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
DYM_chr18_49031387_49465645	49252216	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01106.hp2 HG01361.hp2 others(11): Show HG00099.hp2 HG01106.hp2 HG01361.hp2 HG01943.hp2 HG02083.hp2 HG03209.hp2 HG03486.hp1 HG04204.hp1 NA18952.hp1 NA18955.hp2 NA18959.hp2 NA18975.hp1 NA18992.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0018 a0001c0001t0019 a0001c0003t0027	a0001c0001t0002g0165 a0001c0001t0002g0183 a0001c0001t0002g0184 others(11): Show a0001c0001t0002g0165 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0003g0215 a0001c0001t0004g0129 a0001c0001t0004g0139 a0001c0001t0005g0262 a0001c0001t0006g0172 a0001c0001t0006g0179 a0001c0001t0007g0106 a0001c0001t0018g0143 a0001c0001t0019g0167 a0001c0003t0027g0277	14	22	0.6364	15	c.146 others(34): Show c.1460+4779_1460+4793dupTTTTTTTTTTTTTTT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	13/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49317597	C C	CTCTCTCT others(8): Show CTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01256.hp2 HG01258.hp2 others(1): Show HG00408.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0017 others(1): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0017 a0001c0001t0021	a0001c0001t0002g0287 a0001c0001t0010g0275 a0001c0001t0017g0288 others(1): Show a0001c0001t0002g0287 a0001c0001t0010g0275 a0001c0001t0017g0288 a0001c0001t0021g0229	4	173	0.0231	15	c.763 others(34): Show c.763+14266_763+14267insAGAGAGAGAGAGAGA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49317636	A A	ATCCTCTC others(8): Show ATCCTCTCCTCTCCTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG01074.hp1 others(27): Show HG00408.hp1 HG00621.hp2 HG01074.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG02004.hp2 HG02027.hp1 HG02056.hp2 HG02083.hp2 HG02129.hp1 HG02145.hp2 HG02300.hp1 HG02683.hp2 HG02895.hp1 HG03041.hp1 HG03225.hp2 HG04204.hp1 NA18943.hp2 NA18946.hp2 NA18954.hp1 NA18979.hp2 NA18982.hp2 NA18992.hp2 NA18995.hp2 NA19010.hp1 NA19060.hp2 NA19064.hp1 NA19077.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0177 a0001c0001t0001g0249 a0001c0001t0002g0113 others(27): Show a0001c0001t0001g0177 a0001c0001t0001g0249 a0001c0001t0002g0113 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0174 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0202 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0003g0115 a0001c0001t0003g0182 a0001c0001t0003g0188 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0132 a0001c0001t0004g0138 a0001c0001t0004g0141 a0001c0001t0005g0156	30	264	0.1136	15	c.763 others(34): Show c.763+14227_763+14228insGAGGAGAGGAGAGGA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49432329	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0138 a0001c0001t0004g0138	1	168	0.0060	15	c.-53 others(32): Show c.-53-1897_-53-1883dupTTTTTTTTTTTTTTT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYNC1H1_chr14_101959573_102061443	101961732	T T	TTTATTAT others(8): Show TTTATTATTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA19030.hp1 NA18947.hp1 NA19030.hp1	a0001 a0001	a0001c0006 a0001c0025 a0001c0006 a0001c0025	a0001c0006t0007 a0001c0025t0041 a0001c0006t0007 a0001c0025t0041	a0001c0006t0007g0263 a0001c0025t0041g0245 a0001c0006t0007g0263 a0001c0025t0041g0245	2	109	0.0183	15	c.-29 others(26): Show c.-2960_-2959insTTATTATTATTATTA	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding		2840		chr14	TogoVar
