971056_3990463	3978803	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02451.hp2 others(19): Show HG02109.hp2 HG02145.hp2 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02630.hp2 HG02723.hp1 HG02809.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0032 others(2): Show a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0032 a0001c0002t0002g0039 a0001c0002t0002g0152	22	403	0.0546	-13	c.171 others(30): Show c.1713+513_1713+525delTTTTTTTTTTTTT	EEF2	ENSG00000167658.16	transcript	ENST00000309311.7	protein_coding	11/14			chr19	TogoVar
EEFSEC_chr3_128148481_128413646	128211837	CTTTTTCT others(6): Show CTTTTTCTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02559.hp2 NA20300.hp2 HG01255.hp2 HG02559.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0205 a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0205	3	272	0.0110	-13	c.317 others(32): Show c.317-34993_317-34981delCTTTTCTTTTTTT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
EEIG1_chr9_127935582_127985989	127967791	TGCTACAG others(6): Show TGCTACAGGACCTG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02970.hp2 HG06807.hp1 HG01884.hp2 HG02970.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	3	342	0.0088	-13	c.146 others(32): Show c.146+12188_146+12200delCAGGTCCTGTAGC	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding	1/10			chr9	TogoVar
EEIG2_chr1_108555100_108644322	108625792	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	272	0.0037	-13	c.556 others(30): Show c.556+1045_556+1057delTGTGTGTGTGTGT	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	6/10			chr1	TogoVar
EEIG2_chr1_108555100_108644322	108625796	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	272	0.0037	-13	c.556 others(30): Show c.556+1049_556+1061delTGTGTGTGTGTGT	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	6/10			chr1	TogoVar
EEIG2_chr1_108555100_108644322	108625802	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	272	0.0037	-13	c.556 others(30): Show c.556+1055_556+1067delTGTGTGTGTGTGT	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	6/10			chr1	TogoVar
EEPD1_chr7_36148254_36306538	36188016	TTGAACAC others(6): Show TTGAACACTTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02451.hp1 others(16): Show HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02622.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp1 NA19030.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0012 a0001c0001 a0001c0004 a0001c0012	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(8): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0018 a0001c0001t0032 a0001c0001t0035 a0001c0004t0011 a0001c0004t0016 a0001c0012t0001	a0001c0001t0002g0094 a0001c0001t0005g0343 a0001c0001t0009g0213 others(16): Show a0001c0001t0002g0094 a0001c0001t0005g0343 a0001c0001t0009g0213 a0001c0001t0009g0313 a0001c0001t0009g0315 a0001c0001t0010g0285 a0001c0001t0012g0185 a0001c0001t0018g0339 a0001c0001t0018g0344 a0001c0001t0018g0345 a0001c0001t0018g0346 a0001c0001t0032g0192 a0001c0001t0035g0100 a0001c0001t0035g0327 a0001c0004t0011g0340 a0001c0004t0011g0341 a0001c0004t0011g0342 a0001c0004t0016g0173 a0001c0012t0001g0321	19	346	0.0549	-13	c.878 others(32): Show c.878+32816_878+32828delGAACACTTGTCCT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36240249	TCAGAGCA others(6): Show TCAGAGCAAGAGAC	T T	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	346	0.0029	-13	c.930 others(30): Show c.930+1215_930+1227delAGAGCAAGAGACC	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36292385	TTTTCTTT others(6): Show TTTTCTTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01255.hp1 NA18944.hp2 others(1): Show HG00438.hp2 HG01255.hp1 NA18944.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0158 others(1): Show a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0158 a0001c0001t0010g0287	4	346	0.0116	-13	c.131 others(32): Show c.1316-4591_1316-4579delCTTTTCTTTCTTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB12_chr3_129396321_129433636	129397961	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02922.hp2 HG02257.hp1 HG02922.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0181 a0012c0012t0001g0182 a0012c0012t0001g0181 a0012c0012t0001g0182	2	386	0.0052	-13	c.36 others(24): Show c.3619_*3631delAAAAAAAAAAAAA	EFCAB12	ENSG00000172771.13	transcript	ENST00000505956.6	protein_coding		3359		chr3	TogoVar
