Joint Open Genome and Omics Platform (JoGo)

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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
DUSP26_chr8_33586330_33605023	33597882	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02280.hp2 HG03195.hp2 others(2): Show HG01433.hp1 HG02280.hp2 HG03195.hp2 NA18956.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0106 others(2): Show a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0136	5	420	0.0119	30	c.-76 others(45): Show c.-76-292_-76-291insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding	1/3			chr8	TogoVar
DUSP26_chr8_33586330_33605023	33604590	G G	GCATGAAT others(23): Show GCATGAATCATTCTCAAGCGACTCTCCTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	30	c.-50 others(41): Show c.-5003_-5002insGCCAGGAGAGTCGCTTGAGAATGATTCATG	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding		4568		chr8	TogoVar
DUSP29_chr10_75032472_75078642	75074317	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0017 a0003c0003t0001g0017	1	368	0.0027	30	c.-78 others(39): Show c.-784_-783insATATATATATATATATATATATATTTTTTT	DUSP29	ENSG00000188716.6	transcript	ENST00000338487.6	protein_coding		676		chr10	TogoVar
DUXA_chr19_57149021_57172485	57172002	C C	CGAGGGGG others(23): Show CGAGGGGGGGCGGGGGGCCGCGAGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	446	0.0022	30	c.-45 others(41): Show c.-4560_-4559insCGCCCCCCTCGCGGCCCCCCGCCCCCCCTC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4518		chr19	TogoVar
DVL1_chr1_1330278_1354418	1350986	G G	GGAGGGGG others(23): Show GGAGGGGGCCGCAGGAGCGACGGGGGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	344	0.0029	30	c.-19 others(41): Show c.-1922_-1921insACTCCCCCCCGTCGCTCCTGCGGCCCCCTC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1569		chr1	TogoVar
DYM_chr18_49031387_49465645	49145134	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA18992.hp2 HG00741.hp2 NA18992.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0002 a0005c0006t0006 a0001c0001t0002 a0005c0006t0006	a0001c0001t0002g0166 a0005c0006t0006g0157 a0001c0001t0002g0166 a0005c0006t0006g0157	2	290	0.0069	30	c.172 others(51): Show c.1728+18550_1728+18551insTTATATATATATATATATATATAT ATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	15/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49195916	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03688.hp1 HG03831.hp1 HG02071.hp1 HG03688.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0004 a0001c0003t0009g0006 a0001c0003t0009g0007 a0001c0003t0009g0004 a0001c0003t0009g0006 a0001c0003t0009g0007	3	290	0.0103	30	c.162 others(51): Show c.1625+13634_1625+13635insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	14/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49205996	T T	TTTTTTTG others(23): Show TTTTTTTGTTTTTTTTTTTTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02145.hp1 HG00738.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0240 a0001c0001t0011g0243 a0001c0001t0011g0240 a0001c0001t0011g0243	2	290	0.0069	30	c.162 others(49): Show c.1625+3554_1625+3555insCAAACAAACAAAAAAAAAAAAAACAA AAAA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	14/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49440498	T T	TATGACTA others(23): Show TATGACTATATATTATATATTTATATAATAC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19063.hp1 NA19079.hp2 NA19004.hp2 NA19063.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0071 a0001c0001t0003g0088 a0001c0001t0003g0089	3	290	0.0103	30	c.-53 others(49): Show c.-53-10052_-53-10051insGTATTATATAAATATATAATATATAG TCAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49440528	T T	TATGACTA others(23): Show TATGACTATATATTATATATTTATATAATAC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19060.hp1 NA19068.hp2 NA18947.hp2 NA19060.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0103 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0103	3	290	0.0103	30	c.