DYNC1I1_chr7_95767554_96103424	95954915	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01433.hp2 HG03669.hp1 HG00323.hp2 HG01433.hp2 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0172 a0001c0003t0001g0017 a0001c0003t0001g0202 a0001c0002t0001g0172 a0001c0003t0001g0017 a0001c0003t0001g0202	3	10	0.3000	15	c.491 others(34): Show c.491-22588_491-22574dupAAAAAAAAAAAAAAA	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1LI1_chr3_32520974_32575858	32532480	A A	ATGTGTAT others(8): Show ATGTGTATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0258 a0001c0001t0005g0258	1	275	0.0036	15	c.108 others(32): Show c.1080+505_1080+506insATATATATATACACA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	8/12			chr3	TogoVar
DYNC1LI1_chr3_32520974_32575858	32537926	A A	ATATTATA others(8): Show ATATTATATATATAAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	327	0.0031	15	c.739 others(30): Show c.739-823_739-822insATTATATATATAATA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	5/12			chr3	TogoVar
DYNC1LI1_chr3_32520974_32575858	32537927	A A	ATATATAT others(8): Show ATATATATATATAATT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp2 HG01168.hp2 others(8): Show HG00280.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01361.hp2 HG02698.hp1 HG02886.hp2 HG03017.hp1 HG03130.hp2 HG03239.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0015	a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0062 others(8): Show a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0005g0078 a0001c0001t0005g0079 a0001c0001t0005g0258 a0001c0001t0014g0058 a0001c0001t0015g0057	11	294	0.0374	15	c.739 others(30): Show c.739-824_739-823insAATTATATATATATA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	5/12			chr3	TogoVar
DYNC1LI1_chr3_32520974_32575858	32537937	A A	AATTTATA others(8): Show AATTTATATATATAAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA19043.hp2 HG02970.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0076 a0001c0001t0004g0077	2	298	0.0067	15	c.739 others(30): Show c.739-834_739-833insATTATATATATAAAT	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	5/12			chr3	TogoVar
DYNC2H1_chr11_103104426_103484863	103291445	A A	AAATAAAT others(8): Show AAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0032 a0032	a0032c0037 a0032c0037	a0032c0037t0005 a0032c0037t0005	a0032c0037t0005g0030 a0032c0037t0005g0030	1	214	0.0047	15	c.110 others(36): Show c.11095+3843_11095+3857dupTAAATAAATAAATAA	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	75/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103446037	T T	TTTGTTGT others(8): Show TTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0028 a0028	a0028c0059 a0028c0059	a0028c0059t0001 a0028c0059t0001	a0028c0059t0001g0027 a0028c0059t0001g0027	1	103	0.0097	15	c.124 others(36): Show c.12457-9131_12457-9117dupGTTGTTGTTGTTGTT	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	85/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103483022	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 NA20300.hp1 HG01433.hp2 NA20300.hp1	a0002 a0007 a0002 a0007	a0002c0009 a0007c0012 a0002c0009 a0007c0012	a0002c0009t0001 a0007c0012t0001 a0002c0009t0001 a0007c0012t0001	a0002c0009t0001g0262 a0007c0012t0001g0209 a0002c0009t0001g0262 a0007c0012t0001g0209	2	33	0.0606	15	c.37 others(26): Show c.3769_*3770insAAAAAAAAAAAAAAA	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding		3160		chr11	TogoVar
DYNC2I1_chr7_158851558_158951189	158858946	C C	CCCTCCCC others(8): Show CCCTCCCCTCCCCTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00733.hp1 others(23): Show HG00140.hp2 HG00408.hp1 HG00733.hp1 HG01071.hp2 HG01175.hp2 HG01255.