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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DUSP7_chr3_52043919_52061571	52048021	GGGGAATG others(8): Show GGGGAATGTCAGAAAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0058 a0001c0001t0021g0058	1	382	0.0026	-15	c.27 others(26): Show c.2779_*2793delATTTCTGACATTCCC		DUSP7	ENSG00000164086.10	transcript	ENST00000495880.2	protein_coding					897		chr3	TogoVar
DUXA_chr19_57149021_57172485	57172090	GGGCGCGC others(8): Show GGGCGCGCGAGGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	443	0.0023	-15	c.-46 others(26): Show c.-4662_-4648delGCCCCCTCGCGCGCC		DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding					4606		chr19	TogoVar
DVL1_chr1_1330278_1354418	1336813	GGTGCCAG others(8): Show GGTGCCAGCGAGGGCC	G G	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	342	0.0029	-15	c.171 others(32): Show c.1715-313_1715-299delGGCCCTCGCTGGCAC		DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding	14/14						chr1	TogoVar
DVL3_chr3_184150377_184178614	184170135	CCCCGCAC others(8): Show CCCCGCACCCATACAA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18942.hp1 NA18942.hp2 NA18974.hp2 others(3): Show NA18942.hp1 NA18942.hp2 NA18974.hp2 NA18983.hp2 NA19002.hp2 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0010 a0002c0002t0002 a0002c0002t0010	a0002c0002t0002g0001 a0002c0002t0010g0001 a0002c0002t0002g0001 a0002c0002t0010g0001	6	398	0.0151	-15	c.163 others(24): Show c.1638_1652delATACAACCCGCACCC	p.Tyr others(13): Show p.Tyr547_Pro551del	DVL3	ENSG00000161202.20	transcript	ENST00000313143.9	protein_coding	14/15	1897/5269	1638/2151	546/716		INFO_REALIGN_3_PRIME	chr3	TogoVar
DYM_chr18_49031387_49465645	49215952	GCCTCACT others(8): Show GCCTCACTCGGGAAGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00544.hp1 others(65): Show HG00099.hp2 HG00423.hp2 HG00544.hp1 HG00621.hp2 HG00741.hp2 HG01109.hp1 HG01168.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02300.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02970.hp2 HG03225.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03688.hp2 NA18747.hp2 NA18943.hp2 NA18946.hp2 NA18948.hp1 NA18951.hp1 NA18954.hp1 NA18955.hp2 NA18959.hp2 NA18964.hp1 NA18975.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18989.hp2 NA18991.hp1 NA18992.hp2 NA19009.hp2 NA19010.hp1 NA19056.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19084.hp1 NA19088.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0019 a0002c0006t0006	a0001c0001t0001g0177 a0001c0001t0001g0217 a0001c0001t0001g0221 others(65): Show a0001c0001t0001g0177 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0249 a0001c0001t0002g0113 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0232 a0001c0001t0002g0235 a0001c0001t0002g0248 a0001c0001t0003g0115 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0173 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0215 a0001c0001t0004g0168 a0001c0001t0004g0190 a0001c0001t0005g0156 a0001c0001t0006g0158 a0001c0001t0006g0169 a0001c0001t0006g0172 a0001c0001t0006g0179 a0001c0001t0006g0187 a0001c0001t0006g0208 a0001c0001t0008g0019 a0001c0001t0008g0022 a0001c0001t0012g0160 a0001c0001t0012g0161 a0001c0001t0012g0211 a0001c0001t0019g0166 a0001c0001t0019g0167 a0002c0006t0006g0157	68	288	0.2361	-15	c.146 others(34): Show c.1461-6252_1461-6238delGCTTCCCGAGTGAGG		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	13/17						chr18	TogoVar
