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
ECH1_chr19_38810422_38836794	38811490	ATAAAAAT ATAAAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG01070.hp1 others(12): Show HG00099.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01175.hp1 HG01192.hp1 HG01433.hp2 HG02602.hp1 HG02698.hp1 HG02738.hp1 HG03490.hp1 HG03669.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0024 a0001c0003t0001g0045 a0001c0003t0001g0046 others(8): Show a0001c0003t0001g0024 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0173 a0001c0003t0001g0174 a0001c0003t0001g0175 a0001c0003t0001g0177 a0001c0003t0001g0186 a0001c0003t0003g0063 a0001c0003t0003g0064 a0001c0003t0003g0065	15	418	0.0359	-7	c.41 others(18): Show c.4116_*4122delATTTTTA	ECH1	ENSG00000104823.9	transcript	ENST00000221418.9	protein_coding		3931		chr19	TogoVar
ECHDC1_chr6_127283712_127348609	127311697	AAGAAAAG AAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00673.hp2 others(46): Show HG00423.hp1 HG00438.hp1 HG00673.hp2 HG01099.hp2 HG01255.hp2 HG01346.hp1 HG01433.hp2 HG01943.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02071.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG03834.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp2 NA18963.hp1 NA18967.hp1 NA18972.hp2 NA18989.hp2 NA18991.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19057.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp1 NA19078.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0001 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0011 others(31): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0004g0008 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0007g0166	49	356	0.1376	-7	c.497 others(24): Show c.497+3112_497+3118delCTTTTCT	ECHDC1	ENSG00000093144.19	transcript	ENST00000454859.8	protein_coding	5/5			chr6	TogoVar
ECHDC2_chr1_52890910_52926740	52910352	GTTTTTTT GTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02055.hp2 others(12): Show HG01884.hp1 HG01891.hp1 HG02055.hp2 HG02109.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG03516.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0123 others(6): Show a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0123 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0132 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136	15	30	0.5000	-7	c.277 others(24): Show c.277+1207_277+1213delAAAAAAA	ECHDC2	ENSG00000121310.17	transcript	ENST00000371522.9	protein_coding	3/9			chr1	TogoVar
ECHDC2_chr1_52890910_52926740	52925807	CTTTTTTT CTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02109.hp2 others(10): Show HG01884.hp1 HG02055.hp2 HG02109.hp2 HG02572.hp2 HG02622.hp1 HG02897.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 NA18906.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0004 a0002c0003t0001 a0003c0004t0001 a0001c0001t0004 a0002c0003t0001 a0003c0004t0001	a0001c0001t0004g0011 a0001c0001t0004g0133 a0001c0001t0004g0134 others(6): Show a0001c0001t0004g0011 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 a0002c0003t0001g0036 a0002c0003t0001g0126 a0003c0004t0001g0124 a0003c0004t0001g0125	13	244	0.0533	-7	c.-41 others(18): Show c.-4141_-4135delAAAAAAA	ECHDC2	ENSG00000121310.17	transcript	ENST00000371522.9	protein_coding		4068		chr1	TogoVar
ECI2_chr6_4110706_4140575	4131875	CAAAAGAA CAAAAGAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00438.hp1 others(153): Show HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp2 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG04184.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp2 NA18966.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19010.hp2 NA19030.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19080.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA21309.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0009 a0010	a0001c0001 a0001c0004 a0001c0005 others(8): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0012 a0002c0002 a0004c0007 a0005c0008 a0006c0009 a0009c0010 a0010c0011	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(10): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0002 a0001c0006t0005 a0001c0012t0001 a0002c0002t0001 a0004c0007t0001 a0005c0008t0001 a0006c0009t0001 a0006c0009t0002 a0009c0010t0001 a0010c0011t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0022 others(56): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0004t0001g0013 a0001c0004t0001g0014 a0001c0004t0001g0075 a0001c0004t0001g0076 a0001c0005t0001g0011 a0001c0005t0001g0073 a0001c0005t0001g0074 a0001c0006t0002g0041 a0001c0006t0005g0040 a0001c0012t0001g0077 a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0012 a0002c0002t0001g0019 a0002c0002t0001g0021 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0069 a0002c0002t0001g0072 a0002c0002t0001g0124 a0004c0007t0001g0020 a0004c0007t0001g0046 a0005c0008t0001g0026 a0005c0008t0001g0042 a0006c0009t0001g0068 a0006c0009t0002g0039 a0009c0010t0001g0071 a0010c0011t0001g0050	156	368	0.4239	-7	c.214 others(24): Show c.214-1017_214-1011delTTCTTTT	ECI2	ENSG00000198721.13	transcript	ENST00000380118.8	protein_coding	2/9			chr6	TogoVar
