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
DYSF_chr2_71461699_71691763	71543202	ACGCTCCT others(33): Show ACGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00642.hp2 others(71): Show HG00140.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01261.hp2 HG01433.hp1 HG01884.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp1 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18946.hp2 NA18947.hp2 NA18952.hp1 NA18962.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp1 NA19010.hp2 NA19064.hp2 NA19068.hp2 NA19085.hp1 NA19088.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0005 a0008 a0011 a0013 a0016 a0018	a0001c0001 a0001c0003 a0001c0004 others(27): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0019 a0001c0020 a0001c0031 a0001c0039 a0001c0040 a0001c0042 a0001c0048 a0001c0061 a0003c0043 a0003c0044 a0004c0011 a0005c0034 a0005c0035 a0008c0030 a0011c0033 a0013c0068 a0016c0038 a0018c0041	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0007t0002 a0001c0008t0001 a0001c0008t0002 a0001c0009t0001 a0001c0009t0008 a0001c0012t0001 a0001c0013t0001 a0001c0014t0001 a0001c0014t0002 a0001c0015t0001 a0001c0019t0002 a0001c0020t0001 a0001c0031t0001 a0001c0039t0001 a0001c0040t0001 a0001c0042t0001 a0001c0048t0002 a0001c0061t0002 a0003c0043t0001 a0003c0044t0001 a0004c0011t0001 a0005c0034t0002 a0005c0035t0001 a0008c0030t0001 a0011c0033t0002 a0013c0068t0001 a0016c0038t0001 a0018c0041t0001	a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 others(71): Show a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0183 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0011 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0039 a0001c0003t0001g0043 a0001c0003t0001g0047 a0001c0003t0001g0055 a0001c0003t0001g0065 a0001c0003t0001g0076 a0001c0003t0001g0098 a0001c0003t0001g0115 a0001c0003t0001g0128 a0001c0003t0002g0161 a0001c0004t0001g0025 a0001c0004t0001g0030 a0001c0004t0001g0031 a0001c0004t0001g0032 a0001c0004t0001g0080 a0001c0004t0003g0112 a0001c0004t0003g0113 a0001c0004t0003g0114 a0001c0005t0001g0062 a0001c0005t0001g0070 a0001c0005t0001g0074 a0001c0005t0001g0092 a0001c0005t0001g0143 a0001c0005t0002g0177 a0001c0006t0001g0072 a0001c0006t0001g0122 a0001c0006t0002g0151 a0001c0006t0002g0176 a0001c0006t0003g0204 a0001c0007t0002g0189 a0001c0008t0001g0109 a0001c0008t0001g0127 a0001c0008t0002g0157 a0001c0008t0002g0178 a0001c0009t0001g0053 a0001c0009t0001g0064 a0001c0009t0008g0196 a0001c0012t0001g0033 a0001c0012t0001g0147 a0001c0012t0001g0208 a0001c0013t0001g0057 a0001c0014t0001g0004 a0001c0014t0002g0175 a0001c0015t0001g0034 a0001c0015t0001g0207 a0001c0019t0002g0171 a0001c0020t0001g0132 a0001c0020t0001g0133 a0001c0031t0001g0121 a0001c0039t0001g0061 a0001c0040t0001g0096 a0001c0042t0001g0141 a0001c0048t0002g0190 a0001c0061t0002g0001 a0003c0043t0001g0117 a0003c0044t0001g0023 a0004c0011t0001g0103 a0005c0034t0002g0153 a0005c0035t0001g0123 a0008c0030t0001g0016 a0011c0033t0002g0152 a0013c0068t0001g0202 a0016c0038t0001g0015 a0018c0041t0001g0119	74	206	0.3592	-40	c.157 others(59): Show c.1576+3974_1576+4013delCTCCCAGACGGGGTCGCGGCCGGGCA GAGGCGCTCCTCAC	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	17/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71571470	GCACACAC others(33): Show GCACACACACATCACACCCAGCACGCACAGATCACACCCAC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0043 a0001c0003t0001g0043	1	206	0.0049	-40	c.322 others(57): Show c.3228+738_3228+777delCATCACACCCAGCACGCACAGATCACAC CCACCACACACA	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	29/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
E2F2_chr1_23501438_23536233	23504022	CCTCCGCC others(33): Show CCTCCGCCCGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	394	0.0025	-40	c.58 others(51): Show c.5818_*5857delAGGCTCCTCACTTCTCAGACGGGGCGGTTGCCGG GCGGAG	E2F2	ENSG00000007968.7	transcript	ENST00000361729.3	protein_coding		2415		chr1	TogoVar
E2F2_chr1_23501438_23536233	23504035	ACCGCCCC others(33): Show ACCGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0160 a0002c0002t0001g0160	1	394	0.0025	-40	c.58 others(51): Show c.5805_*5844delCTGCCGGGCGGAGAGGCTCCTCACTTCTCAGACG GGGCGG	E2F2	ENSG00000007968.7	transcript	ENST00000361729.3	protein_coding		2402		chr1	TogoVar
E2F2_chr1_23501438_23536233	23504102	TCTCCGCC others(33): Show TCTCCGCCCGGCAGCCGCCCCGTCTGAGAAGTGAGGAGCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	384	0.0026	-40	c.57 others(51): Show c.5738_*5777delGGGCTCCTCACTTCTCAGACGGGGCGGCTGCCGG GCGGAG	E2F2	ENSG00000007968.7	transcript	ENST00000361729.3	protein_coding		2335		chr1	TogoVar