DYM_chr18_49031387_49465645	49292592	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG02257.hp1 others(4): Show HG01515.hp2 HG01517.hp2 HG02257.hp1 HG02717.hp2 HG04199.hp2 NA18747.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0037 a0001c0001t0040	a0001c0001t0001g0253 a0001c0001t0003g0180 a0001c0001t0004g0168 others(4): Show a0001c0001t0001g0253 a0001c0001t0003g0180 a0001c0001t0004g0168 a0001c0001t0004g0190 a0001c0001t0005g0259 a0001c0001t0037g0112 a0001c0001t0040g0230	7	22	0.3182	-15	c.764 others(32): Show c.764-5991_764-5977delTTTTTTTTTTTTTTT		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17						chr18	TogoVar
DYM_chr18_49031387_49465645	49303197	GATTTCTC others(8): Show GATTTCTCCTGAGGGA	G G	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	288	0.0035	-15	c.764 others(34): Show c.764-16596_764-16582delTCCCTCAGGAGAAAT		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17						chr18	TogoVar
DYM_chr18_49031387_49465645	49317586	TCTCTCTC others(8): Show TCTCTCTCTCTCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA18955.hp1 HG01943.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0078 a0001c0001t0005g0262 a0001c0001t0003g0078 a0001c0001t0005g0262	2	284	0.0070	-15	c.763 others(34): Show c.763+14263_763+14277delGGGGGAGAGAGAGAG		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17						chr18	TogoVar
DYNC1H1_chr14_101959573_102061443	101970470	GTTGTTTT others(8): Show GTTGTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0017 a0001c0009t0005g0017	1	239	0.0042	-15	c.257 others(32): Show c.257-5239_257-5225delGTTTTTTTTTTTTTT		DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	1/77					INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	101971085	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0009 a0001c0009t0005g0009	1	105	0.0095	-15	c.257 others(32): Show c.257-4611_257-4597delTTTTTTTTTTTTTTT		DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	1/77					INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102048085	TCATGGAC others(8): Show TCATGGACCATTGTTC	T T	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	278	0.0036	-15	c.132 others(32): Show c.13218+70_13218+84delTTCCATGGACCATTG		DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	73/77					INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1I2_chr2_171682469_171755158	171697853	CAAGAAAA others(8): Show CAAGAAAAGAAAAGAA	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0217 a0001c0001t0009g0217	1	83	0.0120	-15	c.226 others(32): Show c.226+4980_226+4994delAAGAAAAGAAAAGAA		DYNC1I2	ENSG00000077380.16	transcript	ENST00000397119.8	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr2	TogoVar
DYNC1I2_chr2_171682469_171755158	171733459	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03486.hp2 HG02922.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0016 a0001c0001t0007g0016	2	89	0.0225	-15	c.153 others(34): Show c.1536+3622_1536+3636delTTTTTTTTTTTTTTT		DYNC1I2	ENSG00000077380.16	transcript	ENST00000397119.8	protein_coding	15/17					INFO_REALIGN_3_PRIME	chr2	TogoVar
DYNC1I2_chr2_171682469_171755158	171739696	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp2 HG01123.hp2 others(5): Show HG00544.hp1 HG00673.hp2 HG01123.hp2 HG02083.hp2 HG02132.hp1 HG02647.hp1 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0304 others(5): Show a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0005g0307 a0001c0001t0005g0308 a0001c0001t0005g0309	8	127	0.0630	-15	c.153 others(34): Show c.1537-4340_1537-4326delTTTTTTTTTTTTTTT		DYNC1I2	ENSG00000077380.16	transcript	ENST00000397119.8	protein_coding	15/17					INFO_REALIGN_3_PRIME	chr2	TogoVar
DYNC1LI1_chr3_32520974_32575858	32544777	CTTCATTA others(8): Show CTTCATTAAACCTTTT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0074 a0001c0001t0005g0074	1	334	0.0030	-15	c.568 others(28): Show c.568+84_568+98delAAAAGGTTTAATGAA		DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	4/12						chr3	TogoVar