ECM2_chr9_92490315_92540990	92528614	CCACCAGT CCACCAGT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01358.hp1 HG02300.hp2 others(4): Show HG00642.hp1 HG01358.hp1 HG02300.hp2 HG03490.hp2 HG03492.hp1 HG04115.hp1 NA19043.hp1	a0001 a0009 a0001 a0009	a0001c0006 a0009c0021 a0001c0006 a0009c0021	a0001c0006t0001 a0009c0021t0006 a0001c0006t0001 a0009c0021t0006	a0001c0006t0001g0027 a0001c0006t0001g0028 a0001c0006t0001g0071 others(2): Show a0001c0006t0001g0027 a0001c0006t0001g0028 a0001c0006t0001g0071 a0001c0006t0001g0072 a0009c0021t0006g0073	7	398	0.0176	-7	c.-27 others(24): Show c.-27-5728_-27-5722delACTGGTG	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533329	ATATATAT ATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02027.hp1 HG02602.hp2 others(7): Show HG00408.hp1 HG02027.hp1 HG02602.hp2 HG03209.hp2 NA18966.hp1 NA18975.hp1 NA18995.hp1 NA18997.hp1 NA19002.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0025 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0046 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0226	10	388	0.0258	-7	c.-28 others(24): Show c.-28+2597_-28+2603delATATATA	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111435846	ATTTTTTT ATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG01516.hp1 others(17): Show HG00408.hp1 HG00609.hp2 HG01516.hp1 HG02040.hp1 HG02074.hp1 HG02132.hp2 HG02165.hp2 HG02523.hp1 HG02735.hp2 HG03927.hp1 NA18612.hp1 NA18944.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp2 NA18974.hp1 NA18998.hp2 NA19058.hp2 NA19080.hp2 NA19082.hp2	a0002 a0002	a0002c0004 a0002c0010 a0002c0015 a0002c0004 a0002c0010 a0002c0015	a0002c0004t0001 a0002c0010t0001 a0002c0015t0001 a0002c0004t0001 a0002c0010t0001 a0002c0015t0001	a0002c0004t0001g0303 a0002c0004t0001g0304 a0002c0004t0001g0305 others(17): Show a0002c0004t0001g0303 a0002c0004t0001g0304 a0002c0004t0001g0305 a0002c0004t0001g0308 a0002c0004t0001g0309 a0002c0004t0001g0310 a0002c0004t0001g0311 a0002c0004t0001g0312 a0002c0004t0001g0317 a0002c0004t0001g0319 a0002c0004t0001g0320 a0002c0004t0001g0321 a0002c0004t0001g0322 a0002c0004t0001g0323 a0002c0004t0001g0324 a0002c0004t0001g0325 a0002c0004t0001g0331 a0002c0004t0001g0332 a0002c0010t0001g0313 a0002c0015t0001g0329	20	268	0.0746	-7	c.708 others(24): Show c.708+1087_708+1093delAAAAAAA	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	7/49			chr9	TogoVar
ECRG4_chr2_106060688_106083155	106071322	TAAAAAAA TAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02630.hp2 HG06807.hp1 others(3): Show HG02280.hp1 HG02630.hp2 HG06807.hp1 NA18943.hp2 NA18966.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0192 a0001c0001t0001g0200 a0001c0001t0001g0291 others(3): Show a0001c0001t0001g0192 a0001c0001t0001g0200 a0001c0001t0001g0291 a0001c0002t0001g0079 a0001c0002t0001g0107 a0001c0002t0001g0110	6	38	0.1579	-7	c.80- others(20): Show c.80-498_80-492delAAAAAAA	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECRG4_chr2_106060688_106083155	106074397	ATTAACTT ATTAACTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02976.hp1 HG03098.hp2 others(1): Show HG02258.hp2 HG02976.hp1 HG03098.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0166 a0001c0001t0001g0199 a0001c0001t0001g0205 others(1): Show a0001c0001t0001g0166 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0002t0001g0081	4	432	0.0093	-7	c.285 others(22): Show c.285+362_285+368delTTAACTT	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECSCR_chr5_139443560_139467743	139458500	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02559.hp2 others(12): Show HG02109.hp1 HG02145.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG06807.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0025 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0064	15	23	0.6522	-7	c.62- others(20): Show c.62-324_62-318delTTTTTTT	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding	1/9			chr5	TogoVar
ECT2L_chr6_138791087_138909070	138858697	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02895.hp1 HG02896.hp1 others(3): Show HG02630.hp1 HG02895.hp1 HG02896.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0007c0012 a0001c0001 a0007c0008 a0007c0012	a0001c0001t0004 a0007c0008t0014 a0007c0008t0021 others(1): Show a0001c0001t0004 a0007c0008t0014 a0007c0008t0021 a0007c0012t0003	a0001c0001t0004g0040 a0007c0008t0014g0013 a0007c0008t0014g0237 others(3): Show a0001c0001t0004g0040 a0007c0008t0014g0013 a0007c0008t0014g0237 a0007c0008t0021g0236 a0007c0012t0003g0238 a0007c0012t0003g0239	6	49	0.1224	-7	c.119 others(26): Show c.1199-3909_1199-3903delTTTTTTT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138867655	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00738.hp1 others(44): Show HG00280.hp2 HG00438.hp1 HG00738.hp1 HG00741.hp1 HG01106.hp2 HG01109.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01361.hp2 HG01515.hp2 HG01884.hp2 HG01943.hp2 HG01975.hp1 HG02015.hp2 HG02027.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02647.hp1 HG02683.hp2 HG02886.hp2 HG03098.hp2 HG03139.hp1 HG03490.hp2 HG03704.hp1 HG03831.hp2 HG04115.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18941.hp2 NA18957.hp1 NA18962.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18983.hp1 NA19004.hp2 NA19005.hp2 NA19056.hp2 NA19065.hp2	a0001 a0005 a0013 others(1): Show a0001 a0005 a0013 a0014	a0001c0001 a0001c0002 a0005c0005 others(3): Show a0001c0001 a0001c0002 a0005c0005 a0005c0019 a0013c0024 a0014c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0019 a0001c0002t0002 a0001c0002t0005 a0005c0005t0001 a0005c0019t0005 a0013c0024t0005 a0014c0021t0001	a0001c0001t0001g0079 a0001c0001t0001g0111 a0001c0001t0001g0114 others(44): Show a0001c0001t0001g0079 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0149 a0001c0001t0002g0015 a0001c0001t0002g0068 a0001c0001t0002g0296 a0001c0001t0004g0136 a0001c0001t0004g0157 a0001c0001t0004g0265 a0001c0001t0005g0277 a0001c0001t0005g0279 a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0285 a0001c0001t0005g0289 a0001c0001t0005g0294 a0001c0001t0006g0029 a0001c0001t0006g0224 a0001c0001t0006g0261 a0001c0001t0006g0286 a0001c0001t0007g0166 a0001c0001t0007g0233 a0001c0001t0007g0247 a0001c0001t0007g0288 a0001c0001t0008g0064 a0001c0001t0008g0118 a0001c0001t0008g0119 a0001c0001t0008g0120 a0001c0001t0008g0153 a0001c0001t0019g0091 a0001c0001t0019g0167 a0001c0002t0002g0043 a0001c0002t0002g0323 a0001c0002t0002g0326 a0001c0002t0005g0259 a0001c0002t0005g0267 a0001c0002t0005g0269 a0005c0005t0001g0300 a0005c0005t0001g0301 a0005c0005t0001g0302 a0005c0005t0001g0303 a0005c0005t0001g0317 a0005c0019t0005g0276 a0013c0024t0005g0268 a0014c0021t0001g0005	47	218	0.2156	-7	c.147 others(24): Show c.1475-431_1475-425delAAAAAAA	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