-53 others(49): Show c.-53-10082_-53-10081insGTATTATATAAATATATAATATATAG TCAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49441018	T T	TATATATT others(23): Show TATATATTTATATATAATATATAAATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA20129.hp1 HG00408.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0197 a0001c0001t0002g0198	2	290	0.0069	30	c.-53 others(49): Show c.-53-10601_-53-10572dupTATATATTTATATATTATATATAAAT ATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTACATAT others(23): Show GTACATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0025 a0007c0019t0025	a0007c0019t0025g0264 a0007c0019t0025g0264	1	280	0.0036	30	c.130 others(49): Show c.13007-174_13007-173insCATATATATATATATATATATATATA TATA	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18952.hp2 NA18956.hp2 others(5): Show NA18939.hp2 NA18952.hp2 NA18956.hp2 NA18963.hp1 NA18965.hp2 NA18993.hp1 NA19000.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0038 a0001c0001t0002 a0001c0001t0038	a0001c0001t0002g0166 a0001c0001t0002g0178 a0001c0001t0002g0186 others(5): Show a0001c0001t0002g0166 a0001c0001t0002g0178 a0001c0001t0002g0186 a0001c0001t0002g0192 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0038g0198	8	280	0.0286	30	c.130 others(49): Show c.13007-175_13007-174insGTGTGTATATATATATATATATATAT ATAT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTGTGTGT others(23): Show GTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01099.hp1 HG03471.hp1 HG00597.hp2 HG01099.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0200 a0001c0001t0003g0216 a0001c0001t0003g0228 a0001c0001t0002g0200 a0001c0001t0003g0216 a0001c0001t0003g0228	3	280	0.0107	30	c.130 others(49): Show c.13007-175_13007-174insGTGTGTGTATATATATATATATATAT ATAT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01433.hp1 HG01257.hp2 HG01433.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0005 a0001c0018t0039 a0001c0018t0005 a0001c0018t0039	a0001c0018t0005g0235 a0001c0018t0039g0234 a0001c0018t0005g0235 a0001c0018t0039g0234	2	280	0.0071	30	c.130 others(49): Show c.13007-175_13007-174insGTGTGTGTGTATATATATATATATAT ATAT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1I1_chr7_95767554_96103424	95823952	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00639.hp1 others(8): Show HG00099.hp2 HG00438.hp2 HG00639.hp1 HG01106.hp2 HG01884.hp1 HG02071.hp2 HG02258.hp2 HG02809.hp1 HG03195.hp1 HG03579.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0041 a0001c0001t0001g0078 a0001c0001t0001g0083 others(8): Show a0001c0001t0001g0041 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0128 a0001c0001t0001g0158 a0001c0001t0001g0215 a0001c0002t0001g0070 a0001c0004t0001g0072	11	230	0.0478	30	c.315 others(47): Show c.315-4078_315-4077insATATATATATATATATATATATATATAT AT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	96100650	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	230	0.0044	30	c.30 others(41): Show c.3057_*3058insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding		2227		chr7	TogoVar
DYNC1LI1_chr3_32520974_32575858	32532485	G G	GTATGTGT others(23): Show GTATGTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0029 a0001c0001t0013g0029	1	336	0.0030	30	c.108 others(47): Show c.1080+500_1080+501insTATATATATATATATACACACACACACA TA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	8/12			chr3	TogoVar
DYNC2H1_chr11_103104426_103484863	103453615	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0002 a0002c0016t0002	a0002c0016t0002g0255 a0002c0016t0002g0255	1	262	0.0038	30	c.124 others(51): Show c.12457-1544_12457-1543insTATATATATATATATATATATATA TATATA	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	85/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2I1_chr7_158851558_158951189	158858946	C C	CCCTCCCC others(23): Show CCCTCCCCTCCCCTTTCCTCCCCTCCCCTTT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0260 a0003c0003t0007g0260	1	274	0.0037	30	c.15+ others(45): Show c.15+2209_15+2238dupTTTCCTCCCCTCCCCTTTCCTCCCCTCCCC	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I2_chr9_128628653_128661847	128650526	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0295 a0001c0005t0001g0295	1	368	0.0027	30	c.186 others(47): Show c.186+6014_186+6015insATATATATATATATATATATATATATAT AT	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