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG02015.hp1 HG02055.hp2 HG02155.hp1 HG02698.hp2 HG02976.hp2 HG03209.hp2 HG03491.hp1 HG03491.hp2 HG03834.hp2 HG04184.hp2 HG04228.hp2 NA18964.hp2 NA19043.hp2 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0010 a0003c0011 others(2): Show a0003c0003 a0003c0010 a0003c0011 a0003c0027 a0003c0029	a0003c0003t0004 a0003c0003t0007 a0003c0010t0011 others(3): Show a0003c0003t0004 a0003c0003t0007 a0003c0010t0011 a0003c0011t0004 a0003c0027t0022 a0003c0029t0004	a0003c0003t0004g0237 a0003c0003t0004g0238 a0003c0003t0004g0241 others(23): Show a0003c0003t0004g0237 a0003c0003t0004g0238 a0003c0003t0004g0241 a0003c0003t0004g0243 a0003c0003t0004g0244 a0003c0003t0004g0245 a0003c0003t0004g0246 a0003c0003t0004g0251 a0003c0003t0004g0253 a0003c0003t0004g0254 a0003c0003t0004g0255 a0003c0003t0004g0256 a0003c0003t0004g0257 a0003c0003t0004g0258 a0003c0003t0004g0262 a0003c0003t0004g0264 a0003c0003t0004g0265 a0003c0003t0004g0266 a0003c0003t0007g0240 a0003c0003t0007g0248 a0003c0010t0011g0252 a0003c0010t0011g0261 a0003c0011t0004g0247 a0003c0011t0004g0250 a0003c0027t0022g0263 a0003c0029t0004g0249	26	265	0.0981	15	c.15+ others(30): Show c.15+2224_15+2238dupTTTCCTCCCCTCCCC	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158937622	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19030.hp2 NA19043.hp2 HG02976.hp2 NA19030.hp2 NA19043.hp2	a0003 a0004 a0003 a0004	a0003c0010 a0004c0004 a0003c0010 a0004c0004	a0003c0010t0011 a0004c0004t0001 a0003c0010t0011 a0004c0004t0001	a0003c0010t0011g0252 a0003c0010t0011g0261 a0004c0004t0001g0180 a0003c0010t0011g0252 a0003c0010t0011g0261 a0004c0004t0001g0180	3	120	0.0250	15	c.277 others(34): Show c.2778+3086_2778+3087insAAAAAAAAAAAAAAA	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I2_chr9_128628653_128661847	128649705	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0284 a0001c0003t0001g0284	1	363	0.0028	15	c.186 others(32): Show c.186+6835_186+6836insGTTTTTTTTTTTTTT	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
DYNC2I2_chr9_128628653_128661847	128655335	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03486.hp1 HG03130.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0291 a0001c0001t0001g0165 a0001c0001t0001g0291	2	21	0.0952	15	c.186 others(32): Show c.186+1191_186+1205dupTTTTTTTTTTTTTTT	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
DYNC2LI1_chr2_43769039_43815010	43775854	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0115 a0002c0002t0004g0115	1	34	0.0294	15	c.9-9 others(26): Show c.9-912_9-898dupTTTTTTTTTTTTTTT	DYNC2LI1	ENSG00000138036.18	transcript	ENST00000260605.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(8): Show ATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	185	0.0054	15	c.75 others(24): Show c.757_*758insATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(8): Show ATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	185	0.0054	15	c.75 others(24): Show c.757_*758insAAAAATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(8): Show ATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	185	0.0054	15	c.75 others(24): Show c.757_*758insAAAAAAATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636070	T T	TATATATA others(8): Show TATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	326	0.0031	15	c.75 others(24): Show c.756_*757insTATATATATATATAT	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		403		chr6	TogoVar
DYNLT2B_chr3_196286219_196323240	196316908	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	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	318	0.0283	15	c.114 others(30): Show c.114-678_114-677insCACACACACACACAC	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
DYNLT2B_chr3_196286219_196323240	196317480	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	328	0.0030	15	c.113 others(30): Show c.113+545_113+559dupCACACACACACACAC	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
DYNLT2B_chr3_196286219_196323240	196317907	G G	GCGGCCTC others(8): Show GCGGCCTCCCGCCTCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	328	0.0030	15	c.113 others(30): Show c.113+118_113+132dupGGAGGCGGGAGGCCG	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