EDARADD_chr1_236389286_236489930	236437804	TGATCTCA TGATCTCA	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02055.hp1 HG02109.hp2 others(15): Show HG02015.hp2 HG02055.hp1 HG02109.hp2 HG02155.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02965.hp2 HG03453.hp2 HG03471.hp2 HG06807.hp1 HG06807.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0001t0004 a0001c0003t0004 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0002t0017 a0002c0002t0018 a0002c0002t0020 a0002c0002t0028 a0002c0007t0005	a0001c0001t0001g0124 a0001c0001t0001g0211 a0001c0001t0004g0122 others(15): Show a0001c0001t0001g0124 a0001c0001t0001g0211 a0001c0001t0004g0122 a0001c0003t0004g0008 a0002c0002t0001g0273 a0002c0002t0001g0275 a0002c0002t0002g0221 a0002c0002t0002g0274 a0002c0002t0002g0286 a0002c0002t0006g0239 a0002c0002t0007g0224 a0002c0002t0007g0232 a0002c0002t0007g0240 a0002c0002t0017g0233 a0002c0002t0018g0241 a0002c0002t0020g0226 a0002c0002t0028g0276 a0002c0007t0005g0222	18	292	0.0616	-7	c.219 others(26): Show c.219+10363_219+10369delATCTCAG	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236445292	ATCTCAGC ATCTCAGC	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA19074.hp1 NA19074.hp2 HG02027.hp1 NA19074.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0060 a0001c0001t0002g0071 a0001c0003t0001g0014 a0001c0001t0001g0060 a0001c0001t0002g0071 a0001c0003t0001g0014	3	292	0.0103	-7	c.219 others(26): Show c.219+17845_219+17851delTCAGCTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDA_chrX_69611113_70044472	69635566	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG01109.hp1 others(24): Show HG00140.hp1 HG00639.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG02004.hp2 HG02056.hp1 HG02148.hp2 HG02683.hp1 HG02738.hp1 HG02886.hp1 HG02896.hp2 HG03017.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03669.hp2 HG04184.hp2 NA18959.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 others(24): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0002g0008 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0007g0036 a0001c0001t0009g0006 a0001c0001t0014g0027 a0001c0001t0016g0003 a0003c0005t0001g0018	27	135	0.2000	-7	c.396 others(26): Show c.396+18876_396+18882delTTTTTTT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69764234	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00733.hp2 HG01074.hp1 others(24): Show HG00423.hp1 HG00733.hp2 HG01074.hp1 HG01081.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01891.hp1 HG01978.hp2 HG01981.hp2 HG02074.hp1 HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02723.hp2 HG02922.hp2 HG03130.hp1 HG03195.hp2 HG03490.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp1 NA18522.hp1 NA18906.hp2 NA19072.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0044 a0001c0001t0001g0108 a0001c0001t0001g0114 others(24): Show a0001c0001t0001g0044 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0134 a0001c0001t0001g0174 a0001c0001t0001g0198 a0001c0001t0002g0004 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0122 a0001c0001t0004g0129 a0001c0001t0004g0199 a0001c0001t0005g0121 a0001c0001t0011g0135 a0001c0001t0012g0109 a0001c0001t0015g0120 a0001c0004t0001g0005 a0002c0003t0001g0110	27	127	0.2126	-7	c.396 others(28): Show c.396+147550_396+147556delTTTTTTT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69782366	TAAAAAAA TAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG00741.hp1 others(7): Show HG00099.hp1 HG00733.hp1 HG00741.hp1 HG01192.hp1 HG01358.hp1 HG02055.hp1 HG02257.hp2 HG02683.hp2 HG03927.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0002t0001	a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0041 others(7): Show a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0003g0039 a0001c0001t0018g0040 a0001c0002t0001g0030 a0001c0002t0001g0031	10	113	0.0885	-7	c.396 others(28): Show c.396+165682_396+165688delAAAAAAA	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69910419	GTGTGTGT GTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02615.hp2 HG03486.hp1 HG01109.hp1 HG02615.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0125 a0001c0001t0003g0024 a0001c0001t0008g0184 a0001c0001t0001g0125 a0001c0001t0003g0024 a0001c0001t0008g0184	3	226	0.0133	-7	c.397 others(26): Show c.397-46606_397-46600delGTGTGTT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDC3_chr15_74625558_74701024	74666343	CCCTATGA CCCTATGA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp2 HG02717.hp2 others(10): Show HG01243.hp1 HG01255.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0275 others(10): Show a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0005g0274	13	284	0.0458	-7	c.484 others(24): Show c.484+5105_484+5111delTCATAGG	EDC3	ENSG00000179151.13	transcript	ENST00000315127.9	protein_coding	3/6			chr15	TogoVar
