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
ELOVL2_chr6_10975759_11049305	11043467	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18989.hp2 NA19056.hp1 HG03942.hp2 NA18989.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116	3	380	0.0079	22	c.3+7 others(33): Show c.3+760_3+761insGTGTGTGTGTGTGTGTGTGTGT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110084563	G G	GATATATA others(15): Show GATATATATTTATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01981.hp1 HG02300.hp2 others(5): Show HG01168.hp2 HG01981.hp1 HG02300.hp2 NA18941.hp2 NA18949.hp1 NA18954.hp1 NA18969.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0001t0055 a0001c0001t0062	a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0002g0064 others(5): Show a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0002g0064 a0001c0001t0002g0295 a0001c0001t0019g0229 a0001c0001t0019g0328 a0001c0001t0055g0063 a0001c0001t0062g0116	8	338	0.0237	22	c.221 others(41): Show c.221+20933_221+20934insATATATATATATAAATATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	338	0.0030	22	c.90- others(39): Show c.90-12276_90-12275insATATATATATATTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0110 a0001c0001t0082g0110	1	338	0.0030	22	c.90- others(39): Show c.90-12276_90-12275insATATATATATATATATATTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0222 a0001c0001t0006g0222	1	338	0.0030	22	c.90- others(39): Show c.90-12297_90-12276dupATATATATATATATATATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117924	A A	ATATATAT others(15): Show ATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02074.hp1 HG02451.hp1 others(1): Show HG01891.hp2 HG02074.hp1 HG02451.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0061 a0001c0001t0001 a0001c0001t0007 a0001c0001t0061	a0001c0001t0001g0174 a0001c0001t0001g0239 a0001c0001t0007g0291 others(1): Show a0001c0001t0001g0174 a0001c0001t0001g0239 a0001c0001t0007g0291 a0001c0001t0061g0083	4	338	0.0118	22	c.90- others(39): Show c.90-12297_90-12296insGATATATATATATATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110158635	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0336 a0001c0001t0004g0336	1	338	0.0030	22	c.89+ others(39): Show c.89+39590_89+39611dupTATATATATATATATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110158657	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	338	0.0030	22	c.89+ others(39): Show c.89+39589_89+39590insAAAATATATATATATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL7_chr5_60746791_60849269	60795933	T T	TGCCGCCA others(15): Show TGCCGCCATCTTGGGAGCAGCCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	258	0.0039	22	c.-35 others(39): Show c.-35+3225_-35+3246dupGGGCTGCTCCCAAGATGGCGGC	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	2/8			chr5	TogoVar
ELP2_chr18_36124899_36185557	36163275	G G	GGGGGGGG others(15): Show GGGGGGGGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0258 a0001c0001t0011g0258	1	378	0.0027	22	c.176 others(41): Show c.1762-1199_1762-1198insGGGGGGTGTGTGTGTGTGTGTG	ELP2	ENSG00000134759.14	transcript	ENST00000358232.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr18	TogoVar
ELP4_chr11_31504767_31795324	31668675	C C	CATGTGTG others(15): Show CATGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01258.hp2 HG02738.hp1 others(2): Show HG00597.hp1 HG01258.hp2 HG02738.hp1 HG02818.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0042 others(1): Show a0001c0001t0002 a0001c0001t0021 a0001c0001t0042 a0001c0001t0048	a0001c0001t0002g0139 a0001c0001t0002g0166 a0001c0001t0021g0107 others(2): Show a0001c0001t0002g0139 a0001c0001t0002g0166 a0001c0001t0021g0107 a0001c0001t0042g0157 a0001c0001t0048g0215	5	270	0.0185	22	c.114 others(43): Show c.1143+18454_1143+18455insATGTGTGTGTGTGTGTGTGTGT	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9			chr11	TogoVar