DYNC1LI2_chr16_66715893_66756609	66725249	TGGAGGGA others(8): Show TGGAGGGATCACCTGG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0152 a0001c0001t0001g0153	2	338	0.0059	-15	c.137 others(32): Show c.1378+564_1378+578delCCAGGTGATCCCTCC		DYNC1LI2	ENSG00000135720.13	transcript	ENST00000258198.7	protein_coding	12/12						chr16	TogoVar
DYNC2H1_chr11_103104426_103484863	103362320	CTTTTTTT others(8): Show CTTTTTTTTTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19030.hp2 HG01891.hp1 NA19030.hp2	a0009 a0009	a0009c0035 a0009c0035	a0009c0035t0001 a0009c0035t0001	a0009c0035t0001g0202 a0009c0035t0001g0204 a0009c0035t0001g0202 a0009c0035t0001g0204	2	248	0.0081	-15	c.121 others(36): Show c.12156+3974_12156+3988delCTTTTTTTTTTTTTT		DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	83/88					INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103465713	TAGGTACC others(8): Show TAGGTACCTCATACTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00558.hp1 others(51): Show HG00140.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00738.hp1 HG01361.hp2 HG01496.hp2 HG01891.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp2 HG02109.hp2 HG02148.hp2 HG02257.hp2 HG02451.hp1 HG02602.hp2 HG02615.hp1 HG02683.hp1 HG02698.hp2 HG02809.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03516.hp2 HG03927.hp2 HG04228.hp1 NA18941.hp2 NA18946.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18955.hp2 NA18962.hp1 NA18964.hp1 NA18975.hp1 NA18988.hp2 NA18990.hp2 NA18994.hp1 NA19007.hp2 NA19012.hp1 NA19030.hp2 NA19060.hp1 NA19065.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0009 a0011 a0025 a0028 a0034	a0001c0001 a0001c0005 a0001c0010 others(18): Show a0001c0001 a0001c0005 a0001c0010 a0001c0028 a0001c0036 a0001c0051 a0001c0057 a0002c0003 a0002c0007 a0002c0016 a0002c0022 a0002c0046 a0003c0002 a0004c0004 a0006c0013 a0009c0035 a0009c0065 a0011c0015 a0025c0042 a0028c0059 a0034c0053	a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 others(19): Show a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 a0001c0010t0001 a0001c0028t0001 a0001c0036t0001 a0001c0051t0001 a0001c0057t0001 a0002c0003t0001 a0002c0007t0001 a0002c0016t0002 a0002c0022t0001 a0002c0046t0002 a0003c0002t0001 a0004c0004t0001 a0006c0013t0001 a0009c0035t0001 a0009c0065t0002 a0011c0015t0002 a0025c0042t0001 a0028c0059t0001 a0034c0053t0001	a0001c0001t0001g0101 a0001c0001t0001g0122 a0001c0001t0001g0123 others(51): Show a0001c0001t0001g0101 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0183 a0001c0001t0004g0150 a0001c0001t0004g0153 a0001c0005t0001g0011 a0001c0005t0001g0120 a0001c0005t0001g0194 a0001c0010t0001g0047 a0001c0010t0001g0171 a0001c0010t0001g0179 a0001c0028t0001g0172 a0001c0028t0001g0173 a0001c0036t0001g0193 a0001c0051t0001g0066 a0001c0057t0001g0249 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0028 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0247 a0002c0007t0001g0070 a0002c0016t0002g0255 a0002c0016t0002g0257 a0002c0022t0001g0043 a0002c0022t0001g0044 a0002c0022t0001g0046 a0002c0046t0002g0217 a0003c0002t0001g0154 a0003c0002t0001g0165 a0004c0004t0001g0088 a0006c0013t0001g0082 a0009c0035t0001g0202 a0009c0035t0001g0204 a0009c0065t0002g0203 a0011c0015t0002g0225 a0011c0015t0002g0226 a0011c0015t0002g0227 a0025c0042t0001g0065 a0028c0059t0001g0027 a0034c0053t0001g0236	54	260	0.2077	-15	c.126 others(36): Show c.12649-2865_12649-2851delTACTGAGGTACCTCA		DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	87/88					INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103467509	CTGTTTTG others(8): Show CTGTTTTGTTTTGTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00558.hp1 others(70): Show HG00140.