EFCAB14_chr1_46670159_46724114	46720529	TAAATAAA others(6): Show TAAATAAATAAATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	374	0.0027	-13	c.-24 others(24): Show c.-2455_-2443delTATTTATTTATTT	EFCAB14	ENSG00000159658.15	transcript	ENST00000371933.8	protein_coding		1416		chr1	TogoVar
EFCAB5_chr17_29936634_30113452	30026961	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0002 a0014c0021t0002	a0014c0021t0002g0012 a0014c0021t0002g0012	1	248	0.0040	-13	c.104 others(32): Show c.1045-7238_1045-7226delTTTTTTTTTTTTT	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30097048	ACATATAT others(6): Show ACATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp1 HG00733.hp1 others(23): Show HG00408.hp1 HG00639.hp1 HG00733.hp1 HG01081.hp2 HG01109.hp2 HG01169.hp2 HG01361.hp2 HG01891.hp1 HG02055.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02809.hp2 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03540.hp1 HG03669.hp1 NA18963.hp2 NA19004.hp1 NA19030.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009	a0001c0001 a0001c0024 a0002c0002 others(8): Show a0001c0001 a0001c0024 a0002c0002 a0002c0005 a0002c0016 a0003c0003 a0003c0006 a0004c0004 a0007c0009 a0008c0011 a0009c0010	a0001c0001t0001 a0001c0024t0004 a0002c0002t0002 others(8): Show a0001c0001t0001 a0001c0024t0004 a0002c0002t0002 a0002c0005t0002 a0002c0016t0002 a0003c0003t0002 a0003c0006t0002 a0004c0004t0002 a0007c0009t0002 a0008c0011t0002 a0009c0010t0002	a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0123 others(22): Show a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0024t0004g0159 a0002c0002t0002g0001 a0002c0002t0002g0032 a0002c0002t0002g0034 a0002c0002t0002g0048 a0002c0002t0002g0076 a0002c0005t0002g0039 a0002c0016t0002g0014 a0003c0003t0002g0134 a0003c0003t0002g0135 a0003c0003t0002g0136 a0003c0003t0002g0137 a0003c0003t0002g0139 a0003c0003t0002g0215 a0003c0006t0002g0005 a0004c0004t0002g0099 a0007c0009t0002g0100 a0007c0009t0002g0102 a0008c0011t0002g0020 a0008c0011t0002g0021 a0009c0010t0002g0094	26	248	0.1048	-13	c.432 others(32): Show c.4321+4113_4321+4125delCATATATATATAT	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	22/22			chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30111917	ACTTGGTT others(6): Show ACTTGGTTACTACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0002 a0014c0021t0002	a0014c0021t0002g0012 a0014c0021t0002g0012	1	248	0.0040	-13	c.38 others(24): Show c.3894_*3906delCTTGGTTACTACC	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding		3466		chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43599509	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00597.hp2 others(70): Show HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG01070.hp2 HG01074.hp2 HG01169.hp2 HG01255.hp2 HG01261.hp1 HG01934.hp2 HG02004.hp2 HG02040.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02300.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03195.hp1 HG03486.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG04115.hp1 HG06807.hp2 NA18939.hp2 NA18941.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18974.hp1 NA18979.hp2 NA18984.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA20129.hp1 NA20905.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0013	a0001c0001 a0001c0046 a0001c0047 others(4): Show a0001c0001 a0001c0046 a0001c0047 a0002c0002 a0008c0008 a0008c0029 a0013c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0046t0001 a0001c0047t0001 a0002c0002t0001 a0008c0008t0001 a0008c0029t0001 a0013c0018t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 others(70): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0239 a0001c0001t0002g0008 a0001c0001t0007g0238 a0001c0046t0001g0067 a0001c0047t0001g0178 a0002c0002t0001g0140 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0259 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0008c0008t0001g0026 a0008c0008t0001g0035 a0008c0008t0001g0036 a0008c0008t0001g0037 a0008c0008t0001g0038 a0008c0008t0001g0202 a0008c0029t0001g0034 a0013c0018t0001g0090 a0013c0018t0001g0092	73	290	0.2517	-13	c.287 others(30): Show c.2876+547_2876+559delTTTTTTTTTTTTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	23/31			chr22	TogoVar