ELP4_chr11_31504767_31795324	31668675	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0217 a0001c0001t0075g0217	1	270	0.0037	22	c.114 others(43): Show c.1143+18479_1143+18500dupGTGTGTGTGTGTGTGTGTGTGT	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31731567	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	270	0.0037	22	c.114 others(43): Show c.1144-51813_1144-51792dupGTGTGTGTGTGTGTGTGTGTGT	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP5_chr17_7247215_7264937	7262514	T T	TCGGGGGC others(15): Show TCGGGGGCGCGGCCCGCGCGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 NA18522.hp2 HG03017.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	412	0.0049	22	c.28 others(33): Show c.2829_*2830insCGGGGGCGCGGCCCGCGCGCCC	ELP5	ENSG00000170291.16	transcript	ENST00000396628.7	protein_coding		2578		chr17	TogoVar
ELSPBP1_chr19_47989632_48030154	48029798	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG03017.hp2 HG01175.hp1 HG03017.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0002 a0007c0008t0001 a0001c0001t0002 a0007c0008t0001	a0001c0001t0002g0223 a0007c0008t0001g0328 a0001c0001t0002g0223 a0007c0008t0001g0328	2	388	0.0052	22	c.48 others(33): Show c.4854_*4855insAGAGAGAGAGAGAGAGAGAGAG	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding		4645		chr19	TogoVar
EMB_chr5_50391192_50446288	50425735	T T	TTGCTCTG others(15): Show TTGCTCTGTCACCCAGGCTGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(219): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG01975.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18965.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18985.hp2 NA18989.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp2 NA19070.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0003 a0005c0009 a0006c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0002t0004 a0001c0002t0011 a0001c0004t0004 a0001c0007t0029 a0002c0003t0002 a0005c0009t0002 a0006c0005t0006	a0001c0001t0001g0007 a0001c0001t0001g0098 a0001c0001t0001g0117 others(185): Show a0001c0001t0001g0007 a0001c0001t0001g0098 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0176 a0001c0001t0001g0226 a0001c0001t0001g0264 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0126 a0001c0001t0003g0009 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0044 a0001c0001t0003g0115 a0001c0001t0003g0122 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0161 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0187 a0001c0001t0004g0010 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0056 a0001c0001t0004g0061 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0099 a0001c0001t0004g0113 a0001c0001t0004g0129 a0001c0001t0004g0160 a0001c0001t0005g0011 a0001c0001t0005g0016 a0001c0001t0005g0029 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0048 a0001c0001t0005g0065 a0001c0001t0005g0100 a0001c0001t0005g0101 a0001c0001t0005g0102 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0245 a0001c0001t0005g0246 a0001c0001t0005g0247 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0279 a0001c0001t0006g0021 a0001c0001t0006g0022 a0001c0001t0006g0116 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0158 a0001c0001t0006g0159 a0001c0001t0006g0175 a0001c0001t0007g0018 a0001c0001t0007g0088 a0001c0001t0007g0110 a0001c0001t0007g0123 a0001c0001t0007g0124 a0001c0001t0007g0125 a0001c0001t0007g0127 a0001c0001t0007g0165 a0001c0001t0007g0166 a0001c0001t0007g0167 a0001c0001t0007g0168 a0001c0001t0008g0023 a0001c0001t0008g0185 a0001c0001t0008g0186 a0001c0001t0008g0252 a0001c0001t0009g0051 a0001c0001t0009g0054 a0001c0001t0009g0071 a0001c0001t0009g0089 a0001c0001t0010g0057 a0001c0001t0010g0058 a0001c0001t0010g0059 a0001c0001t0012g0052 a0001c0001t0012g0053 a0001c0001t0013g0076 a0001c0001t0013g0132 a0001c0001t0014g0073 a0001c0001t0014g0079 a0001c0001t0016g0074 a0001c0001t0018g0119 a0001c0001t0020g0118 a0001c0001t0025g0142 a0001c0001t0026g0136 a0001c0001t0027g0064 a0001c0001t0028g0144 a0001c0002t0004g0031 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0284 a0001c0002t0004g0285 a0001c0002t0004g0286 a0001c0002t0004g0288 a0001c0002t0004g0289 a0001c0002t0004g0290 a0001c0002t0004g0291 a0001c0002t0004g0292 a0001c0002t0004g0293 a0001c0002t0011g0034 a0001c0002t0011g0287 a0001c0004t0004g0035 a0001c0007t0029g0283 a0002c0003t0002g0086 a0002c0003t0002g0087 a0005c0009t0002g0069 a0006c0005t0006g0037	222	346	0.6416	22	c.196 others(39): Show c.196+2408_196+2409insCTCCAGCCTGGGTGACAGAGCA	EMB	ENSG00000170571.12	transcript	ENST00000303221.10	protein_coding	2/8			chr5	TogoVar