DYNLT1_chr6_158631474_158649743	158636051	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 NA18961.hp1 HG02080.hp2 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	396	0.0051	30	c.77 others(39): Show c.775_*776insTATATATATATATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		422		chr6	TogoVar
DYNLT2B_chr3_196286219_196323240	196308931	C C	CCATATCA others(23): Show CCATATCAGAGCAATTAAAAATCCCCCACAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	330	0.0030	30	c.248 others(47): Show c.248-1949_248-1920dupATGTGGGGGATTTTTAATTGCTCTGATA TG	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	2/4			chr3	TogoVar
DYNLT2B_chr3_196286219_196323240	196317389	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTTGTGTGGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00544.hp2 others(70): Show HG00323.hp1 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp2 HG02083.hp1 HG02129.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02273.hp1 HG02738.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18945.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18985.hp2 NA18986.hp1 NA18993.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19079.hp1 NA19085.hp1 NA19089.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(51): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0001g0141 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0002g0242	73	330	0.2212	30	c.113 others(45): Show c.113+650_113+651insCCACACACACACCACACAACACACACACAC	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
DYRK1A_chr21_37361773_37531358	37417506	C C	CTTTTCTT others(23): Show CTTTTCTTTTTCTTTTTCTTTTTCTTTTTCT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	350	0.0029	30	c.-76 others(47): Show c.-76-2765_-76-2764insCTTTTTCTTTTTCTTTTTCTTTTTCTTT TT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37440130	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0155 a0001c0001t0013g0155	1	350	0.0029	30	c.10+ others(47): Show c.10+19769_10+19770insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37479612	G G	GTTTTTGT others(23): Show GTTTTTGTTTTTGTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0037 a0001c0001t0006g0037	1	350	0.0029	30	c.301 others(47): Show c.301-1021_301-1020insGTTTTTGTTTTTTTTTTTTTTTTTTTTT TT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37519743	T T	TTTTTGTT others(23): Show TTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG01074.hp2 HG01081.hp1 others(10): Show HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01243.hp2 HG02080.hp1 HG02559.hp1 HG02818.hp1 HG02970.hp2 HG03453.hp2 HG03516.hp2 NA18981.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0020 a0001c0001t0021 a0001c0001t0027 others(4): Show a0001c0001t0020 a0001c0001t0021 a0001c0001t0027 a0001c0001t0077 a0001c0001t0137 a0001c0001t0172 a0001c0002t0028	a0001c0001t0020g0196 a0001c0001t0020g0198 a0001c0001t0020g0229 others(10): Show a0001c0001t0020g0196 a0001c0001t0020g0198 a0001c0001t0020g0229 a0001c0001t0021g0243 a0001c0001t0021g0245 a0001c0001t0021g0246 a0001c0001t0027g0331 a0001c0001t0027g0343 a0001c0001t0077g0342 a0001c0001t0137g0247 a0001c0001t0172g0244 a0001c0002t0028g0328 a0001c0002t0028g0329	13	350	0.0371	30	c.72 others(41): Show c.7216_*7217insGTTTTGTTTTGTTTTGTTTTGTTTTGTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	12/12	7217	INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK4_chr12_4557208_4618875	4575298	A A	ATTGTGTG others(23): Show ATTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03453.hp1 NA19009.hp1 HG01243.hp2 HG03453.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0029 a0001c0001 a0001c0002 a0001c0029	a0001c0001t0001 a0001c0002t0001 a0001c0029t0001 a0001c0001t0001 a0001c0002t0001 a0001c0029t0001	a0001c0001t0001g0077 a0001c0002t0001g0238 a0001c0029t0001g0344 a0001c0001t0001g0077 a0001c0002t0001g0238 a0001c0029t0001g0344	3	414	0.0073	30	c.132 others(47): Show c.132+7250_132+7251insTTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding	2/14			chr12	TogoVar