DYRK1A_chr21_37361773_37531358	37440130	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp1 HG01361.hp1 others(10): Show HG01074.hp2 HG01081.hp1 HG01361.hp1 HG01516.hp2 HG01884.hp1 HG02976.hp2 HG03710.hp1 HG04204.hp2 NA18954.hp1 NA19062.hp1 NA19064.hp1 NA19078.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0047 a0001c0001t0093 a0001c0001t0111 a0001c0001t0135 a0001c0002t0028	a0001c0001t0001g0051 a0001c0001t0001g0093 a0001c0001t0001g0097 others(10): Show a0001c0001t0001g0051 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0004g0176 a0001c0001t0010g0332 a0001c0001t0047g0014 a0001c0001t0093g0250 a0001c0001t0111g0151 a0001c0001t0135g0235 a0001c0002t0028g0326 a0001c0002t0028g0327	13	78	0.1667	15	c.10+ others(32): Show c.10+19755_10+19769dupTTTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37454085	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0142 a0001c0001t0007g0142	1	35	0.0286	15	c.11- others(32): Show c.11-18588_11-18574dupTTTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37501166	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0158 a0001c0001t0016 a0001c0001t0158	a0001c0001t0016g0024 a0001c0001t0016g0025 a0001c0001t0158g0296 a0001c0001t0016g0024 a0001c0001t0016g0025 a0001c0001t0158g0296	3	236	0.0127	15	c.121 others(34): Show c.1213-4108_1213-4094dupTTTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37519741	T T	TTTTGTTT others(8): Show TTTTGTTTTTTTTTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0056 a0001c0003t0056	a0001c0003t0056g0315 a0001c0003t0056g0315	1	348	0.0029	15	c.72 others(26): Show c.7213_*7214insGTTTTTTTTTTGTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	12/12	7214	INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37519743	T T	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0112 a0001c0001t0054g0112	1	216	0.0046	15	c.72 others(26): Show c.7216_*7217insGTTTTGTTTTGTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	12/12	7217	INFO_REALIGN_3_PRIME	chr21	TogoVar
DYSF_chr2_71448561_71691763	71617913	T T	TGTGTTTG others(8): Show TGTGTTTGTGGTAGAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03471.hp2 HG03579.hp1 HG02717.hp1 HG03471.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0001c0034 a0002c0021 a0001c0007 a0001c0034 a0002c0021	a0001c0007t0002 a0001c0034t0001 a0002c0021t0001 a0001c0007t0002 a0001c0034t0001 a0002c0021t0001	a0001c0007t0002g0142 a0001c0034t0001g0092 a0002c0021t0001g0086 a0001c0007t0002g0142 a0001c0034t0001g0092 a0002c0021t0001g0086	3	190	0.0158	15	c.441 others(34): Show c.4410+4507_4410+4508insTTGTGGTAGAGGTGT	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71617913	T T	TGTGTTTG others(8): Show TGTGTTTGTGGTAGAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03471.hp2 HG03579.hp2 HG02717.hp1 HG03471.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0001c0037 a0002c0021 a0001c0007 a0001c0037 a0002c0021	a0001c0007t0001 a0001c0037t0001 a0002c0021t0002 a0001c0007t0001 a0001c0037t0001 a0002c0021t0002	a0001c0007t0001g0139 a0001c0037t0001g0044 a0002c0021t0002g0149 a0001c0007t0001g0139 a0001c0037t0001g0044 a0002c0021t0002g0149	3	206	0.0146	15	c.446 others(34): Show c.4465-2630_4465-2629insTTGTGGTAGAGGTGT	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYTN_chr2_206646621_206723396	206721150	C C	CAATAATA others(8): Show CAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01261.hp1 HG02148.hp1 others(20): Show HG01175.hp1 HG01261.hp1 HG02148.hp1 HG02300.hp1 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG03486.hp1 HG03942.hp2 NA18906.hp1 NA18955.hp2 NA18956.hp2 NA18965.hp1 NA18971.hp2 NA18989.hp1 NA18991.hp1 NA18993.hp1 NA18998.hp1 NA19030.hp2 NA19054.hp1 NA19057.hp2 NA19064.hp2 NA19075.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0006c0008	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0006c0008t0001	a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 others(19): Show a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0002c0002t0001g0347 a0002c0002t0001g0350 a0003c0003t0001g0213 a0003c0003t0001g0216 a0006c0008t0001g0007	23	175	0.1314	15	c.-28 others(26): Show c.-2886_-2872dupATTATTATTATTATT	DYTN	ENSG00000232125.5	transcript	ENST00000452335.2	protein_coding		2755		chr2	TogoVar