EMC10_chr19_50471507_50495871	50492036	C C	CGGGGAGA others(15): Show CGGGGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0173 a0001c0001t0173	a0001c0001t0173g0001 a0001c0001t0173g0001	1	352	0.0028	22	c.97 others(33): Show c.9777_*9778insGGGGAGAGAGAGAGAGAGAGAG	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		1166		chr19	TogoVar
EMC2_chr8_108438624_108494196	108443351	A A	ACACACAC others(15): Show ACACACACACACACACCCACACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02572.hp2 others(2): Show HG02109.hp1 HG02145.hp1 HG02572.hp2 HG02895.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0258 a0001c0001t0001g0259 others(1): Show a0001c0001t0001g0041 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260	5	364	0.0137	22	c.-30 others(31): Show c.-308_-307insCACACACACACACACCCACACC	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding		272		chr8	TogoVar
EMC2_chr8_108438624_108494196	108462213	T T	TTGTGTGC others(15): Show TTGTGTGCGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03831.hp2 HG03491.hp2 HG03492.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0017 a0001c0001t0012g0054 a0001c0001t0012g0017 a0001c0001t0012g0054	3	364	0.0082	22	c.363 others(39): Show c.363+6300_363+6301insGTGTGTGTGTGCGTGTGTGTGT	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
EMC3_chr3_9957682_9991841	9963456	T T	TAGATAGA others(15): Show TAGATAGATAGATATAGATATAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00639.hp1 HG02004.hp1 others(7): Show HG00408.hp1 HG00639.hp1 HG02004.hp1 HG02451.hp1 HG02602.hp2 HG02717.hp1 NA18522.hp2 NA18948.hp2 NA18991.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0025 a0001c0001t0036 others(2): Show a0001c0001t0021 a0001c0001t0025 a0001c0001t0036 a0001c0001t0056 a0001c0001t0068	a0001c0001t0021g0025 a0001c0001t0021g0029 a0001c0001t0021g0050 others(7): Show a0001c0001t0021g0025 a0001c0001t0021g0029 a0001c0001t0021g0050 a0001c0001t0021g0064 a0001c0001t0025g0024 a0001c0001t0025g0048 a0001c0001t0025g0071 a0001c0001t0036g0039 a0001c0001t0056g0034 a0001c0001t0068g0292	10	322	0.0311	22	c.61 others(31): Show c.612_*613insCTATATCTATATCTATCTATCT	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	8/8	612		chr3	TogoVar
EMC3_chr3_9957682_9991841	9978145	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	322	0.0031	22	c.156 others(37): Show c.156-721_156-700dupTTTTTTTTTTTTTTTTTTTTTT	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	1/7			chr3	TogoVar
EMC7_chr15_34079017_34106862	34092261	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02559.hp1 others(1): Show HG01884.hp2 HG02109.hp2 HG02559.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0019 a0001c0001t0001g0066 a0001c0001t0001g0070	4	410	0.0098	22	c.357 others(39): Show c.357-1828_357-1807dupTGTGTGTGTGTGTGTGTGTGTG	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(15): Show CACACACACACACACACACATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01943.hp2 HG02027.hp1 others(10): Show HG01168.hp1 HG01943.hp2 HG02027.hp1 HG02071.hp2 HG02145.hp1 HG02965.hp1 HG03471.hp2 HG03516.hp1 HG04199.hp2 NA18747.hp1 NA18948.hp1 NA18979.hp1 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0278 a0001c0001t0001g0279 others(6): Show a0001c0001t0001g0005 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0305 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0315	13	410	0.0317	22	c.356 others(39): Show c.356+2088_356+2089insATATGTGTGTGTGTGTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(15): Show CACACACACACACACACATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02572.hp2 others(7): Show HG01891.hp2 HG02109.hp1 HG02572.hp2 HG03453.hp1 HG04204.hp1 NA18942.hp1 NA18946.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0044 a0001c0001t0001g0168 a0001c0001t0001g0169 others(6): Show a0001c0001t0001g0044 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0271 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0301 a0001c0001t0003g0267 a0001c0002t0001g0047	10	410	0.0244	22	c.356 others(39): Show c.356+2088_356+2089insATATATGTGTGTGTGTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(15): Show CACACACACACACACATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02132.hp2 others(2): Show HG01070.hp2 HG01071.hp2 HG02132.hp2 NA18988.