DYSF_chr2_71448561_71691763	71560417	G G	GCCCCAGC others(23): Show GCCCCAGCACAGGGCTCCGGCCCAGGCCCCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02109.hp1 HG02165.hp1 others(13): Show HG01099.hp1 HG02109.hp1 HG02165.hp1 HG02258.hp1 HG02280.hp1 HG02630.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03139.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp2 NA18906.hp2 NA20129.hp1 NA20805.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0007 a0015 a0018	a0001c0004 a0001c0005 a0001c0018 others(10): Show a0001c0004 a0001c0005 a0001c0018 a0001c0019 a0001c0031 a0001c0034 a0001c0047 a0001c0073 a0003c0082 a0004c0008 a0007c0028 a0015c0033 a0018c0059	a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 others(12): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0005t0001 a0001c0018t0001 a0001c0019t0002 a0001c0031t0001 a0001c0034t0001 a0001c0047t0002 a0001c0073t0001 a0003c0082t0003 a0004c0008t0001 a0007c0028t0004 a0015c0033t0001 a0018c0059t0001	a0001c0004t0001g0149 a0001c0004t0002g0024 a0001c0004t0003g0065 others(13): Show a0001c0004t0001g0149 a0001c0004t0002g0024 a0001c0004t0003g0065 a0001c0004t0003g0084 a0001c0005t0001g0056 a0001c0018t0001g0004 a0001c0019t0002g0165 a0001c0031t0001g0186 a0001c0034t0001g0092 a0001c0047t0002g0183 a0001c0073t0001g0005 a0003c0082t0003g0185 a0004c0008t0001g0032 a0007c0028t0004g0047 a0015c0033t0001g0064 a0018c0059t0001g0093	16	192	0.0833	30	c.216 others(49): Show c.2163-1331_2163-1330insAGCACAGGGCTCCGGCCCAGGCCCCC CCCC	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	22/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71560421	C C	CAGCACAG others(23): Show CAGCACAGGGCTCCGGCCCAGGCCCCCCCCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp1 HG03041.hp1 others(4): Show HG02615.hp2 HG02717.hp1 HG03041.hp1 HG03225.hp2 HG03453.hp2 NA18906.hp1 NA20300.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0007 a0001c0019 a0003c0062 others(1): Show a0001c0007 a0001c0019 a0003c0062 a0005c0060	a0001c0007t0001 a0001c0007t0002 a0001c0019t0001 others(2): Show a0001c0007t0001 a0001c0007t0002 a0001c0019t0001 a0003c0062t0001 a0005c0060t0002	a0001c0007t0001g0063 a0001c0007t0002g0014 a0001c0007t0002g0016 others(4): Show a0001c0007t0001g0063 a0001c0007t0002g0014 a0001c0007t0002g0016 a0001c0007t0002g0142 a0001c0019t0001g0044 a0003c0062t0001g0102 a0005c0060t0002g0143	7	192	0.0365	30	c.216 others(49): Show c.2163-1331_2163-1330insAGCACAGGGCTCCGGCCCAGGCCCCC CCCT	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	22/54			chr2	TogoVar
DYSF_chr2_71461699_71691763	71560417	G G	GCCCCAGC others(23): Show GCCCCAGCACAGGGCTCCGGCCCAGGCCCCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01261.hp2 HG02109.hp1 others(17): Show HG01099.hp1 HG01261.hp2 HG02109.hp1 HG02165.hp1 HG02258.hp2 HG02280.hp2 HG02630.hp1 HG02922.hp1 HG02965.hp1 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03669.hp1 NA18906.hp1 NA20129.hp2 NA20805.hp1	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0009 a0016 a0020 a0027	a0001c0004 a0001c0005 a0001c0019 others(13): Show a0001c0004 a0001c0005 a0001c0019 a0001c0032 a0001c0037 a0001c0048 a0001c0060 a0001c0074 a0001c0078 a0003c0088 a0004c0011 a0005c0034 a0009c0029 a0016c0036 a0020c0062 a0027c0059	a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 others(14): Show a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0019t0002 a0001c0032t0002 a0001c0037t0001 