DZANK1_chr20_18378367_18472030	18465406	A A	AATGTGCA others(8): Show AATGTGCACTTATAGC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0340 a0001c0001t0002g0340	1	3	0.3333	15	c.-19 others(28): Show c.-19-30_-19-29insGCTATAAGTGCACAT	DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	1/20			chr20	TogoVar
DZIP3_chr3_108584722_108699840	108697439	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02257.hp1 HG01884.hp2 HG02055.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0023	3	21	0.1429	15	c.40 others(26): Show c.4086_*4087insAAAAAAAAAAAAAAA	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding		2600		chr3	TogoVar
E2F3_chr6_20396879_20498714	20424250	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03927.hp1 HG03927.hp2 HG02055.hp1 HG03927.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0120 a0001c0001t0001g0271 a0001c0001t0002g0198 a0001c0001t0001g0120 a0001c0001t0001g0271 a0001c0001t0002g0198	3	332	0.0090	15	c.393 others(34): Show c.393+21625_393+21626insGTGTGTGTGTGTGTG	E2F3	ENSG00000112242.16	transcript	ENST00000346618.8	protein_coding	1/6			chr6	TogoVar
E2F5_chr8_85172154_85219518	85184824	C C	CAAGGAGA others(8): Show CAAGGAGAACTATAAA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0179 a0001c0002t0001g0179	1	334	0.0030	15	c.234 others(32): Show c.234+7171_234+7185dupAAGGAGAACTATAAA	E2F5	ENSG00000133740.11	transcript	ENST00000416274.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
E2F6_chr2_11439375_11471161	11463948	C C	CGGGGGGG others(8): Show CGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	146	0.0068	15	c.108 others(32): Show c.108+1823_108+1824insCCCCCCCCCCCCCCC	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding	1/6			chr2	TogoVar
E2F6_chr2_11439375_11471161	11468851	A A	AATTATAT others(8): Show AATTATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG01074.hp2 others(4): Show HG00738.hp1 HG01069.hp2 HG01074.hp2 HG01361.hp2 HG02615.hp1 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0030 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0002g0140	7	310	0.0226	15	c.-29 others(26): Show c.-2973_-2972insATATATATATATAAT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2691		chr2	TogoVar
EAF2_chr3_121830209_121891526	121840515	A A	AAAAAAAA others(8): Show AAAAAAAACAAAAAAC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	226	0.0044	15	c.107 others(32): Show c.107-3932_107-3931insACAAAAAACAAAAAA	EAF2	ENSG00000145088.9	transcript	ENST00000273668.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
EBAG9_chr8_109535173_109570996	109538047	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG02723.hp1 others(3): Show HG01884.hp1 HG02486.hp1 HG02723.hp1 HG04184.hp1 NA18961.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0037 a0001c0001t0001g0133 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0037 a0001c0001t0001g0133 a0001c0001t0002g0018 a0001c0001t0002g0032	6	137	0.0438	15	c.-24 others(26): Show c.-2430_-2429insTTTTTTTTTTTTTTT	EBAG9	ENSG00000147654.16	transcript	ENST00000337573.10	protein_coding		2125		chr8	TogoVar
EBF1_chr5_158690920_159104916	159090807	G G	GTAATAAT others(8): Show GTAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03710.hp2 HG02976.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0087 a0001c0001t0012 a0001c0001t0087	a0001c0001t0012g0021 a0001c0001t0087g0193 a0001c0001t0012g0021 a0001c0001t0087g0193	2	144	0.0139	15	c.411 others(32): Show c.411+4798_411+4812dupTTATTATTATTATTA	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	4/15			chr5	TogoVar