EDDM13_chr19_56267748_56315454	56284513	ATTTTTTT ATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00544.hp2 others(65): Show HG00323.hp2 HG00438.hp1 HG00544.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp2 HG01169.hp2 HG01243.hp2 HG01884.hp1 HG02004.hp1 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp2 HG02559.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02965.hp1 HG02970.hp2 HG03195.hp2 HG03486.hp1 HG03540.hp2 HG03834.hp1 NA18939.hp1 NA18945.hp2 NA18949.hp1 NA18952.hp2 NA18953.hp1 NA18961.hp1 NA18966.hp1 NA18968.hp2 NA18970.hp1 NA18982.hp1 NA18983.hp2 NA18988.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA19001.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19030.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19062.hp1 NA19066.hp1 NA19070.hp1 NA19075.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0040 others(54): Show a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0003g0012 a0001c0001t0003g0211 a0001c0001t0003g0289 a0001c0001t0003g0304 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0004g0294 a0001c0001t0007g0290 a0001c0007t0001g0284	68	221	0.3077	-7	c.127 others(22): Show c.127+322_127+328delTTTTTTT	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
EDEM2_chr20_35110364_35152336	35148711	TCAAAAAA TCAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG03130.hp1 others(3): Show HG02258.hp1 HG02559.hp2 HG03130.hp1 HG03195.hp2 HG03453.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0155 a0001c0001t0001g0172 a0001c0001t0001g0217 others(3): Show a0001c0001t0001g0155 a0001c0001t0001g0172 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0002t0001g0219	6	180	0.0333	-7	c.-14 others(18): Show c.-1460_-1454delTTTTTTG	EDEM2	ENSG00000088298.13	transcript	ENST00000374492.8	protein_coding		1376		chr20	TogoVar
EDIL3_chr5_83935554_84389880	84080115	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00642.hp1 others(20): Show HG00140.hp1 HG00438.hp1 HG00642.hp1 HG01070.hp1 HG01109.hp2 HG01167.hp2 HG01175.hp2 HG01261.hp1 HG01361.hp1 HG02015.hp1 HG02015.hp2 HG02451.hp2 HG02523.hp2 HG02615.hp1 HG02615.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0017 a0001c0001t0019 a0001c0002t0002 a0001c0003t0001 a0001c0004t0010 a0001c0007t0001	a0001c0001t0001g0074 a0001c0001t0001g0106 a0001c0001t0002g0003 others(20): Show a0001c0001t0001g0074 a0001c0001t0001g0106 a0001c0001t0002g0003 a0001c0001t0002g0013 a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0001t0002g0081 a0001c0001t0002g0089 a0001c0001t0003g0010 a0001c0001t0003g0036 a0001c0001t0003g0060 a0001c0001t0003g0096 a0001c0001t0003g0119 a0001c0001t0004g0093 a0001c0001t0009g0137 a0001c0001t0017g0027 a0001c0001t0019g0155 a0001c0002t0002g0101 a0001c0003t0001g0058 a0001c0003t0001g0151 a0001c0004t0010g0156 a0001c0004t0010g0157 a0001c0007t0001g0134	23	35	0.6571	-7	c.652 others(26): Show c.652-13516_652-13510delTTTTTTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	6/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84161346	TATGACTA TATGACTA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02895.hp2 HG02896.hp1 others(3): Show HG02451.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0017 a0001c0002t0005 others(1): Show a0001c0001t0001 a0001c0001t0017 a0001c0002t0005 a0001c0004t0010	a0001c0001t0001g0034 a0001c0001t0017g0027 a0001c0002t0005g0032 others(3): Show a0001c0001t0001g0034 a0001c0001t0017g0027 a0001c0002t0005g0032 a0001c0002t0005g0033 a0001c0004t0010g0156 a0001c0004t0010g0157	6	156	0.0385	-7	c.355 others(26): Show c.355+19040_355+19046delTAGTCAT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	4/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84262659	GTTTTTTT GTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03041.hp1 HG03041.hp2 others(2): Show HG02451.hp1 HG03041.hp1 HG03041.hp2 HG03486.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0004t0003	a0001c0001t0001g0028 a0001c0001t0002g0053 a0001c0002t0001g0144 others(2): Show a0001c0001t0001g0028 a0001c0001t0002g0053 a0001c0002t0001g0144 a0001c0003t0001g0151 a0001c0004t0003g0152	5	6	0.8333	-7	c.68- others(22): Show c.68-8454_68-8448delAAAAAAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDN3_chr20_59295611_59330992	59306595	TAAAAAAA TAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp1 HG01074.hp2 others(41): Show HG00642.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01261.hp1 HG01361.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02145.hp2 HG02293.hp1 HG02602.hp1 HG02698.hp1 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03927.hp2 HG04115.hp1 NA18747.hp2 NA18956.hp2 NA18967.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18986.hp1 NA18986.hp2 NA19003.hp2 NA19007.hp1 NA19010.hp2 NA19057.hp1 NA19072.hp1 NA19089.hp2 NA19090.hp1 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0007 a0001c0001t0001g0039 a0001c0001t0001g0099 others(16): Show a0001c0001t0001g0007 a0001c0001t0001g0039 a0001c0001t0001g0099 a0001c0001t0001g0126 a0001c0001t0001g0212 a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0025 a0001c0001t0002g0043 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0181 a0001c0001t0003g0007 a0001c0001t0010g0180	44	257	0.1712	-7	c.365 others(24): Show c.365+4891_365+4897delAAAAAAA	EDN3	ENSG00000124205.18	transcript	ENST00000337938.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