E2F2_chr1_23501438_23536233	23504142	CCTCCGCC others(33): Show CCTCCGCCCGGCAGCCGCCCCGTCTGAGAAGTGAGGAGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0048 a0003c0003t0002g0048	1	394	0.0025	-40	c.56 others(51): Show c.5698_*5737delAGGCTCCTCACTTCTCAGACGGGGCGGCTGCCGG GCGGAG	E2F2	ENSG00000007968.7	transcript	ENST00000361729.3	protein_coding		2295		chr1	TogoVar
EBF1_chr5_158690920_159104916	158866833	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp2 HG01081.hp2 others(19): Show HG00423.hp1 HG00642.hp2 HG01081.hp2 HG01346.hp1 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02723.hp1 HG02818.hp2 HG02896.hp1 HG03041.hp1 HG03239.hp2 HG03540.hp2 NA18942.hp2 NA18944.hp1 NA18954.hp1 NA19009.hp1 NA19030.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(14): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0024 a0001c0001t0026 a0001c0001t0029 a0001c0001t0047 a0001c0001t0055 a0001c0001t0056 a0001c0001t0071 a0001c0001t0085 a0001c0002t0001 a0001c0002t0081	a0001c0001t0002g0135 a0001c0001t0005g0157 a0001c0001t0006g0018 others(19): Show a0001c0001t0002g0135 a0001c0001t0005g0157 a0001c0001t0006g0018 a0001c0001t0007g0061 a0001c0001t0008g0184 a0001c0001t0008g0185 a0001c0001t0008g0186 a0001c0001t0008g0189 a0001c0001t0010g0065 a0001c0001t0010g0078 a0001c0001t0010g0081 a0001c0001t0011g0144 a0001c0001t0024g0174 a0001c0001t0026g0163 a0001c0001t0029g0005 a0001c0001t0047g0039 a0001c0001t0055g0047 a0001c0001t0056g0048 a0001c0001t0071g0064 a0001c0001t0085g0164 a0001c0002t0001g0095 a0001c0002t0081g0140	22	34	0.6471	-40	c.555 others(59): Show c.555-26763_555-26724delTATATATATATATATATATATATATA TATATATATATATA	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF2_chr8_25836725_26050413	26002884	AGGCGGGC others(33): Show AGGCGGGCAGGCAGGCGGGCAGGCGGGCAGGCGGGCAGGCG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0201 a0001c0001t0003g0201	1	188	0.0053	-40	c.551 others(59): Show c.551+30161_551+30200delCGCCTGCCCGCCTGCCCGCCTGCCCG CCTGCCTGCCCGCC	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	26002888	GGGCAGGC others(33): Show GGGCAGGCAGGCGGGCAGGCGGGCAGGCGGGCAGGCGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00621.hp2 others(75): Show HG00438.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00738.hp2 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01346.hp2 HG01496.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02129.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03710.hp2 HG03942.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18953.hp1 NA18953.hp2 NA18970.hp1 NA18998.hp2 NA19003.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19068.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0002t0001 a0001c0002t0003 a0001c0002t0011 a0001c0002t0013 a0001c0002t0015 a0001c0002t0016 a0001c0002t0024 a0001c0002t0032 a0001c0002t0033 a0001c0004t0001 a0001c0004t0003 a0001c0004t0010 a0001c0005t0001 a0002c0003t0001 a0002c0003t0005 a0002c0003t0007 a0002c0003t0035	a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0048 others(75): Show a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0107 a0001c0001t0002g0016 a0001c0001t0002g0033 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0056 a0001c0001t0002g0066 a0001c0001t0002g0081 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0003g0185 a0001c0001t0003g0200 a0001c0001t0003g0208 a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0041 a0001c0001t0004g0044 a0001c0001t0004g0059 a0001c0001t0004g0070 a0001c0001t0006g0163 a0001c0001t0006g0181 a0001c0001t0006g0214 a0001c0001t0012g0170 a0001c0001t0018g0006 a0001c0001t0020g0047 a0001c0001t0036g0159 a0001c0001t0038g0161 a0001c0001t0039g0211 a0001c0002t0001g0036 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0058 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0072 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0117 a0001c0002t0001g0123 a0001c0002t0003g0186 a0001c0002t0003g0195 a0001c0002t0003g0209 a0001c0002t0003g0216 a0001c0002t0003g0218 a0001c0002t0011g0199 a0001c0002t0011g0212 a0001c0002t0013g0015 a0001c0002t0013g0099 a0001c0002t0015g0035 a0001c0002t0016g0198 a0001c0002t0024g0082 a0001c0002t0032g0151 a0001c0002t0033g0158 a0001c0004t0001g0128 a0001c0004t0003g0197 a0001c0004t0003g0217 a0001c0004t0010g0005 a0001c0005t0001g0034 a0001c0005t0001g0146 a0002c0003t0001g0051 a0002c0003t0005g0054 a0002c0003t0005g0063 a0002c0003t0005g0064 a0002c0003t0005g0100 a0002c0003t0005g0101 a0002c0003t0005g0104 a0002c0003t0005g0105 a0002c0003t0007g0210 a0002c0003t0007g0213 a0002c0003t0007g0215 a0002c0003t0035g0157	78	215	0.3628	-40	c.551 others(59): Show c.551+30157_551+30196delTGCCCGCCTGCCCGCCTGCCCGCCTG CCCGCCTGCCTGCC	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	26002904	AGGCGGGC others(33): Show AGGCGGGCAGGCGGGCAGGCGGGCAGGCAGGCAGGCAGGCG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG01070.hp1 others(38): Show HG00438.hp1 HG00544.hp2 HG01070.hp1 HG01071.hp1 HG01123.hp2 HG01175.