EFCAB7_chr1_63518525_63577693	63562482	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0121	1	374	0.0027	-13	c.149 others(30): Show c.1497+627_1497+639delTATATATATATAA	EFCAB7	ENSG00000203965.13	transcript	ENST00000371088.5	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB8_chr20_32853923_32966845	32860493	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0003 a0006c0005t0003	a0006c0005t0003g0091 a0006c0005t0003g0091	1	284	0.0035	-13	c.-11 others(30): Show c.-11+1506_-11+1518delTTTTTTTTTTTTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32931761	AAAGAAAA others(6): Show AAAGAAAAAGAGTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG00733.hp1 others(29): Show HG00280.hp2 HG00642.hp1 HG00733.hp1 HG00741.hp2 HG01099.hp1 HG01123.hp1 HG01168.hp1 HG01192.hp1 HG01255.hp2 HG01261.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01943.hp2 HG01975.hp2 HG02293.hp1 HG02300.hp2 HG02683.hp2 HG02738.hp2 HG03017.hp2 HG03491.hp2 HG03688.hp1 HG03831.hp2 HG03927.hp2 HG04199.hp2 NA18522.hp2 NA18951.hp2 NA18952.hp1 NA18998.hp1 NA19081.hp2 NA20129.hp2	a0004 a0005 a0008 others(6): Show a0004 a0005 a0008 a0011 a0013 a0027 a0029 a0032 a0037	a0004c0004 a0005c0037 a0008c0007 others(6): Show a0004c0004 a0005c0037 a0008c0007 a0011c0010 a0013c0020 a0027c0029 a0029c0059 a0032c0064 a0037c0057	a0004c0004t0003 a0005c0037t0004 a0008c0007t0003 others(8): Show a0004c0004t0003 a0005c0037t0004 a0008c0007t0003 a0008c0007t0006 a0011c0010t0003 a0011c0010t0006 a0013c0020t0003 a0027c0029t0003 a0029c0059t0003 a0032c0064t0003 a0037c0057t0004	a0004c0004t0003g0058 a0004c0004t0003g0059 a0004c0004t0003g0066 others(29): Show a0004c0004t0003g0058 a0004c0004t0003g0059 a0004c0004t0003g0066 a0004c0004t0003g0068 a0004c0004t0003g0069 a0004c0004t0003g0073 a0004c0004t0003g0077 a0004c0004t0003g0084 a0004c0004t0003g0085 a0004c0004t0003g0086 a0004c0004t0003g0087 a0004c0004t0003g0189 a0004c0004t0003g0253 a0005c0037t0004g0183 a0008c0007t0003g0194 a0008c0007t0003g0280 a0008c0007t0003g0281 a0008c0007t0006g0013 a0008c0007t0006g0016 a0008c0007t0006g0044 a0011c0010t0003g0141 a0011c0010t0006g0009 a0011c0010t0006g0010 a0011c0010t0006g0030 a0011c0010t0006g0049 a0013c0020t0003g0080 a0013c0020t0003g0090 a0027c0029t0003g0117 a0027c0029t0003g0239 a0029c0059t0003g0071 a0032c0064t0003g0083 a0037c0057t0004g0249	32	284	0.1127	-13	c.279 others(30): Show c.2790+427_2790+439delAGAAAAAGAGTTA	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFEMP1_chr2_55860967_55928782	55904972	TTTTTTTC others(6): Show TTTTTTTCTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01167.hp1 HG01168.hp1 others(32): Show HG00558.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp2 HG01255.hp1 HG01516.hp1 HG01884.hp2 HG02055.hp1 HG02300.hp1 HG02809.hp2 HG02818.hp2 HG02897.hp1 HG02897.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp1 HG03490.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG06807.hp2 NA18906.hp1 NA18963.hp1 NA18968.hp1 NA18972.hp2 NA18981.hp2 NA18989.hp2 NA19030.hp2 NA19081.hp2 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0003t0002 a0003c0005t0001	a0001c0001t0001g0073 a0001c0001t0001g0083 a0001c0001t0001g0104 others(32): Show a0001c0001t0001g0073 a0001c0001t0001g0083 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0231 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0003g0056 a0001c0001t0004g0039 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0005g0128 a0001c0001t0006g0100 a0001c0001t0006g0101 a0001c0002t0001g0067 a0001c0002t0001g0070 a0001c0002t0001g0272 a0001c0003t0002g0289 a0001c0003t0002g0290 a0001c0003t0002g0291 a0001c0003t0002g0292 a0003c0005t0001g0273	35	350	0.1000	-13	c.517 others(32): Show c.517+12680_517+12692delGAAAAAGAAAAAA	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding	5/11			chr2	TogoVar