EDNRA_chr4_147476097_147549954	147505327	ATTTTTTT ATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00597.hp2 others(49): Show HG00099.hp1 HG00140.hp2 HG00597.hp2 HG00733.hp2 HG00735.hp1 HG01071.hp1 HG01106.hp1 HG01167.hp2 HG01496.hp2 HG01891.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG02040.hp2 HG02486.hp2 HG02523.hp1 HG02698.hp2 HG02717.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03486.hp2 HG03492.hp1 HG04199.hp1 HG04228.hp1 NA18942.hp1 NA18947.hp2 NA18962.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18972.hp2 NA18974.hp1 NA18982.hp2 NA18984.hp2 NA18988.hp1 NA18992.hp1 NA18993.hp1 NA18998.hp2 NA19002.hp1 NA19007.hp2 NA19011.hp2 NA19057.hp1 NA19066.hp1 NA19078.hp1 NA19080.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0003 a0001c0001 a0001c0002 a0004c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0014 a0001c0002t0018 a0001c0002t0024 a0001c0002t0025 a0004c0003t0002	a0001c0001t0002g0162 a0001c0001t0003g0010 a0001c0001t0003g0205 others(46): Show a0001c0001t0002g0162 a0001c0001t0003g0010 a0001c0001t0003g0205 a0001c0001t0003g0207 a0001c0001t0003g0211 a0001c0001t0003g0241 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0251 a0001c0001t0003g0254 a0001c0001t0006g0223 a0001c0001t0006g0225 a0001c0001t0006g0231 a0001c0001t0006g0257 a0001c0001t0007g0258 a0001c0001t0026g0206 a0001c0002t0001g0094 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0213 a0001c0002t0002g0227 a0001c0002t0002g0234 a0001c0002t0002g0236 a0001c0002t0002g0249 a0001c0002t0002g0261 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0004g0189 a0001c0002t0004g0208 a0001c0002t0004g0210 a0001c0002t0004g0212 a0001c0002t0004g0228 a0001c0002t0004g0230 a0001c0002t0004g0237 a0001c0002t0004g0246 a0001c0002t0004g0253 a0001c0002t0004g0256 a0001c0002t0006g0187 a0001c0002t0007g0209 a0001c0002t0007g0217 a0001c0002t0007g0218 a0001c0002t0014g0203 a0001c0002t0014g0204 a0001c0002t0018g0181 a0001c0002t0024g0146 a0001c0002t0025g0233 a0004c0003t0002g0226	52	105	0.4952	-7	c.421 others(26): Show c.421-14502_421-14496delTTTTTTT	EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
EEA1_chr12_92765637_92934295	92877113	TTTTTTTC TTTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp2 HG03516.hp2 others(1): Show HG01243.hp2 HG02109.hp2 HG03516.hp2 NA20129.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0012 a0002c0008t0012	a0002c0008t0012g0015 a0002c0008t0012g0236 a0002c0008t0012g0237 others(1): Show a0002c0008t0012g0015 a0002c0008t0012g0236 a0002c0008t0012g0237 a0002c0008t0012g0238	4	242	0.0165	-7	c.118 others(26): Show c.118-12133_118-12127delGAAAAAA	EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	2/28			chr12	TogoVar
EEF1A1_chr6_73510750_73526032	73524781	TATATATA TATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG01070.hp2 others(25): Show HG00438.hp2 HG00621.hp2 HG01070.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02135.hp1 HG03239.hp1 HG03492.hp1 HG03942.hp1 NA18612.hp1 NA18941.hp2 NA18948.hp2 NA18951.hp2 NA18955.hp1 NA18959.hp1 NA18966.hp1 NA18978.hp1 NA18984.hp2 NA18985.hp2 NA19000.hp2 NA19011.hp1 NA19057.hp2 NA19088.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0027 a0001c0001t0003 a0001c0001t0027	a0001c0001t0003g0002 a0001c0001t0003g0051 a0001c0001t0003g0052 others(1): Show a0001c0001t0003g0002 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0027g0054	28	421	0.0665	-7	c.-38 others(18): Show c.-3819_-3813delTATATAT	EEF1A1	ENSG00000156508.19	transcript	ENST00000309268.11	protein_coding		3750		chr6	TogoVar
EEF1A1_chr6_73510750_73526032	73524782	ATATATAT ATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01261.hp1 HG01928.hp1 others(20): Show HG01256.hp2 HG01261.hp1 HG01928.hp1 HG01993.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG02293.hp1 HG02572.hp2 HG03041.hp1 NA18946.hp1 NA18950.hp1 NA18969.hp1 NA18987.hp1 NA18988.hp2 NA19030.hp1 NA19043.hp2 NA19064.hp2 NA19066.hp2 NA19074.hp2 NA19076.hp1 NA19085.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0006 a0001c0001t0003 a0001c0002t0006	a0001c0001t0003g0002 a0001c0002t0006g0006 a0001c0001t0003g0002 a0001c0002t0006g0006	23	422	0.0545	-7	c.-38 others(18): Show c.-3820_-3814delATATATA	EEF1A1	ENSG00000156508.19	transcript	ENST00000309268.11	protein_coding		3751		chr6	TogoVar
EEF1AKMT1_chr13_20723731_20778961	20768081	CTAACATA CTAACATA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02698.hp1 HG02809.hp2 others(8): Show HG00735.hp1 HG02698.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03453.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001	a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 others(8): Show a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0003t0001g0034 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0184	11	346	0.0318	-7	c.-20 others(24): Show c.-20+5833_-20+5839delTATGTTA	EEF1AKMT1	ENSG00000150456.11	transcript	ENST00000382758.6	protein_coding	1/4			chr13	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124772420	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01074.hp1 others(9): Show HG00280.hp1 HG00323.hp2 HG01074.hp1 HG01175.hp1 HG01496.hp2 HG01952.hp2 HG02683.hp1 HG04228.hp1 NA18957.hp2 NA18991.hp1 NA18998.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0265 others(7): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0265 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0298 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306	12	101	0.1188	-7	c.399 others(24): Show c.399+2248_399+2254delAAAAAAA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1E1_chr6_8074395_8107548	8101244	ATATATAT ATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01433.hp1 HG01433.hp2 others(13): Show HG01175.hp2 HG01433.hp1 HG01433.hp2 HG02074.hp2 HG02135.hp2 HG02602.hp1 HG02976.hp1 HG03688.hp1 HG04199.hp2 NA18747.hp1 NA18942.hp1 NA18985.hp2 NA19063.hp1 NA19072.hp2 NA19087.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0017 a0001c0001t0001g0041 a0001c0001t0001g0064 others(13): Show a0001c0001t0001g0017 a0001c0001t0001g0041 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0242 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0002g0079	16	330	0.0485	-7	c.87+ others(22): Show c.87+1184_87+1190delATATATA	EEF1E1	ENSG00000124802.12	transcript	ENST00000379715.10	protein_coding	1/3			chr6	TogoVar