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01515.hp1 HG01891.hp1 HG02056.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02280.hp1 HG02451.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03704.hp1 NA18612.hp1 NA18946.hp1 NA18950.hp2 NA18964.hp1 NA18970.hp2 NA18998.hp1 NA19007.hp2 NA19065.hp2 NA19070.hp2 NA19087.hp1 NA19091.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0029 a0001c0001t0037 a0001c0002t0001 a0001c0002t0003 a0001c0002t0011 a0001c0002t0015 a0001c0002t0025 a0001c0004t0001 a0001c0004t0008 a0001c0004t0010 a0001c0005t0008	a0001c0001t0001g0019 a0001c0001t0001g0093 a0001c0001t0001g0097 others(38): Show a0001c0001t0001g0019 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0106 a0001c0001t0001g0120 a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0122 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0004g0090 a0001c0001t0004g0092 a0001c0001t0029g0144 a0001c0001t0037g0160 a0001c0002t0001g0030 a0001c0002t0001g0038 a0001c0002t0001g0065 a0001c0002t0001g0083 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0126 a0001c0002t0003g0187 a0001c0002t0011g0219 a0001c0002t0015g0040 a0001c0002t0025g0018 a0001c0004t0001g0017 a0001c0004t0001g0050 a0001c0004t0008g0154 a0001c0004t0010g0007 a0001c0005t0008g0155	41	217	0.1889	-40	c.551 others(59): Show c.551+30141_551+30180delCGCCTGCCTGCCTGCCTGCCCGCCTG CCCGCCTGCCCGCC	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBI3_chr19_4224523_4242528	4232797	AATTAATG others(33): Show AATTAATGAATGAATGAACGGATGAATGAATGAATGAATGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02723.hp1 others(10): Show HG01109.hp2 HG01891.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp2 NA19030.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0067 others(7): Show a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0067 a0001c0001t0001g0127 a0001c0001t0001g0221 a0001c0003t0002g0185 a0001c0003t0002g0215 a0002c0002t0001g0134 a0002c0002t0002g0066 a0002c0002t0002g0201	13	436	0.0298	-40	c.201 others(55): Show c.201-329_201-290delTAATGAATGAATGAACGGATGAATGAATGA ATGAATGGAT	EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
ECSCR_chr5_139443560_139467743	139446465	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0063 a0001c0001t0001g0064	2	135	0.0148	-40	c.23 others(51): Show c.2395_*2434delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2094		chr5	TogoVar
EDARADD_chr1_236389286_236489930	236447166	CTCCCTCT others(33): Show CTCCCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0235 a0002c0002t0001g0235	1	192	0.0052	-40	c.219 others(59): Show c.219+19719_219+19758delCCTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDA_chrX_69611113_70044472	69612261	GTTTTATT others(33): Show GTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG03041.hp2 HG02738.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0025 a0001c0001t0008g0107 a0001c0001t0003g0025 a0001c0001t0008g0107	2	14	0.1429	-40	c.-40 others(51): Show c.-4047_-4008delTTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTA	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding		3851		chrX	TogoVar
EDIL3_chr5_83935554_84389880	84160744	TCTTTCCT others(33): Show TCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(56): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00642.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01243.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01884.hp1 HG02015.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02148.hp1 HG02148.hp2 HG02280.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02683.hp1 HG02738.hp2 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03831.hp1 HG03831.hp2 HG04184.hp1 HG04184.hp2 NA18747.hp2 NA18946.hp1 NA18949.hp1 NA18949.hp2 NA18957.hp2 NA18969.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19083.