EFHC1_chr6_52415342_52502198	52419668	AAAAGAAA others(6): Show AAAAGAAAGGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG01496.hp2 others(11): Show HG00735.hp1 HG01099.hp1 HG01496.hp2 HG02257.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02818.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG06807.hp1 HG06807.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0021 a0002c0002t0024 a0002c0002t0027 others(8): Show a0002c0002t0021 a0002c0002t0024 a0002c0002t0027 a0002c0002t0033 a0002c0002t0048 a0002c0002t0058 a0002c0002t0063 a0002c0002t0068 a0002c0002t0071 a0002c0002t0086 a0004c0004t0010	a0002c0002t0021g0305 a0002c0002t0021g0306 a0002c0002t0024g0009 others(11): Show a0002c0002t0021g0305 a0002c0002t0021g0306 a0002c0002t0024g0009 a0002c0002t0024g0142 a0002c0002t0027g0009 a0002c0002t0033g0009 a0002c0002t0033g0146 a0002c0002t0048g0307 a0002c0002t0058g0147 a0002c0002t0063g0141 a0002c0002t0068g0009 a0002c0002t0071g0148 a0002c0002t0086g0071 a0004c0004t0010g0113	14	396	0.0354	-13	c.-74 others(22): Show c.-742_-730delAAAGAAAGGAAAG	EFHC1	ENSG00000096093.16	transcript	ENST00000371068.11	protein_coding		673		chr6	TogoVar
EFHC1_chr6_52415342_52502198	52450786	GTTTGTTT others(6): Show GTTTGTTTGTTTGT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03471.hp2 NA20805.hp1 HG01074.hp1 HG03471.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0107 a0001c0001t0001g0156 a0001c0001t0001g0157	3	396	0.0076	-13	c.574 others(30): Show c.574-1885_574-1873delGTTTGTTTGTTTT	EFHC1	ENSG00000096093.16	transcript	ENST00000371068.11	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
EFHC2_chrX_44142872_44348672	44251238	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	221	0.0045	-13	c.607 others(28): Show c.607-806_607-794delTTTTTTTTTTTTT	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	4/14			chrX	TogoVar
EFHC2_chrX_44142872_44348672	44251597	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02896.hp1 HG03041.hp2 others(3): Show HG02630.hp1 HG02896.hp1 HG03041.hp2 HG03471.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0022	a0001c0001t0001g0085 a0001c0001t0003g0016 a0001c0001t0004g0105 others(3): Show a0001c0001t0001g0085 a0001c0001t0003g0016 a0001c0001t0004g0105 a0001c0001t0009g0007 a0001c0001t0010g0193 a0001c0001t0022g0042	6	221	0.0272	-13	c.607 others(30): Show c.607-1165_607-1153delTTTTTTTTTTTTT	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	4/14			chrX	TogoVar
EFHD1_chr2_232628604_232687776	232685583	TAAATAAA others(6): Show TAAATAAATAAATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0218 a0004c0007t0001g0218	1	382	0.0026	-13	c.38 others(24): Show c.3865_*3877delAAATAAATAAATA	EFHD1	ENSG00000115468.13	transcript	ENST00000264059.8	protein_coding		2808		chr2	TogoVar
EFHD1_chr2_232628604_232687776	232687349	AAAAAAAA others(6): Show AAAAAAAAGAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG02523.hp1 HG02738.hp1 others(6): Show HG00738.hp1 HG02523.hp1 HG02738.hp1 HG02922.hp2 HG03490.hp2 HG03492.hp2 HG04204.hp1 NA18946.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0011 others(2): Show a0001c0001 a0001c0004 a0001c0011 a0002c0002 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0004t0003 a0001c0011t0003 a0002c0002t0001 a0002c0003t0001	a0001c0001t0003g0008 a0001c0001t0003g0242 a0001c0001t0004g0359 others(5): Show a0001c0001t0003g0008 a0001c0001t0003g0242 a0001c0001t0004g0359 a0001c0001t0006g0097 a0001c0004t0003g0187 a0001c0011t0003g0043 a0002c0002t0001g0197 a0002c0003t0001g0067	9	382	0.0236	-13	c.56 others(24): Show c.5631_*5643delAAAAAAAGAAAAG	EFHD1	ENSG00000115468.13	transcript	ENST00000264059.8	protein_coding		4574		chr2	TogoVar