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01192.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp2 HG02109.hp2 HG02145.hp1 HG02148.hp2 HG02602.hp2 HG02683.hp1 HG02698.hp2 HG02809.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03927.hp1 HG03927.hp2 HG04228.hp1 NA18612.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18964.hp1 NA18984.hp2 NA18988.hp2 NA18990.hp2 NA18994.hp1 NA19012.hp1 NA19030.hp2 NA19065.hp1 NA19065.hp2 NA19078.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0013 a0014 a0025 a0028 a0031 a0032 a0034	a0001c0001 a0001c0005 a0001c0010 others(21): Show a0001c0001 a0001c0005 a0001c0010 a0001c0028 a0001c0036 a0001c0057 a0002c0003 a0002c0007 a0002c0022 a0002c0032 a0002c0045 a0003c0002 a0004c0004 a0005c0011 a0006c0013 a0007c0012 a0009c0035 a0013c0021 a0014c0033 a0025c0042 a0028c0059 a0031c0038 a0032c0037 a0034c0053	a0001c0001t0001 a0001c0005t0001 a0001c0010t0001 others(21): Show a0001c0001t0001 a0001c0005t0001 a0001c0010t0001 a0001c0028t0001 a0001c0036t0001 a0001c0057t0001 a0002c0003t0001 a0002c0007t0001 a0002c0022t0001 a0002c0032t0001 a0002c0045t0001 a0003c0002t0001 a0004c0004t0001 a0005c0011t0001 a0006c0013t0001 a0007c0012t0001 a0009c0035t0001 a0013c0021t0001 a0014c0033t0001 a0025c0042t0001 a0028c0059t0001 a0031c0038t0001 a0032c0037t0005 a0034c0053t0001	a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0107 others(70): Show a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0183 a0001c0001t0001g0198 a0001c0005t0001g0011 a0001c0005t0001g0120 a0001c0005t0001g0194 a0001c0010t0001g0047 a0001c0010t0001g0171 a0001c0010t0001g0179 a0001c0010t0001g0181 a0001c0010t0001g0182 a0001c0028t0001g0172 a0001c0028t0001g0173 a0001c0036t0001g0193 a0001c0057t0001g0249 a0002c0003t0001g0016 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0028 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0247 a0002c0007t0001g0008 a0002c0007t0001g0009 a0002c0007t0001g0010 a0002c0007t0001g0070 a0002c0022t0001g0043 a0002c0022t0001g0044 a0002c0022t0001g0046 a0002c0032t0001g0032 a0002c0045t0001g0221 a0003c0002t0001g0012 a0003c0002t0001g0154 a0003c0002t0001g0165 a0004c0004t0001g0088 a0005c0011t0001g0228 a0005c0011t0001g0229 a0005c0011t0001g0232 a0005c0011t0001g0233 a0005c0011t0001g0234 a0005c0011t0001g0235 a0006c0013t0001g0082 a0007c0012t0001g0209 a0007c0012t0001g0216 a0009c0035t0001g0202 a0009c0035t0001g0204 a0013c0021t0001g0243 a0013c0021t0001g0244 a0013c0021t0001g0245 a0014c0033t0001g0230 a0014c0033t0001g0231 a0025c0042t0001g0065 a0028c0059t0001g0027 a0031c0038t0001g0207 a0032c0037t0005g0030 a0034c0053t0001g0236	73	89	0.8202	-15	c.126 others(36): Show c.12649-1047_12649-1033delTTTTGTTTTGTTTTG		DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	87/88					INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2I1_chr7_158851558_158951189	158858946	CCCTCCCC others(8): Show CCCTCCCCTCCCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp1 HG02647.hp2 others(3): Show HG02257.hp1 HG02280.hp1 HG02647.hp2 HG02723.hp1 HG03486.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0001 a0001c0001t0006 a0001c0001t0009	a0001c0001t0001g0006 a0001c0001t0006g0007 a0001c0001t0006g0008 others(3): Show a0001c0001t0001g0006 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0009g0115 a0001c0001t0009g0227 a0001c0001t0009g0228	6	245	0.0245	-15	c.15+ others(30): Show c.15+2224_15+2238delTTTCCTCCCCTCCCC		DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2LI1_chr2_43769039_43815010	43775854	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp1 HG02559.hp1 others(4): Show HG00642.hp1 HG01099.hp1 HG02559.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp1 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0007 a0002c0002t0002g0037 a0002c0002t0002g0038 others(3): Show a0002c0002t0002g0007 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0041 a0002c0002t0003g0040	7	40	0.1750	-15	c.9-9 others(26): Show c.9-912_9-898delTTTTTTTTTTTTTTT		DYNC2LI1	ENSG00000138036.18	transcript	ENST00000260605.12	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