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0003t0001 a0001c0003t0003	a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0024 others(56): Show a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0149 a0001c0001t0002g0013 a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0039 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0081 a0001c0001t0002g0089 a0001c0001t0002g0100 a0001c0001t0002g0105 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0141 a0001c0001t0003g0006 a0001c0001t0003g0010 a0001c0001t0003g0063 a0001c0001t0003g0067 a0001c0001t0003g0077 a0001c0001t0003g0111 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0004g0004 a0001c0001t0004g0023 a0001c0001t0004g0071 a0001c0001t0004g0092 a0001c0001t0004g0117 a0001c0001t0004g0127 a0001c0001t0004g0140 a0001c0001t0008g0091 a0001c0001t0009g0017 a0001c0001t0009g0137 a0001c0001t0012g0002 a0001c0002t0001g0011 a0001c0002t0001g0064 a0001c0002t0001g0079 a0001c0002t0001g0109 a0001c0002t0001g0128 a0001c0002t0003g0070 a0001c0002t0004g0110 a0001c0002t0007g0057 a0001c0002t0008g0005 a0001c0003t0001g0058 a0001c0003t0001g0090 a0001c0003t0003g0043	59	95	0.6211	-40	c.355 others(59): Show c.355+19609_355+19648delGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAG	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	4/10			chr5	TogoVar
EEF1A1_chr6_73510750_73526032	73524874	TTTTTGAG others(33): Show TTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	422	0.0024	-40	c.-39 others(51): Show c.-3945_-3906delCACTCCAGCCTGGGTGACAGAGTGAGACTCCATC TCAAAA	EEF1A1	ENSG00000156508.19	transcript	ENST00000309268.11	protein_coding		3843		chr6	TogoVar
EEPD1_chr7_36148254_36306538	36197177	TGCCACCC others(33): Show TGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCGGCA	T T	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0318 a0002c0003t0003g0318	1	344	0.0029	-40	c.879 others(59): Show c.879-41796_879-41757delTGGGAAGTGAGGAGCGTCTCCGCCCG GCAGCCACCCCGTC	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36271844	CTATTCTA others(33): Show CTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp2 HG01943.hp2 others(12): Show HG00642.hp1 HG01099.hp2 HG01943.hp2 HG01975.hp2 HG02027.hp2 HG02040.hp1 HG02572.hp1 HG02572.hp2 HG02896.hp2 HG02897.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp2 HG04228.hp1 NA18941.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0002 a0001c0001 a0002c0003 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0027 a0002c0003t0028 a0003c0002t0017 a0003c0002t0020 a0003c0002t0021 a0003c0002t0040	a0001c0001t0001g0092 a0001c0001t0001g0166 a0001c0001t0001g0179 others(12): Show a0001c0001t0001g0092 a0001c0001t0001g0166 a0001c0001t0001g0179 a0001c0001t0001g0323 a0001c0001t0002g0084 a0001c0001t0004g0201 a0001c0001t0006g0205 a0001c0001t0010g0105 a0001c0001t0027g0056 a0002c0003t0028g0007 a0002c0003t0028g0008 a0003c0002t0017g0049 a0003c0002t0020g0054 a0003c0002t0021g0062 a0003c0002t0040g0041	15	344	0.0436	-40	c.931 others(57): Show c.931-9255_931-9216delTATTCTATTCTATTCTATTCTATTGTAT TCTATTCTATTC	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB13_chr17_47318955_47446312	47397552	CATCTAGG others(33): Show CATCTAGGAAGTGAGGAGCGCCTCTTCCCGGCCGCCATCCT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0016 a0016	a0016c0020 a0016c0020	a0016c0020t0001 a0016c0020t0001	a0016c0020t0001g0346 a0016c0020t0001g0346	1	354	0.0028	-40	c.194 others(59): Show c.1945+1595_1945+1634delCCTCTTCCCGGCCGCCATCCTATCTA GGAAGTGAGGAGCG	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47420698	ACCCTCCG others(33): Show ACCCTCCGCCCGGCAGCCGCCCCATCTGAGAAGTGAGGAGC	A A	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	353	0.0028	-40	c.249 others(59): Show c.2494+5797_2494+5836delGCCCCATCTGAGAAGTGAGGAGCCCC TCCGCCCGGCAGCC	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43578800	CTACATGC others(33): Show CTACATGCAGGCATCATTCCCTACACGCAGGCATCATTCCG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp1 others(40): Show HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00639.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01175.hp1 HG01255.hp1 HG01257.hp1 HG01516.hp1 HG01517.hp1 HG01943.hp2 HG02074.hp2 HG02155.hp2 HG02451.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG03654.hp2 HG03669.hp1 HG03942.hp2 HG04228.hp1 NA18944.hp1 NA18950.hp2 NA18951.hp2 NA18961.hp1 NA18972.hp1 NA18974.hp2 NA18979.hp1 NA19005.hp2 NA19009.hp2 NA19057.hp2 NA19060.hp2 NA19066.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19091.