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0134 a0001c0001t0001g0175 others(1): Show a0001c0001t0001g0040 a0001c0001t0001g0134 a0001c0001t0001g0175 a0001c0001t0001g0321	5	410	0.0122	22	c.356 others(39): Show c.356+2088_356+2089insATATATATGTGTGTGTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(15): Show CACACACACACACATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01358.hp1 HG01361.hp1 others(7): Show HG01070.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG04204.hp2 NA19059.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0085 a0001c0001t0001g0125 others(6): Show a0001c0001t0001g0023 a0001c0001t0001g0085 a0001c0001t0001g0125 a0001c0001t0001g0141 a0001c0001t0001g0154 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0192	10	410	0.0244	22	c.356 others(39): Show c.356+2088_356+2089insATATATATATGTGTGTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(15): Show CACACACACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01106.hp1 HG01261.hp1 others(9): Show HG00558.hp2 HG01106.hp1 HG01261.hp1 HG01346.hp1 HG01516.hp1 NA18969.hp2 NA18994.hp2 NA19002.hp2 NA19012.hp1 NA19068.hp1 NA19078.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0080 a0001c0001t0001g0081 others(8): Show a0001c0001t0001g0020 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0093 a0001c0001t0001g0113 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0193 a0001c0001t0001g0325	12	410	0.0293	22	c.356 others(39): Show c.356+2088_356+2089insATATATATATATGTGTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC8_chr16_85773624_85804544	85775442	T T	TACACACA others(15): Show TACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0215 a0001c0003t0012g0215	1	408	0.0025	22	c.42 others(33): Show c.4244_*4265dupGTGTGTGTGTGTGTGTGTGTGT	EMC8	ENSG00000131148.9	transcript	ENST00000253457.8	protein_coding		3181		chr16	TogoVar
EMC9_chr14_24133965_24146591	24135105	A A	AACACACA others(15): Show AACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01070.hp2 others(2): Show HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01358.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0002g0004 a0001c0001t0001g0003 a0001c0001t0002g0004	5	422	0.0119	22	c.39 others(33): Show c.3904_*3905insGTGTGTGTGTGTGTGTGTGTGT	EMC9	ENSG00000100908.14	transcript	ENST00000216799.9	protein_coding		3859		chr14	TogoVar
EMILIN2_chr18_2842006_2921003	2858553	A A	ATATATAT others(15): Show ATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0075 a0001c0001t0019g0075	1	452	0.0022	22	c.257 others(41): Show c.257+10631_257+10632insGTGTGTGTGTGTGTATATATAT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2858569	A A	ATATATAT others(15): Show ATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	452	0.0022	22	c.257 others(41): Show c.257+10639_257+10640insATATATATATATATATGTGTGT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2858569	A A	ATATATAT others(15): Show ATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0385 a0001c0002t0024g0385	1	452	0.0022	22	c.257 others(41): Show c.257+10639_257+10640insATATATATATATATGTGTGTGT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2858583	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	452	0.0022	22	c.257 others(41): Show c.257+10653_257+10654insGTGTGTGTGTGTATATATATAT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2858583	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0068 a0001c0016t0068	a0001c0016t0068g0058 a0001c0016t0068g0058	1	452	0.0022	22	c.257 others(41): Show c.257+10653_257+10654insGTGTGTGTGTGTGTGTGTATAT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EML1_chr14_99788413_99947060	99796186	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA19066.hp1 NA18963.hp2 NA19066.