DYNC2LI1_chr2_43769039_43815010	43807743	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02451.hp1 HG03139.hp2 others(2): Show HG01109.hp2 HG02451.hp1 HG03139.hp2 HG03579.hp2 NA20300.hp1	a0003 a0006 a0012 a0003 a0006 a0012	a0003c0003 a0006c0006 a0012c0011 a0003c0003 a0006c0006 a0012c0011	a0003c0003t0007 a0006c0006t0002 a0012c0011t0003 a0003c0003t0007 a0006c0006t0002 a0012c0011t0003	a0003c0003t0007g0070 a0003c0003t0007g0071 a0006c0006t0002g0242 others(2): Show a0003c0003t0007g0070 a0003c0003t0007g0071 a0006c0006t0002g0242 a0006c0006t0002g0243 a0012c0011t0003g0050	5	101	0.0495	-15	c.994 others(32): Show c.994-1946_994-1932delAAAAAAAAAAAAAAA		DYNC2LI1	ENSG00000138036.18	transcript	ENST00000260605.12	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
DYNLT1_chr6_158631474_158649743	158636061	ATATATAT others(8): Show ATATATATATTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	394	0.0025	-15	c.75 others(24): Show c.751_*765delAAAAAAATATATATA		DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding					412		chr6	TogoVar
DYNLT2B_chr3_196286219_196323240	196317167	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02602.hp2 HG03710.hp2 others(6): Show HG00408.hp1 HG02602.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp1 NA18952.hp1 NA18990.hp1 NA19090.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0149 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155	9	328	0.0274	-15	c.113 others(30): Show c.113+858_113+872delACACACACACACACA		DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4						chr3	TogoVar
DYRK1A_chr21_37361773_37531358	37479597	TTTGTTTT others(8): Show TTTGTTTTTGTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp1 HG02630.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0015 a0001c0001t0023g0018 a0001c0001t0023g0015 a0001c0001t0023g0018	2	348	0.0057	-15	c.301 others(32): Show c.301-1038_301-1024delGTTTTTGTTTTTGTT		DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37479604	TTGTTTTT others(8): Show TTGTTTTTGTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03486.hp2 HG03139.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0002 a0001c0001t0042g0130 a0001c0001t0042g0002 a0001c0001t0042g0130	2	348	0.0057	-15	c.301 others(32): Show c.301-1032_301-1018delGTTTTTGTTTTTTGT		DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK4_chr12_4557208_4618875	4570040	AAATAATA others(8): Show AAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02717.hp2 HG02818.hp2 others(4): Show HG02280.hp2 HG02717.hp2 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG03195.hp2 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0011 a0001c0001 a0001c0003 a0004c0011	a0001c0001t0001 a0001c0003t0001 a0004c0011t0001 a0001c0001t0001 a0001c0003t0001 a0004c0011t0001	a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0257 others(4): Show a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0003t0001g0254 a0001c0003t0001g0255 a0004c0011t0001g0258 a0004c0011t0001g0259	7	81	0.0864	-15	c.132 others(32): Show c.132+2017_132+2031delAATAATAATAATAAT		DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