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0011 a0017 a0029 a0031	a0001c0013 a0001c0035 a0002c0002 others(6): Show a0001c0013 a0001c0035 a0002c0002 a0002c0021 a0003c0003 a0011c0016 a0017c0041 a0029c0043 a0031c0044	a0001c0013t0001 a0001c0035t0001 a0002c0002t0001 others(8): Show a0001c0013t0001 a0001c0035t0001 a0002c0002t0001 a0002c0021t0001 a0003c0003t0001 a0003c0003t0008 a0011c0016t0001 a0011c0016t0006 a0017c0041t0001 a0029c0043t0001 a0031c0044t0001	a0001c0013t0001g0187 a0001c0013t0001g0188 a0001c0013t0001g0208 others(40): Show a0001c0013t0001g0187 a0001c0013t0001g0188 a0001c0013t0001g0208 a0001c0035t0001g0235 a0002c0002t0001g0141 a0002c0021t0001g0252 a0003c0003t0001g0023 a0003c0003t0001g0072 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0206 a0003c0003t0001g0207 a0003c0003t0001g0209 a0003c0003t0001g0210 a0003c0003t0001g0211 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0001g0214 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0222 a0003c0003t0001g0224 a0003c0003t0001g0225 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0228 a0003c0003t0001g0229 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0232 a0003c0003t0008g0287 a0011c0016t0001g0274 a0011c0016t0001g0281 a0011c0016t0006g0266 a0017c0041t0001g0189 a0029c0043t0001g0223 a0031c0044t0001g0218	43	285	0.1509	-40	c.322 others(59): Show c.3228+1624_3228+1663delCGGAATGATGCCTGCGTGTAGGGAAT GATGCCTGCATGTA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	25/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43784543	GTATATGT others(33): Show GTATATGTATATATACACATATATATGTGTACATATACACA	G G	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0234 a0005c0004t0001g0234	1	263	0.0038	-40	c.-7- others(55): Show c.-7-2258_-7-2219delTGTGTATATGTACACATATATATGTGTATA TATACATATA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43784591	GTATATAT others(33): Show GTATATATACACATATATATGTGTATATATACACATATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00642.hp2 others(34): Show HG00099.hp1 HG00323.hp1 HG00642.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01169.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01943.hp1 HG02083.hp1 HG02257.hp1 HG02602.hp2 HG03130.hp2 HG03491.hp1 HG03654.hp1 HG03669.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18983.hp1 NA18984.hp2 NA19007.hp1 NA19070.hp1 NA19091.hp1	a0002 a0004 a0005 others(4): Show a0002 a0004 a0005 a0009 a0012 a0024 a0028	a0002c0002 a0004c0012 a0005c0004 others(5): Show a0002c0002 a0004c0012 a0005c0004 a0005c0045 a0009c0011 a0012c0015 a0024c0036 a0028c0024	a0002c0002t0001 a0004c0012t0001 a0005c0004t0001 others(5): Show a0002c0002t0001 a0004c0012t0001 a0005c0004t0001 a0005c0045t0001 a0009c0011t0001 a0012c0015t0001 a0024c0036t0001 a0028c0024t0001	a0002c0002t0001g0121 a0002c0002t0001g0139 a0002c0002t0001g0140 others(34): Show a0002c0002t0001g0121 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0147 a0004c0012t0001g0019 a0004c0012t0001g0094 a0004c0012t0001g0095 a0004c0012t0001g0097 a0004c0012t0001g0134 a0005c0004t0001g0093 a0005c0004t0001g0103 a0005c0004t0001g0104 a0005c0004t0001g0105 a0005c0004t0001g0106 a0005c0004t0001g0107 a0005c0004t0001g0109 a0005c0004t0001g0110 a0005c0004t0001g0127 a0005c0004t0001g0135 a0005c0004t0001g0136 a0005c0004t0001g0137 a0005c0045t0001g0101 a0009c0011t0001g0096 a0009c0011t0001g0098 a0009c0011t0001g0112 a0009c0011t0001g0113 a0009c0011t0001g0114 a0012c0015t0001g0099 a0012c0015t0001g0100 a0012c0015t0001g0102 a0024c0036t0001g0138 a0028c0024t0001g0128	37	288	0.1285	-40	c.-7- others(55): Show c.-7-2306_-7-2267delTATATATGTGTATATATACACATATATATG TGTATATATA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFCAB8_chr20_32853923_32966845	32939125	CTCTTTCT others(33): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02257.hp2 HG01123.hp2 HG02257.hp2	a0005 a0020 a0005 a0020	a0005c0035 a0020c0025 a0005c0035 a0020c0025	a0005c0035t0001 a0020c0025t0001 a0005c0035t0001 a0020c0025t0001	a0005c0035t0001g0097 a0020c0025t0001g0195 a0005c0035t0001g0097 a0020c0025t0001g0195	2	79	0.0253	-40	c.279 others(59): Show c.2791-4472_2791-4433delTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFNA5_chr5_107371894_107675937	107569491	ATATATGT others(33): Show ATATATGTGTATATATATTTATATATGTGTGTATATATATT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0038 a0001c0001t0010g0038	1	190	0.0053	-40	c.125 others(61): Show c.125+100958_125+100997delAATATATATACACACATATATAAA TATATATACACATATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EGF_chr4_109907883_110018766	109919287	GTCTCTCT others(33): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03041.hp2 HG03139.hp1 others(2): Show HG02647.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0118 a0001c0001t0007g0119 others(1): Show a0001c0001t0007g0007 a0001c0001t0007g0118 a0001c0001t0007g0119 a0001c0001t0007g0121	5	35	0.1429	-40	c.127 others(57): Show c.127+5840_127+5879delTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTC	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