EEF1G_chr11_62554596_62578891	62578063	CAAAAAAA CAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(171): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19055.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(87): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0002t0001g0057 a0001c0004t0001g0073 a0001c0005t0001g0074 a0002c0003t0001g0039	174	230	0.7565	-7	c.-42 others(18): Show c.-4228_-4222delTTTTTTT	EEF1G	ENSG00000254772.10	transcript	ENST00000329251.5	protein_coding		4173		chr11	TogoVar
EEIG2_chr1_108555100_108644322	108598334	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG03195.hp1 others(3): Show HG02145.hp1 HG02145.hp2 HG03195.hp1 NA18989.hp2 NA19003.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0006 a0001c0001t0002g0195 a0001c0001t0002g0214 others(2): Show a0001c0001t0002g0006 a0001c0001t0002g0195 a0001c0001t0002g0214 a0001c0001t0002g0228 a0001c0001t0004g0170	6	31	0.1935	-7	c.138 others(24): Show c.138-2214_138-2208delAAAAAAA	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEIG2_chr1_108555100_108644322	108642634	TGACTAAA TGACTAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01070.hp1 HG01074.hp1 others(51): Show HG00408.hp2 HG01070.hp1 HG01074.hp1 HG01361.hp2 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02109.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02622.hp1 HG02717.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG03195.hp1 HG03491.hp1 HG03516.hp1 HG03831.hp2 NA18747.hp1 NA18940.hp1 NA18943.hp2 NA18944.hp2 NA18953.hp2 NA18964.hp1 NA18967.hp1 NA18971.hp1 NA18975.hp2 NA18977.hp2 NA18987.hp1 NA18989.hp2 NA18994.hp1 NA18999.hp1 NA19001.hp1 NA19003.hp1 NA19010.hp1 NA19056.hp2 NA19060.hp1 NA19064.hp2 NA19080.hp1 NA19081.hp2 NA19084.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0027 a0001c0001t0002 a0001c0001t0027	a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 others(47): Show a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0097 a0001c0001t0002g0177 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0027g0183	54	270	0.2000	-7	c.74 others(18): Show c.7485_*7491delGACTAAA	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding		3313		chr1	TogoVar
EFCAB11_chr14_89789669_89959730	89847741	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18973.hp2 NA18989.hp2 others(3): Show NA18959.hp1 NA18973.hp2 NA18989.hp2 NA19056.hp1 NA19083.hp1 NA19089.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0016 a0001c0003t0001 a0001c0003t0016	a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0023 others(3): Show a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0023 a0001c0003t0016g0009 a0001c0003t0016g0010 a0001c0003t0016g0024	6	210	0.0286	-7	c.411 others(26): Show c.411-50424_411-50418delTTTTTTT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB12_chr3_129396321_129433636	129400120	CTTTTTTT CTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00597.hp1 others(80): Show HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00738.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01928.hp1 HG01975.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02165.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18944.hp1 NA18947.hp2 NA18951.hp1 NA18959.hp1 NA18960.hp1 NA18966.hp1 NA18968.hp1 NA18973.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18993.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19068.hp1 NA19077.hp1 NA19079.hp2 NA19089.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0011 a0013 a0017	a0001c0001 a0002c0002 a0002c0016 others(4): Show a0001c0001 a0002c0002 a0002c0016 a0006c0005 a0011c0021 a0013c0013 a0017c0017	a0001c0001t0001 a0002c0002t0001 a0002c0016t0001 others(4): Show a0001c0001t0001 a0002c0002t0001 a0002c0016t0001 a0006c0005t0001 a0011c0021t0001 a0013c0013t0001 a0017c0017t0001	a0001c0001t0001g0019 a0001c0001t0001g0063 a0002c0002t0001g0002 others(45): Show a0001c0001t0001g0019 a0001c0001t0001g0063 a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0012 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0075 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0128 a0002c0002t0001g0154 a0002c0002t0001g0191 a0002c0002t0001g0204 a0002c0016t0001g0098 a0006c0005t0001g0005 a0006c0005t0001g0083 a0006c0005t0001g0085 a0006c0005t0001g0088 a0006c0005t0001g0127 a0006c0005t0001g0135 a0006c0005t0001g0167 a0011c0021t0001g0111 a0013c0013t0001g0033 a0017c0017t0001g0099	83	170	0.4882	-7	c.14 others(18): Show c.1466_*1472delAAAAAAA	EFCAB12	ENSG00000172771.13	transcript	ENST00000505956.6	protein_coding		1200		chr3	TogoVar