DZANK1_chr20_18378367_18472030	18436314	GGCGCCTG others(8): Show GGCGCCTGTAGTCCCA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA19030.hp1 HG03041.hp1 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0007 a0003c0027 a0001c0007 a0003c0027	a0001c0007t0003 a0003c0027t0008 a0001c0007t0003 a0003c0027t0008	a0001c0007t0003g0341 a0003c0027t0008g0236 a0001c0007t0003g0341 a0003c0027t0008g0236	2	372	0.0054	-15	c.805 others(32): Show c.805-2564_805-2550delTGGGACTACAGGCGC		DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	8/20						chr20	TogoVar
DZIP1L_chr3_138056990_138120608	138106127	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0220 a0002c0002t0002g0220	1	131	0.0076	-15	c.-81 others(32): Show c.-81-2090_-81-2076delAAAAAAAAAAAAAAA		DZIP1L	ENSG00000158163.15	transcript	ENST00000327532.7	protein_coding	1/15						chr3	TogoVar
DZIP3_chr3_108584722_108699840	108603415	TCTGCTTC others(8): Show TCTGCTTCGTTATTAG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA20300.hp2 HG01884.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0023 a0001c0001t0002g0024	2	316	0.0063	-15	c.-72 others(32): Show c.-72-1916_-72-1902delCTTCGTTATTAGCTG		DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	1/32					INFO_REALIGN_3_PRIME	chr3	TogoVar
EAF2_chr3_121830209_121891526	121840494	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp1 HG01071.hp2 others(39): Show HG00140.hp1 HG01069.hp1 HG01071.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01496.hp2 HG02083.hp2 HG02148.hp2 HG02258.hp2 HG02280.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02647.hp1 HG02723.hp1 HG02738.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03225.hp1 HG03486.hp1 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18990.hp1 NA18997.hp2 NA18999.hp1 NA19063.hp2 NA19066.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0020 others(31): Show a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108	42	316	0.1329	-15	c.107 others(32): Show c.107-3946_107-3932delAAGAAAAAAAAAAAA		EAF2	ENSG00000145088.9	transcript	ENST00000273668.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
EAF2_chr3_121830209_121891526	121841504	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03225.hp2 HG01891.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	2	191	0.0105	-15	c.107 others(32): Show c.107-2924_107-2910delAAAAAAAAAAAAAAA		EAF2	ENSG00000145088.9	transcript	ENST00000273668.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
EAPP_chr14_34510938_34544701	34544088	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	357	0.0028	-15	c.-44 others(26): Show c.-4475_-4461delCACACACACACACAC		EAPP	ENSG00000129518.10	transcript	ENST00000250454.8	protein_coding					4388		chr14	TogoVar
EBAG9_chr8_109535173_109570996	109543135	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA19043.hp1 HG00733.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0083 a0001c0001t0002g0084	2	129	0.0155	-15	c.-16 others(32): Show c.-16+2691_-16+2705delTTTTTTTTTTTTTTT		EBAG9	ENSG00000147654.16	transcript	ENST00000337573.10	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr8	TogoVar
EBF1_chr5_158690920_159104916	158969904	GAAAGAAA others(8): Show GAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	193	0.0052	-15	c.554 others(36): Show c.554+103477_554+103491delTTTCTTTCTTTCTTT		EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15						chr5	TogoVar
EBF3_chr10_129830233_129969274	129833331	CACTGAGT others(8): Show CACTGAGTATAAAGCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	336	0.0030	-15	c.45 others(26): Show c.4597_*4611delTGCTTTATACTCAGT		EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding					1901		chr10	TogoVar