EIF2B4_chr2_27359352_27375338	27359431	CCTCTGCC others(33): Show CCTCTGCCCGGCCGCGACCCCGTCTGGGAGGTGAGGAGCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA19068.hp2 NA18988.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	376	0.0053	-40	c.49 others(51): Show c.4929_*4968delACGCTCCTCACCTCCCAGACGGGGTCGCGGCCGG GCAGAG	EIF2B4	ENSG00000115211.17	transcript	ENST00000347454.9	protein_coding		4920		chr2	TogoVar
EIF4A1_chr17_7567825_7584006	7571837	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG02698.hp1 HG04115.hp1 others(1): Show HG00408.hp1 HG02698.hp1 HG04115.hp1 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0002 a0001c0002t0001g0035 a0001c0002t0001g0037 others(1): Show a0001c0002t0001g0002 a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0004t0001g0014	4	308	0.0130	-40	c.-10 others(50): Show c.-1004_-965delTATATATATATATATATATATATATATATATATAT ATATA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		987		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7571870	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02074.hp2 others(11): Show HG01884.hp1 HG02055.hp2 HG02074.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02970.hp2 HG03209.hp2 HG06807.hp2 NA18522.hp2 NA19003.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001	a0001c0003t0001g0003 a0001c0003t0002g0051 a0001c0004t0001g0007 others(2): Show a0001c0003t0001g0003 a0001c0003t0002g0051 a0001c0004t0001g0007 a0001c0004t0001g0026 a0001c0004t0001g0028	14	425	0.0329	-40	c.-97 others(49): Show c.-971_-932delATATATATATATATATATATATATATATATATATAT ATAA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		954		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7571872	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 NA18747.hp2 NA18973.hp2 others(1): Show HG01167.hp2 NA18747.hp2 NA18973.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0015 a0001c0001t0001g0001 a0001c0001t0002g0015	4	432	0.0093	-40	c.-96 others(49): Show c.-969_-930delATATATATATATATATATATATATATATATATATAT AAAA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		952		chr17	TogoVar
EIF4G3_chr1_20801479_21181897	20943967	ATTTTTTT others(33): Show ATTTTTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0257 a0001c0001t0003g0257	1	177	0.0056	-40	c.824 others(57): Show c.824-1677_824-1638delACACACACACACACACACACACACACAC ACACAAAAAAAA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	13/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21023783	GCCCGGCC others(33): Show GCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02451.hp1 others(2): Show HG01884.hp2 HG02258.hp2 HG02451.hp1 HG06807.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0014 a0001c0001t0007 a0001c0001t0014	a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0009 others(2): Show a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0009 a0001c0001t0007g0010 a0001c0001t0014g0099	5	310	0.0161	-40	c.-66 others(59): Show c.-66-21015_-66-20976delAAGAGGCGCTCCTCACTTCCTAGATG GGATGGCGGCCGGG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	4/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21023934	CCTCTGCC others(33): Show CCTCTGCCCGGCCACGACCCCATCTGGGAGGTGAGGAGCGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(101): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00639.hp1 HG00639.hp2 HG01070.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02155.hp2 HG02258.hp1 HG02300.hp1 HG02486.hp1 HG02602.hp1 HG02647.hp1 HG02683.hp1 HG02809.hp2 HG02886.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 NA18906.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18949.hp1 NA18960.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18975.hp2 NA18979.hp1 NA18982.hp1 NA18987.hp2 NA18988.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19065.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19084.hp2 NA19085.hp2 NA19089.hp2 NA19091.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0009 a0002c0003 others(2): Show a0001c0001 a0001c0009 a0002c0003 a0004c0006 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0009t0002 a0002c0003t0001 a0004c0006t0001 a0007c0012t0002	a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 others(101): Show a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0227 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0005g0294 a0001c0001t0010g0214 a0001c0001t0010g0228 a0001c0001t0011g0274 a0001c0001t0011g0276 a0001c0001t0011g0277 a0001c0001t0013g0004 a0001c0001t0013g0005 a0001c0001t0017g0031 a0001c0001t0018g0051 a0001c0001t0019g0074 a0001c0001t0020g0209 a0001c0001t0021g0275 a0001c0001t0023g0299 a0001c0009t0002g0073 a0002c0003t0001g0202 a0002c0003t0001g0203 a0002c0003t0001g0204 a0004c0006t0001g0100 a0004c0006t0001g0101 a0007c0012t0002g0044	104	310	0.3355	-40	c.-66 others(59): Show c.-66-21166_-66-21127delACGCTCCTCACCTCCCAGATGGGGTC GTGGCCGGGCAGAG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	4/36			chr1	TogoVar