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0002 a0002c0001 a0003c0002	a0002c0001t0003 a0003c0002t0001 a0002c0001t0003 a0003c0002t0001	a0002c0001t0003g0147 a0003c0002t0001g0146 a0002c0001t0003g0147 a0003c0002t0001g0146	2	288	0.0069	22	c.67+ others(37): Show c.67+2667_67+2688dupGAGAGAGAGAGAGAGAGAGAGA	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99826105	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0083 a0002c0001t0002g0083	1	288	0.0035	22	c.68- others(39): Show c.68-24744_68-24723dupTTTTTTTTTTTTTTTTTTTTTT	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99838918	C C	CGCGCGCG others(15): Show CGCGCGCGCGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0221 a0001c0003t0001g0221	1	288	0.0035	22	c.68- others(39): Show c.68-11934_68-11933insCGCGCGCGTGTGTGTGTGTGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99838918	C C	CGCGCGCG others(15): Show CGCGCGCGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02109.hp2 NA18956.hp2 others(2): Show HG00735.hp1 HG02109.hp2 NA18956.hp2 NA19091.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0002 a0002c0001t0019 a0001c0003t0001 a0002c0001t0002 a0002c0001t0019	a0001c0003t0001g0232 a0002c0001t0002g0031 a0002c0001t0002g0065 others(2): Show a0001c0003t0001g0232 a0002c0001t0002g0031 a0002c0001t0002g0065 a0002c0001t0002g0165 a0002c0001t0019g0234	5	288	0.0174	22	c.68- others(39): Show c.68-11934_68-11933insCGCGCGTGTGTGTGTGTGTGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99838918	C C	CGCGCGTG others(15): Show CGCGCGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG01074.hp2 others(19): Show HG00558.hp1 HG00621.hp1 HG01074.hp2 HG01928.hp1 HG01975.hp2 HG02293.hp1 HG02698.hp1 HG03239.hp2 NA18951.hp2 NA18954.hp1 NA18960.hp1 NA18961.hp1 NA18963.hp2 NA18969.hp1 NA18984.hp1 NA19002.hp1 NA19009.hp2 NA19063.hp1 NA19064.hp1 NA19086.hp2 NA19091.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003	a0002c0001t0001g0267 a0002c0001t0002g0025 a0002c0001t0002g0046 others(19): Show a0002c0001t0001g0267 a0002c0001t0002g0025 a0002c0001t0002g0046 a0002c0001t0002g0051 a0002c0001t0002g0058 a0002c0001t0002g0061 a0002c0001t0002g0063 a0002c0001t0002g0068 a0002c0001t0002g0073 a0002c0001t0002g0093 a0002c0001t0002g0099 a0002c0001t0002g0133 a0002c0001t0002g0136 a0002c0001t0002g0144 a0002c0001t0002g0160 a0002c0001t0002g0175 a0002c0001t0002g0176 a0002c0001t0002g0177 a0002c0001t0002g0178 a0002c0001t0002g0179 a0002c0001t0003g0098 a0002c0001t0003g0147	22	288	0.0764	22	c.68- others(39): Show c.68-11934_68-11933insCGCGTGTGTGTGTGTGTGTGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99838918	C C	CGCGTGTG others(15): Show CGCGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0276 a0002c0001t0002g0276	1	288	0.0035	22	c.68- others(39): Show c.68-11934_68-11933insCGTGTGTGTGTGTGTGTGTGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML4_chr2_42164353_42337548	42245094	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18950.hp1 NA18967.hp1 others(1): Show HG02602.hp1 NA18950.hp1 NA18967.hp1 NA19055.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0006 a0003c0003t0004 a0001c0001t0002 a0001c0001t0006 a0003c0003t0004	a0001c0001t0002g0201 a0001c0001t0006g0193 a0003c0003t0004g0212 others(1): Show a0001c0001t0002g0201 a0001c0001t0006g0193 a0003c0003t0004g0212 a0003c0003t0004g0271	4	358	0.0112	22	c.26- others(35): Show c.26-393_26-392insTTTTTTTTTTTTTTTTTTTTTT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42306484	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA19011.hp2 HG02155.hp1 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0009 a0002c0002t0001 a0002c0002t0009	a0002c0002t0001g0052 a0002c0002t0009g0073 a0002c0002t0001g0052 a0002c0002t0009g0073	2	358	0.0056	22	c.196 others(41): Show c.1967+1938_1967+1959dupTTTTTTTTTTTTTTTTTTTTTT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42325596	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0086 a0005c0006t0001g0086	1	358	0.0028	22	c.224 others(37): Show c.2242+47_2242+48insATATATATATATATATATATAT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42325602	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01952.hp1 HG02717.hp1 others(3): Show HG01891.hp1 HG01952.hp1 HG02717.hp1 HG03688.hp1 HG04199.hp2 NA19067.