EFL1_chr15_82125233_82267734	82180360	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02145.hp1 HG02273.hp2 others(9): Show HG00323.hp1 HG02145.hp1 HG02273.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG03130.hp2 HG03516.hp2 NA18950.hp1 NA18978.hp1 NA19030.hp2 NA20129.hp1	a0004 a0012 a0015 a0004 a0012 a0015	a0004c0006 a0012c0016 a0015c0020 a0004c0006 a0012c0016 a0015c0020	a0004c0006t0001 a0012c0016t0001 a0015c0020t0001 a0004c0006t0001 a0012c0016t0001 a0015c0020t0001	a0004c0006t0001g0053 a0004c0006t0001g0054 a0004c0006t0001g0056 others(9): Show a0004c0006t0001g0053 a0004c0006t0001g0054 a0004c0006t0001g0056 a0004c0006t0001g0187 a0004c0006t0001g0188 a0004c0006t0001g0189 a0004c0006t0001g0190 a0004c0006t0001g0191 a0004c0006t0001g0192 a0004c0006t0001g0337 a0012c0016t0001g0055 a0015c0020t0001g0193	12	368	0.0326	-13	c.175 others(34): Show c.1751-16389_1751-16377delGTTTTTTTTTTTT	EFL1	ENSG00000140598.16	transcript	ENST00000268206.12	protein_coding	15/19			chr15	TogoVar
EFNA2_chr19_1280873_1306431	1286920	GTGGGATG others(6): Show GTGGGATGGAGTCC	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	294	0.0034	-13	c.140 others(28): Show c.140+614_140+626delGGGATGGAGTCCT	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
EFNA2_chr19_1280873_1306431	1300241	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp1 HG03130.hp1 HG03704.hp2 HG00733.hp1 HG03130.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041	a0001c0001t0039g0072 a0001c0001t0040g0043 a0001c0001t0041g0050 a0001c0001t0039g0072 a0001c0001t0040g0043 a0001c0001t0041g0050	3	294	0.0102	-13	c.31 others(22): Show c.319_*331delTTTTTTTTTTTTT	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding	4/4	319	INFO_REALIGN_3_PRIME	chr19	TogoVar
EFNA2_chr19_1280873_1306431	1303692	TTTTAGAT others(6): Show TTTTAGATTTATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0138 a0001c0001t0047g0138	1	294	0.0034	-13	c.37 others(24): Show c.3748_*3760delTTTAGATTTATTA	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		2262		chr19	TogoVar
EFNA4_chr1_155058740_155074553	155068427	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	334	0.0030	-13	c.470 others(28): Show c.470-404_470-392delTTTTTTTTTTTTT	EFNA4	ENSG00000243364.8	transcript	ENST00000368409.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFNA5_chr5_107371894_107675937	107420528	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG00621.hp2 others(26): Show HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00738.hp2 HG01074.hp1 HG01175.hp2 HG01255.hp1 HG01515.hp2 HG01978.hp1 HG02273.hp2 HG02293.hp2 HG02602.hp2 HG03491.hp1 HG03491.hp2 HG03704.hp2 HG04199.hp2 NA18956.hp1 NA18957.hp1 NA18965.hp1 NA18978.hp1 NA18982.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19010.hp2 NA19056.hp2 NA19086.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0029 a0001c0001t0085 a0001c0001t0088 a0001c0001t0091 a0001c0001t0093 a0001c0001t0094 a0001c0001t0100	a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0002g0018 others(26): Show a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0029 a0001c0001t0002g0056 a0001c0001t0002g0069 a0001c0001t0002g0076 a0001c0001t0002g0081 a0001c0001t0002g0152 a0001c0001t0002g0158 a0001c0001t0003g0032 a0001c0001t0004g0153 a0001c0001t0005g0092 a0001c0001t0005g0097 a0001c0001t0008g0157 a0001c0001t0010g0050 a0001c0001t0010g0137 a0001c0001t0010g0141 a0001c0001t0010g0154 a0001c0001t0014g0016 a0001c0001t0029g0071 a0001c0001t0029g0150 a0001c0001t0085g0055 a0001c0001t0088g0010 a0001c0001t0091g0151 a0001c0001t0093g0058 a0001c0001t0094g0116 a0001c0001t0100g0190	29	190	0.1526	-13	c.418 others(30): Show c.418+6676_418+6688delCTTTTTTTTTTTT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	2/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107553140	GCCCCAGT others(6): Show GCCCCAGTCCTGTT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0169 a0001c0001t0006g0169	1	190	0.0053	-13	c.125 others(34): Show c.125+117336_125+117348delAACAGGACTGGGG	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar

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