EIPR1_chr2_3183970_3382818	3246995	AGCGAGGG others(33): Show AGCGAGGGAGGAGAGAGCGAGGGAGGGAGAGAGCGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp2 HG01192.hp1 others(14): Show HG00140.hp2 HG01074.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01496.hp1 HG02273.hp2 HG02886.hp1 HG03453.hp2 HG03516.hp2 HG03704.hp2 NA18945.hp1 NA18952.hp2 NA18971.hp1 NA18995.hp1 NA19004.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0035 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0219 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085	17	247	0.0688	-40	c.416 others(59): Show c.416+10264_416+10303delCTCCCTCGCTCTCTCCCTCCCTCGCT CTCTCCTCCCTCGC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
ELAPOR1_chr1_109109115_109211781	109177474	ACGCTCCT others(33): Show ACGCTCCTCACTTCCCAGATGGGATGGCGGCCGGGAAGAGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG01891.hp1 others(1): Show HG01109.hp1 HG01884.hp1 HG01891.hp1 HG02976.hp1	a0002 a0003 a0002 a0003	a0002c0006 a0003c0004 a0003c0007 a0002c0006 a0003c0004 a0003c0007	a0002c0006t0001 a0003c0004t0004 a0003c0007t0004 a0002c0006t0001 a0003c0004t0004 a0003c0007t0004	a0002c0006t0001g0009 a0003c0004t0004g0068 a0003c0004t0004g0071 others(1): Show a0002c0006t0001g0009 a0003c0004t0004g0068 a0003c0004t0004g0071 a0003c0007t0004g0209	4	228	0.0175	-40	c.952 others(57): Show c.952+3656_952+3695delTGGGATGGCGGCCGGGAAGAGGCGCTCC TCACTTCCCAGA	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELL_chr19_18437663_18527070	18509598	TACACACA others(33): Show TACACACACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA19060.hp2 NA19067.hp1 others(2): Show NA18975.hp1 NA19060.hp2 NA19067.hp1 NA19080.hp1 NA19090.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0002 a0006c0009t0002 a0001c0001t0002 a0006c0009t0002	a0001c0001t0002g0001 a0001c0001t0002g0050 a0001c0001t0002g0108 others(1): Show a0001c0001t0002g0001 a0001c0001t0002g0050 a0001c0001t0002g0108 a0006c0009t0002g0069	5	146	0.0342	-40	c.135 others(59): Show c.135+12283_135+12322delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELOVL5_chr6_53262404_53353950	53306217	GGGGAGAG others(33): Show GGGGAGAGGGGAGAGGGGAGAGGGAGAGGGGAGAGGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA19086.hp1 HG01123.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0190 a0001c0001t0001g0123 a0001c0001t0001g0190	2	316	0.0063	-40	c.-8- others(57): Show c.-8-10550_-8-10511delTCTCCCCTCTCCCCTCTCCCTCTCCCCT CTCCCCTCTCCC	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL5_chr6_53262404_53353950	53306306	GGGGAGAG others(33): Show GGGGAGAGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGA	G G	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0121	1	314	0.0032	-40	c.-8- others(57): Show c.-8-10639_-8-10600delTCTCCCCTCTCCCCTCTCCCCTCTCCCC TCTCCCTCTCCC	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL7_chr5_60746791_60849269	60802083	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	157	0.0064	-40	c.-85 others(57): Show c.-85-2893_-85-2854delGTGTGTATATATATATATATATATATAT ATATATATATAT	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELOVL7_chr5_60746791_60849269	60802085	TATATATA others(33): Show TATATATATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02615.hp2 HG02970.hp2 others(1): Show HG02056.hp2 HG02615.hp2 HG02970.hp2 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0108 a0001c0001t0004g0074 a0001c0001t0006g0072 others(1): Show a0001c0001t0001g0108 a0001c0001t0004g0074 a0001c0001t0006g0072 a0001c0001t0006g0073	4	256	0.0156	-40	c.-85 others(57): Show c.-85-2895_-85-2856delGTGTGTGTATATATATATATATATATAT ATATATATATAT	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELOVL7_chr5_60746791_60849269	60819094	GGGAGGGG others(33): Show GGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01358.hp1 HG01496.hp1 others(2): Show HG01192.hp2 HG01358.hp1 HG01496.hp1 HG01981.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0016 a0001c0001t0005 a0001c0001t0007 a0001c0001t0016	a0001c0001t0005g0020 a0001c0001t0007g0031 a0001c0001t0007g0034 others(2): Show a0001c0001t0005g0020 a0001c0001t0007g0031 a0001c0001t0007g0034 a0001c0001t0007g0036 a0001c0001t0016g0030	5	247	0.0202	-40	c.-85 others(59): Show c.