ECE1_chr1_21212250_21295463	21253034	ATTATTTT others(8): Show ATTATTTTATTTTATT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02647.hp2 HG03130.hp1 HG01884.hp2 HG02647.hp2 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0017 a0001c0002 a0001c0017	a0001c0002t0012 a0001c0017t0020 a0001c0002t0012 a0001c0017t0020	a0001c0002t0012g0109 a0001c0002t0012g0241 a0001c0017t0020g0242 a0001c0002t0012g0109 a0001c0002t0012g0241 a0001c0017t0020g0242	3	110	0.0273	-15	c.102 others(34): Show c.1020+2898_1020+2912delAATAAAATAAAATAA		ECE1	ENSG00000117298.16	transcript	ENST00000374893.11	protein_coding	8/18						chr1	TogoVar
ECE2_chr3_184271022_184298031	184274775	GAAAGAAA others(8): Show GAAAGAAAGAAAGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00438.hp2 others(27): Show HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG01106.hp2 HG01433.hp2 HG01884.hp1 HG01978.hp1 HG02300.hp1 HG02602.hp1 HG02976.hp1 HG04228.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18951.hp2 NA18960.hp1 NA18975.hp2 NA18978.hp1 NA18980.hp1 NA18985.hp2 NA18993.hp2 NA19005.hp2 NA19009.hp2 NA19079.hp2 NA19081.hp1 NA19085.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0002c0003t0002	a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0036 others(9): Show a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0036 a0001c0002t0001g0039 a0001c0002t0001g0124 a0001c0002t0001g0137 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0002g0009 a0001c0002t0003g0001 a0002c0003t0002g0072 a0002c0003t0002g0076	30	393	0.0763	-15	c.-13 others(26): Show c.-1378_-1364delAAAGAAAGAAAGAGA		ECE2	ENSG00000145194.19	transcript	ENST00000404464.8	protein_coding					1246		chr3	TogoVar
ECE2_chr3_184271022_184298031	184296561	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01109.hp2 HG02572.hp2 others(6): Show HG01071.hp2 HG01109.hp2 HG02572.hp2 HG03098.hp2 HG04199.hp2 NA18961.hp2 NA18978.hp1 NA19054.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0069 a0001c0001t0002g0070 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0069 a0001c0001t0002g0070 a0001c0002t0001g0001 a0001c0002t0001g0038 a0001c0002t0001g0119 a0001c0002t0001g0145	9	70	0.1286	-15	c.43 others(26): Show c.4324_*4338delAAAAAAAAAAAAAAA		ECE2	ENSG00000145194.19	transcript	ENST00000404464.8	protein_coding					3531		chr3	TogoVar
ECH1_chr19_38810422_38836794	38836598	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0248 a0002c0002t0001g0248	1	105	0.0095	-15	c.-48 others(26): Show c.-4841_-4827delTTTTTTTTTTTTTTT		ECH1	ENSG00000104823.9	transcript	ENST00000221418.9	protein_coding					4805		chr19	TogoVar
ECHDC2_chr1_52890910_52926740	52910352	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	16	0.0625	-15	c.277 others(32): Show c.277+1199_277+1213delAAAAAAAAAAAAAAA		ECHDC2	ENSG00000121310.17	transcript	ENST00000371522.9	protein_coding	3/9						chr1	TogoVar
ECHDC3_chr10_11737382_11769070	11742969	GGTCACTG others(8): Show GGTCACTGGGCCTCCA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA20129.hp1 HG03579.hp1 NA20129.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0222 a0008c0011t0001g0223 a0008c0011t0001g0222 a0008c0011t0001g0223	2	418	0.0048	-15	c.170 others(30): Show c.170+227_170+241delACTGGGCCTCCAGTC		ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr10	TogoVar