EFCAB13_chr17_47318955_47446312	47349759	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00558.hp1 others(38): Show HG00438.hp2 HG00544.hp1 HG00558.hp1 HG01346.hp2 HG01515.hp2 HG02056.hp2 HG02148.hp1 NA18612.hp1 NA18747.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18952.hp1 NA18961.hp2 NA18964.hp1 NA18969.hp2 NA18975.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18990.hp1 NA18993.hp2 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp2 NA19055.hp1 NA19056.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19076.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA21309.hp1	a0003 a0007 a0009 others(1): Show a0003 a0007 a0009 a0013	a0003c0004 a0003c0008 a0003c0016 others(3): Show a0003c0004 a0003c0008 a0003c0016 a0007c0009 a0009c0012 a0013c0017	a0003c0004t0002 a0003c0008t0003 a0003c0016t0002 others(4): Show a0003c0004t0002 a0003c0008t0003 a0003c0016t0002 a0007c0009t0001 a0007c0009t0002 a0009c0012t0002 a0013c0017t0001	a0003c0004t0002g0109 a0003c0004t0002g0214 a0003c0004t0002g0216 others(37): Show a0003c0004t0002g0109 a0003c0004t0002g0214 a0003c0004t0002g0216 a0003c0004t0002g0219 a0003c0004t0002g0220 a0003c0004t0002g0222 a0003c0004t0002g0224 a0003c0004t0002g0226 a0003c0004t0002g0227 a0003c0004t0002g0228 a0003c0004t0002g0230 a0003c0004t0002g0231 a0003c0004t0002g0232 a0003c0004t0002g0233 a0003c0004t0002g0234 a0003c0004t0002g0236 a0003c0004t0002g0237 a0003c0004t0002g0238 a0003c0004t0002g0239 a0003c0004t0002g0240 a0003c0004t0002g0243 a0003c0004t0002g0244 a0003c0004t0002g0245 a0003c0004t0002g0246 a0003c0004t0002g0249 a0003c0004t0002g0250 a0003c0004t0002g0251 a0003c0004t0002g0253 a0003c0008t0003g0276 a0003c0016t0002g0223 a0007c0009t0001g0221 a0007c0009t0002g0218 a0007c0009t0002g0235 a0007c0009t0002g0247 a0007c0009t0002g0248 a0007c0009t0002g0252 a0009c0012t0002g0004 a0009c0012t0002g0215 a0009c0012t0002g0241 a0013c0017t0001g0209	41	146	0.2808	-7	c.661 others(24): Show c.661+1828_661+1834delTTTTTTT	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB14_chr1_46670159_46724114	46679599	GTTTTTTT GTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(140): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02683.hp2 HG02717.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03540.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA19005.hp2 NA19006.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19068.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19083.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0003 a0001c0001 a0001c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0002t0002 a0003c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0019 others(106): Show a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0005g0101 a0001c0001t0005g0102 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0125 a0001c0001t0006g0114 a0001c0001t0006g0117 a0001c0001t0006g0118 a0001c0001t0007g0126 a0001c0001t0007g0127 a0001c0001t0007g0128 a0001c0001t0010g0097 a0001c0001t0013g0289 a0001c0001t0014g0038 a0001c0001t0016g0190 a0001c0001t0016g0214 a0001c0001t0017g0256 a0001c0001t0017g0266 a0001c0001t0019g0051 a0001c0001t0021g0042 a0001c0001t0033g0224 a0001c0001t0034g0258 a0001c0001t0035g0240 a0001c0001t0037g0246 a0001c0002t0002g0009 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0002g0070 a0003c0003t0002g0024	143	164	0.8720	-7	c.131 others(24): Show c.1313-970_1313-964delAAAAAAA	EFCAB14	ENSG00000159658.15	transcript	ENST00000371933.8	protein_coding	10/10			chr1	TogoVar
EFCAB2_chr1_244964682_245092837	245039300	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG00735.hp1 others(33): Show HG00280.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01071.hp2 HG01106.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp2 HG01978.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02257.hp2 HG02451.hp1 HG02615.hp1 HG02698.hp2 HG02717.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03195.hp2 HG03492.hp2 HG03704.hp2 HG04228.hp1 HG06807.hp1 NA18943.hp1 NA18999.hp2 NA19010.hp1 NA19090.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0119 a0001c0001t0001g0178 a0001c0001t0001g0202 others(33): Show a0001c0001t0001g0119 a0001c0001t0001g0178 a0001c0001t0001g0202 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0137 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0184 a0001c0002t0002g0196 a0001c0002t0002g0289	36	61	0.5902	-7	c.111 others(26): Show c.111-20059_111-20053delAAAAAAA	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB5_chr17_29936634_30113452	30026961	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02055.hp2 HG02698.hp1 others(6): Show HG01255.hp1 HG02055.hp2 HG02698.hp1 HG02723.hp2 HG02809.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0005c0007 a0006c0008 a0001c0001 a0005c0007 a0006c0008	a0001c0001t0001 a0005c0007t0002 a0006c0008t0002 a0001c0001t0001 a0005c0007t0002 a0006c0008t0002	a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 others(6): Show a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0225 a0001c0001t0001g0239 a0005c0007t0002g0136 a0006c0008t0002g0017 a0006c0008t0002g0018	9	27	0.3333	-7	c.104 others(26): Show c.1045-7232_1045-7226delTTTTTTT	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30097054	ATATATAT ATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp2 HG00741.hp2 others(18): Show HG00621.hp2 HG00642.hp2 HG00741.hp2 HG01099.hp1 HG01123.hp2 HG01255.hp2 HG01884.hp1 HG01952.hp1 HG02056.hp1 HG02257.hp2 HG02559.hp2 HG02698.hp2 HG02922.hp1 HG03209.hp2 HG03490.hp2 HG03942.hp2 NA18993.hp2 NA19001.hp2 NA19007.hp2 NA19054.hp2 NA19067.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0002c0005 others(3): Show a0001c0001 a0002c0002 a0002c0005 a0003c0003 a0003c0013 a0008c0010	a0001c0001t0001 a0002c0002t0002 a0002c0005t0002 others(3): Show a0001c0001t0001 a0002c0002t0002 a0002c0005t0002 a0003c0003t0002 a0003c0013t0002 a0008c0010t0002	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0208 others(18): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0208 a0002c0002t0002g0002 a0002c0002t0002g0029 a0002c0002t0002g0046 a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0080 a0002c0002t0002g0085 a0002c0002t0002g0087 a0002c0002t0002g0092 a0002c0005t0002g0059 a0002c0005t0002g0063 a0003c0003t0002g0129 a0003c0003t0002g0213 a0003c0003t0002g0214 a0003c0013t0002g0217 a0008c0010t0002g0093	21	246	0.0854	-7	c.432 others(26): Show c.4321+4120_4321+4126delATATATT	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30097056	ATATATTT ATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02486.hp2 others(3): Show HG02055.hp1 HG02257.hp1 HG02486.hp2 HG02809.hp1 HG03130.hp1 HG03540.