-85-19904_-85-19865delTCTCCTCTCCTCTCCTCTCCTCTCCT CTCCTCTCCCCTCC	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELSPBP1_chr19_47989632_48030154	48016456	TTTTCTTT others(33): Show TTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18522.hp1 HG03195.hp1 NA18522.hp1	a0002 a0013 a0002 a0013	a0002c0002 a0013c0016 a0002c0002 a0013c0016	a0002c0002t0003 a0013c0016t0002 a0002c0002t0003 a0013c0016t0002	a0002c0002t0003g0099 a0013c0016t0002g0139 a0002c0002t0003g0099 a0013c0016t0002g0139	2	159	0.0126	-40	c.355 others(55): Show c.355+426_355+465delCTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016503	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0016 a0011c0012t0001g0016	1	382	0.0026	-40	c.355 others(55): Show c.355+468_355+507delTCTTTCTTTCTTTCTTTCTTTCTTCCTTCC TTCCTTCCTT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016507	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02615.hp1 NA20805.hp2 HG02015.hp2 HG02615.hp1 NA20805.hp2	a0001 a0003 a0017 a0001 a0003 a0017	a0001c0001 a0003c0003 a0017c0019 a0001c0001 a0003c0003 a0017c0019	a0001c0001t0001 a0003c0003t0001 a0017c0019t0001 a0001c0001t0001 a0003c0003t0001 a0017c0019t0001	a0001c0001t0001g0295 a0003c0003t0001g0081 a0017c0019t0001g0280 a0001c0001t0001g0295 a0003c0003t0001g0081 a0017c0019t0001g0280	3	375	0.0080	-40	c.355 others(55): Show c.355+472_355+511delTCTTTCTTTCTTTCTTTCTTCCTTCCTTCC TTCCTTCCTT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
EMC10_chr19_50471507_50495871	50489033	GAAGGAGG others(33): Show GAAGGAGGGTAGGAGAGGGCTGGAGATAGGGGAAAAGAGAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02559.hp2 others(5): Show HG02109.hp2 HG02257.hp2 HG02559.hp2 HG02895.hp1 HG02896.hp1 HG03225.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0145 a0001c0002t0074 a0001c0002t0089 others(5): Show a0001c0001t0145 a0001c0002t0074 a0001c0002t0089 a0001c0002t0090 a0001c0002t0091 a0001c0002t0097 a0001c0002t0101 a0001c0002t0116	a0001c0001t0145g0013 a0001c0002t0074g0027 a0001c0002t0089g0043 others(5): Show a0001c0001t0145g0013 a0001c0002t0074g0027 a0001c0002t0089g0043 a0001c0002t0090g0010 a0001c0002t0091g0010 a0001c0002t0097g0010 a0001c0002t0101g0010 a0001c0002t0116g0029	8	349	0.0229	-40	c.68 others(51): Show c.6800_*6839delTAGGGGAAAAGAGAAAAGGAGGGTAGGAGAGGGC TGGAGA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding	7/7	6800	INFO_REALIGN_3_PRIME	chr19	TogoVar
EML6_chr2_54718662_54977025	54907930	AGATAGAT others(33): Show AGATAGATAGATAGATAAGATAGATAGATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0153 a0001c0003t0002g0153	1	223	0.0045	-40	c.341 others(59): Show c.3410-3023_3410-2984delGATAGATAGATAGATAAGATAGATAG ATAGATAGATAGAT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	24/41			chr2	TogoVar
EMP3_chr19_48320552_48335553	48334416	CTCTTTCT others(33): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02486.hp2 HG02559.hp2 others(4): Show HG01884.hp1 HG02486.hp2 HG02559.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0011 a0001c0001t0003g0042 a0001c0001t0003g0044	7	220	0.0318	-40	c.39 others(51): Show c.3947_*3986delTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	EMP3	ENSG00000142227.11	transcript	ENST00000270221.11	protein_coding		3864		chr19	TogoVar
EMSY_chr11_76440018_76558031	76494649	CCCTTCCT others(33): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03453.hp2 HG03927.hp2 others(1): Show HG02258.hp1 HG03453.hp2 HG03927.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0192 a0001c0001t0003g0285 a0001c0001t0014g0286 others(1): Show a0001c0001t0003g0192 a0001c0001t0003g0285 a0001c0001t0014g0286 a0001c0001t0014g0287	4	106	0.0377	-40	c.115 others(59): Show c.1154-1517_1154-1478delCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTT	EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ENOSF1_chr18_665318_717630	667435	GTGATGGT others(33): Show GTGATGGTGATGGTGATGGTGATGATGGAGATGGTGATGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG03209.hp2 HG02109.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0046 a0001c0001t0011g0110 a0001c0001t0011g0046 a0001c0001t0011g0110	2	415	0.0048	-40	c.68 others(51): Show c.6830_*6869delACCATCACCATCTCCATCATCACCATCACCATCA CCATCA	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2882		chr18	TogoVar
ENOSF1_chr18_665318_717630	667441	GTGATGGT others(33): Show GTGATGGTGATGGTGATGATGGAGATGGTGATGGTGATGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0063 a0001c0001t0011g0063	1	414	0.0024	-40	c.68 others(51): Show c.6824_*6863delACCATCACCATCACCATCTCCATCATCACCATCA CCATCA	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2876		chr18	TogoVar

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