ECHDC3_chr10_11737382_11769070	11749773	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00735.hp1 HG01109.hp1 others(49): Show HG00438.hp2 HG00735.hp1 HG01109.hp1 HG01168.hp2 HG01175.hp1 HG01433.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG02056.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG02886.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp2 HG03540.hp2 HG03831.hp1 HG04184.hp1 HG06807.hp2 NA18906.hp1 NA18944.hp1 NA18963.hp1 NA18964.hp1 NA18977.hp1 NA18982.hp2 NA18991.hp1 NA19000.hp2 NA19006.hp1 NA19060.hp2 NA19067.hp1 NA19068.hp1 NA19078.hp2 NA19084.hp2 NA19086.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0018 a0002c0010 a0003c0004 a0005c0009	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0001c0018t0001 a0002c0010t0003 a0003c0004t0001 a0005c0009t0001	a0001c0001t0001g0024 a0001c0001t0001g0042 a0001c0001t0001g0043 others(34): Show a0001c0001t0001g0024 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0004g0137 a0001c0002t0002g0016 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0003t0001g0011 a0001c0003t0001g0056 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0005t0001g0032 a0001c0005t0001g0091 a0001c0018t0001g0172 a0002c0010t0003g0029 a0002c0010t0003g0174 a0003c0004t0001g0090 a0005c0009t0001g0016	52	57	0.9123	-15	c.390 others(30): Show c.390+207_390+221delTTTTTTTTTTTTTTT		ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr10	TogoVar
ECHS1_chr10_133357485_133378354	133375529	AAAAAGCC others(8): Show AAAAAGCCCAACAGTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG03209.hp2 HG03540.hp1 HG02615.hp1 HG03209.hp2 HG03540.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0037 a0003c0004t0002g0162 a0003c0004t0002g0037 a0003c0004t0002g0162	3	352	0.0085	-15	c.-22 others(26): Show c.-2211_-2197delGACTGTTGGGCTTTT		ECHS1	ENSG00000127884.5	transcript	ENST00000368547.4	protein_coding					2176		chr10	TogoVar
ECRG4_chr2_106060688_106083155	106071322	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0005 a0003c0006t0005	a0003c0006t0005g0055 a0003c0006t0005g0055	1	33	0.0303	-15	c.80- others(28): Show c.80-506_80-492delAAAAAAAAAAAAAAA		ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
ECRG4_chr2_106060688_106083155	106071338	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA19072.hp1 HG02165.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0191 a0001c0001t0001g0123 a0001c0001t0001g0191	2	432	0.0046	-15	c.80- others(28): Show c.80-502_80-488delAAAAAAAAAAAGAAA		ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
ECSCR_chr5_139443560_139467743	139446542	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	368	0.0027	-15	c.23 others(26): Show c.2343_*2357delGAAAGAAAGAAAGAA		ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding					2017		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139458500	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(122): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00639.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18962.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18974.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19006.hp1 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19089.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(39): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0002g0079	125	133	0.9399	-15	c.62- others(28): Show c.62-332_62-318delTTTTTTTTTTTTTTT		ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding	1/9						chr5	TogoVar
ECSIT_chr19_11500929_11534134	11530873	ATATTTTA others(8): Show ATATTTTATTTTATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	226	0.0044	-15	c.-18 others(26): Show c.-1850_-1836delAAATAAAATAAAATA		ECSIT	ENSG00000130159.15	transcript	ENST00000270517.12	protein_coding					1740		chr19	TogoVar
ECT2L_chr6_138791087_138909070	138847355	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0012 a0012	a0012c0026 a0012c0026	a0012c0026t0002 a0012c0026t0002	a0012c0026t0002g0305 a0012c0026t0002g0305	1	44	0.0227	-15	c.903 others(30): Show c.903+697_903+711delTTTTTTTTTTTTTTT		ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	8/21					INFO_REALIGN_3_PRIME	chr6	TogoVar

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