EBF2_chr8_25836725_26050413	25986001	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02280.hp2 others(6): Show HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02572.hp1 HG02717.hp2 HG03209.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0027 a0001c0001t0036 a0001c0002t0003 others(5): Show a0001c0001t0027 a0001c0001t0036 a0001c0002t0003 a0001c0002t0011 a0001c0002t0016 a0001c0004t0003 a0002c0003t0005 a0002c0003t0035	a0001c0001t0027g0103 a0001c0001t0036g0159 a0001c0002t0003g0218 others(6): Show a0001c0001t0027g0103 a0001c0001t0036g0159 a0001c0002t0003g0218 a0001c0002t0011g0199 a0001c0002t0011g0219 a0001c0002t0016g0198 a0001c0004t0003g0217 a0002c0003t0005g0063 a0002c0003t0035g0157	9	10	0.9000	15	c.551 others(34): Show c.551+47069_551+47083dupTTTTTTTTTTTTTTT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	26001385	T T	TGAAGACA others(8): Show TGAAGACATCTATCAA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0057 a0001c0002t0023g0057	1	218	0.0046	15	c.551 others(34): Show c.551+31685_551+31699dupTTGATAGATGTCTTC	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	26005261	A A	ATAAATAT others(8): Show ATAAATATTTTATTAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19030.hp1 HG03130.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0002g0033 a0001c0005t0001g0034 a0001c0001t0002g0033 a0001c0005t0001g0034	2	218	0.0092	15	c.551 others(34): Show c.551+27823_551+27824insATAATAAAATATTTA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	26005285	A A	ATTATATG others(8): Show ATTATATGTATTATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0195 a0001c0002t0003g0195	1	208	0.0048	15	c.551 others(34): Show c.551+27799_551+27800insATATAATACATATAA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	26005343	T T	TTATATAT others(8): Show TTATATATTATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02922.hp2 HG02965.hp2 others(5): Show HG02572.hp1 HG02922.hp2 HG02965.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0003 a0001c0001t0018 a0001c0001t0036 others(5): Show a0001c0001t0003 a0001c0001t0018 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0002t0003 a0001c0004t0010 a0002c0003t0007	a0001c0001t0003g0208 a0001c0001t0018g0006 a0001c0001t0036g0159 others(5): Show a0001c0001t0003g0208 a0001c0001t0018g0006 a0001c0001t0036g0159 a0001c0001t0038g0161 a0001c0001t0039g0211 a0001c0002t0003g0218 a0001c0004t0010g0005 a0002c0003t0007g0215	8	218	0.0367	15	c.551 others(34): Show c.551+27741_551+27742insTATATATAATATATA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF4_chr20_2687780_2765108	2711148	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0231 a0001c0002t0001g0231	1	149	0.0067	15	c.557 others(32): Show c.557+1524_557+1538dupTAATAATAATAATAA	EBF4	ENSG00000088881.22	transcript	ENST00000609451.6	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
EBI3_chr19_4224523_4242528	4236518	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19030.hp1 HG01891.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	2	7	0.2857	15	c.538 others(30): Show c.538-407_538-393dupAAAAAAAAAAAAAAA	EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
EBNA1BP2_chr1_43159184_43177290	43163613	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01109.hp2 HG01169.hp2 others(10): Show HG01106.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01257.hp2 HG02602.hp1 HG02738.hp2 HG03540.hp1 HG03942.hp2 HG04199.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0004 a0002c0002t0002g0009 a0002c0002t0004g0013 a0002c0002t0002g0004 a0002c0002t0002g0009 a0002c0002t0004g0013	13	192	0.0677	15	c.82 others(24): Show c.829_*830insTTTTTTTTTTTTTTT	EBNA1BP2	ENSG00000117395.13	transcript	ENST00000236051.3	protein_coding		570		chr1	TogoVar

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