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0002 a0001c0001t0001 a0004c0004t0002	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0119 others(3): Show a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0146 a0004c0004t0002g0015 a0004c0004t0002g0100	6	246	0.0244	-7	c.432 others(26): Show c.4321+4122_4321+4128delATATTTT	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43599509	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02145.hp1 HG02886.hp2 others(5): Show HG00423.hp1 HG02145.hp1 HG02886.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA19005.hp2 NA19007.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0120 others(5): Show a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0133 a0002c0002t0001g0143 a0002c0002t0001g0240 a0003c0003t0001g0209 a0003c0003t0001g0210	8	13	0.6154	-7	c.287 others(24): Show c.2876+553_2876+559delTTTTTTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	23/31			chr22	TogoVar
EFCAB8_chr20_32853923_32966845	32935188	CTTTCTTT CTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01123.hp2 HG01361.hp2 others(16): Show HG00323.hp1 HG01123.hp2 HG01361.hp2 HG02257.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02886.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG06807.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0007 a0020 a0045 a0046	a0001c0001 a0002c0002 a0005c0013 others(6): Show a0001c0001 a0002c0002 a0005c0013 a0005c0035 a0005c0036 a0007c0006 a0020c0025 a0045c0055 a0046c0054	a0001c0001t0005 a0002c0002t0001 a0002c0002t0004 others(8): Show a0001c0001t0005 a0002c0002t0001 a0002c0002t0004 a0005c0013t0001 a0005c0035t0001 a0005c0036t0004 a0007c0006t0004 a0020c0025t0001 a0020c0025t0002 a0045c0055t0001 a0046c0054t0004	a0001c0001t0005g0222 a0002c0002t0001g0002 a0002c0002t0001g0003 others(14): Show a0001c0001t0005g0222 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0095 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0004g0103 a0002c0002t0004g0104 a0005c0013t0001g0202 a0005c0035t0001g0097 a0005c0036t0004g0183 a0007c0006t0004g0201 a0020c0025t0001g0195 a0020c0025t0002g0021 a0045c0055t0001g0276 a0046c0054t0004g0101	19	183	0.1038	-7	c.279 others(26): Show c.2790+3856_2790+3862delCTTTTTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32963962	TCTCCTTC TCTCCTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG03209.hp2 others(1): Show HG01167.hp1 HG01169.hp2 HG03209.hp2 NA18906.hp2	a0009 a0017 a0009 a0017	a0009c0041 a0017c0018 a0009c0041 a0017c0018	a0009c0041t0001 a0017c0018t0004 a0017c0018t0005 a0009c0041t0001 a0017c0018t0004 a0017c0018t0005	a0009c0041t0001g0253 a0017c0018t0004g0149 a0017c0018t0004g0194 others(1): Show a0009c0041t0001g0253 a0017c0018t0004g0149 a0017c0018t0004g0194 a0017c0018t0005g0231	4	282	0.0142	-7	c.23 others(18): Show c.2354_*2360delCTCCTTC	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding		2118		chr20	TogoVar
EFCAB9_chr5_172189172_172208454	172189813	GAAAGGAA GAAAGGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG03139.hp2 others(1): Show HG02257.hp2 HG02451.hp2 HG03139.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0124 a0001c0001t0002g0027 a0001c0001t0002g0124	4	265	0.0151	-7	c.-43 others(18): Show c.-4359_-4353delAAAGGAA	EFCAB9	ENSG00000214360.5	transcript	ENST00000398186.5	protein_coding		4358		chr5	TogoVar
EFCAB9_chr5_172189172_172208454	172193214	TAAAATAA TAAAATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00733.hp1 others(6): Show HG00280.hp1 HG00280.hp2 HG00733.hp1 HG00741.hp1 HG01081.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0040 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0060 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0002t0001g0141	9	406	0.0222	-7	c.-95 others(16): Show c.-958_-952delAAAATAA	EFCAB9	ENSG00000214360.5	transcript	ENST00000398186.5	protein_coding		957		chr5	TogoVar
EFCC1_chr3_128996304_129045742	129028641	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01069.hp2 HG01071.hp2 others(21): Show HG00642.hp2 HG01069.hp2 HG01071.hp2 HG01934.hp2 HG02015.hp2 HG02056.hp2 HG02273.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG03239.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18950.hp1 NA19012.hp1 NA19063.hp1 NA19066.hp2 NA19090.hp1 NA20129.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0011	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0011c0015	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0011c0015t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0094 others(18): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0151 a0001c0001t0001g0164 a0001c0001t0001g0195 a0002c0002t0001g0029 a0002c0002t0001g0072 a0002c0002t0001g0081 a0002c0002t0001g0086 a0004c0004t0001g0209 a0004c0004t0001g0210 a0004c0004t0001g0211 a0004c0004t0001g0213 a0004c0004t0001g0217 a0004c0004t0001g0219 a0004c0004t0001g0220 a0011c0015t0001g0218	24	345	0.0696	-7	c.981 others(24): Show c.981-2058_981-2052delTTTTTTT	EFCC1	ENSG00000114654.8	transcript	ENST00000683648.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar

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