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0006 a0003c0003t0002 others(1): Show a0001c0001t0002 a0001c0001t0006 a0003c0003t0002 a0003c0003t0004	a0001c0001t0002g0280 a0001c0001t0006g0290 a0003c0003t0002g0277 others(3): Show a0001c0001t0002g0280 a0001c0001t0006g0290 a0003c0003t0002g0277 a0003c0003t0002g0295 a0003c0003t0004g0250 a0003c0003t0004g0302	6	358	0.0168	22	c.224 others(37): Show c.2242+64_2242+85dupATATATATATATATATATATAT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML5_chr14_88607431_88797953	88745167	T T	TTGTTTGT others(15): Show TTGTTTGTTTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01884.hp2 HG02280.hp1 others(1): Show HG01256.hp2 HG01884.hp2 HG02280.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0022 others(1): Show a0001c0001t0006 a0001c0001t0011 a0001c0001t0022 a0001c0001t0024	a0001c0001t0006g0286 a0001c0001t0011g0214 a0001c0001t0022g0203 others(1): Show a0001c0001t0006g0286 a0001c0001t0011g0214 a0001c0001t0022g0203 a0001c0001t0024g0206	4	332	0.0121	22	c.456 others(39): Show c.456+1017_456+1018insCACACACACACACAAACAAACA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding	3/43			chr14	TogoVar
EML6_chr2_54718662_54977025	54797167	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG01070.hp2 others(18): Show HG00323.hp2 HG00741.hp2 HG01070.hp2 HG01257.hp2 HG01433.hp1 HG01496.hp1 HG01517.hp1 HG01952.hp1 HG02486.hp2 HG02683.hp1 HG02698.hp1 HG02970.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 NA18945.hp1 NA18957.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0003c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0055 a0001c0002t0006 a0001c0003t0001 a0001c0003t0002 a0001c0003t0009 a0001c0004t0001 a0003c0013t0005	a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0004g0259 others(18): Show a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0004g0259 a0001c0001t0005g0070 a0001c0001t0005g0241 a0001c0001t0007g0238 a0001c0001t0007g0239 a0001c0001t0055g0251 a0001c0002t0006g0077 a0001c0003t0001g0252 a0001c0003t0002g0204 a0001c0003t0002g0240 a0001c0003t0002g0253 a0001c0003t0002g0254 a0001c0003t0002g0255 a0001c0003t0002g0256 a0001c0003t0002g0257 a0001c0003t0009g0107 a0001c0004t0001g0081 a0003c0013t0005g0035 a0003c0013t0005g0036	21	264	0.0796	22	c.198 others(41): Show c.198-16044_198-16043insCAAAAAAAAAAAAAAAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54797167	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAACAAC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18954.hp2 NA18966.hp2 others(1): Show NA18952.hp1 NA18954.hp2 NA18966.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0036 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0036 a0001c0003t0035	a0001c0001t0001g0190 a0001c0001t0002g0189 a0001c0001t0036g0174 others(1): Show a0001c0001t0001g0190 a0001c0001t0002g0189 a0001c0001t0036g0174 a0001c0003t0035g0173	4	264	0.0152	22	c.198 others(41): Show c.198-16047_198-16046insCAACAAAAAAAAAAAAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54797167	A A	AAAAAAAA others(15): Show AAAAAAAACAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0033 a0001c0001t0005g0033	1	264	0.0038	22	c.198 others(41): Show c.198-16058_198-16057insCAAAAAAAAAAAAACAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54797168	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp1 HG02738.hp2 others(1): Show HG02257.hp2 HG02630.hp1 HG02738.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0029 a0001c0002 a0001c0006 a0002c0029	a0001c0002t0001 a0001c0002t0006 a0001c0006t0018 others(1): Show a0001c0002t0001 a0001c0002t0006 a0001c0006t0018 a0002c0029t0012	a0001c0002t0001g0234 a0001c0002t0006g0263 a0001c0006t0018g0039 others(1): Show a0001c0002t0001g0234 a0001c0002t0006g0263 a0001c0006t0018g0039 a0002c0029t0012g0232	4	264	0.0152	22	c.198 others(41): Show c.198-16063_198-16042dupAAAAAAAAAAAAAAAAAAAAAC	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54806612	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0184 a0001c0001t0028g0184	1	264	0.0038	22	c.198 others(39): Show c.198-6609_198-6588dupAAAAAAAAAAAAAAAAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar

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