a0001c0048t0002 a0001c0060t0001 a0001c0074t0001 a0001c0078t0001 a0003c0088t0006 a0004c0011t0001 a0005c0034t0002 a0009c0029t0005 a0016c0036t0001 a0020c0062t0001 a0027c0059t0005	a0001c0004t0001g0032 a0001c0004t0003g0112 a0001c0004t0003g0113 others(17): Show a0001c0004t0001g0032 a0001c0004t0003g0112 a0001c0004t0003g0113 a0001c0004t0003g0134 a0001c0005t0001g0062 a0001c0005t0001g0087 a0001c0019t0002g0171 a0001c0032t0002g0193 a0001c0037t0001g0044 a0001c0048t0002g0190 a0001c0060t0001g0197 a0001c0074t0001g0094 a0001c0078t0001g0199 a0003c0088t0006g0192 a0004c0011t0001g0081 a0005c0034t0002g0153 a0009c0029t0005g0084 a0016c0036t0001g0115 a0020c0062t0001g0045 a0027c0059t0005g0117	20	208	0.0962	30	c.221 others(49): Show c.2217-1331_2217-1330insAGCACAGGGCTCCGGCCCAGGCCCCC CCCC	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	22/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71560421	C C	CAGCACAG others(23): Show CAGCACAGGGCTCCGGCCCAGGCCCCCCCCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp1 HG03041.hp2 others(4): Show HG02615.hp2 HG02717.hp1 HG03041.hp2 HG03225.hp1 HG03453.hp2 NA18906.hp2 NA20300.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0007 a0001c0019 a0003c0065 others(1): Show a0001c0007 a0001c0019 a0003c0065 a0006c0063	a0001c0007t0001 a0001c0007t0002 a0001c0007t0004 others(3): Show a0001c0007t0001 a0001c0007t0002 a0001c0007t0004 a0001c0019t0002 a0003c0065t0001 a0006c0063t0001	a0001c0007t0001g0139 a0001c0007t0002g0148 a0001c0007t0004g0020 others(4): Show a0001c0007t0001g0139 a0001c0007t0002g0148 a0001c0007t0004g0020 a0001c0007t0004g0022 a0001c0019t0002g0187 a0003c0065t0001g0110 a0006c0063t0001g0140	7	208	0.0337	30	c.221 others(49): Show c.2217-1331_2217-1330insAGCACAGGGCTCCGGCCCAGGCCCCC CCCT	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	22/55			chr2	TogoVar
DZIP3_chr3_108584722_108699840	108622880	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTGTGTG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0223	1	318	0.0031	30	c.376 others(47): Show c.376-1563_376-1562insCTCTCTCTCTCTCTCTCTCTCTCTGTGT GT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(23): Show ACACACACACACACACACACACACTCTCTCT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	318	0.0031	30	c.696 others(47): Show c.696+1880_696+1881insACACACACACACACACACACACTCTCTC TC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(23): Show ACACACACACACACACACACACATACACTCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0262 a0001c0002t0001g0262	1	318	0.0031	30	c.696 others(47): Show c.696+1880_696+1881insACACACACACACACACACACATACACTC TC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(23): Show ACACACACACACACACACACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	318	0.0031	30	c.696 others(47): Show c.696+1880_696+1881insACACACACACACACACACTCTCTCTCTC TC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(23): Show ACACACACACACACACACATACACTCTCTCT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0248 a0001c0002t0001g0248	1	318	0.0031	30	c.696 others(47): Show c.696+1880_696+1881insACACACACACACACACATACACTCTCTC TC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(23): Show ACACACACACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	318	0.0031	30	c.696 others(47): Show c.696+1880_696+1881insACACACACACACACACTCTCTCTCTCTC TC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(23): Show ACACACACACACACACATACACTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04199.hp1 HG04184.hp2 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0249 a0001c0002t0001g0270 a0001c0002t0001g0249 a0001c0002t0001g0270	2	318	0.0063	30	c.696 others(47): Show c.696+1880_696+1881insACACACACACACACATACACTCTCTCTC TC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(23): Show ACACACACACACACATACACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0306 a0001c0001t0003g0306	1	318	0.0031	30	c.696 others(47): Show c.696+1880_696+1881insACACACACACACATACACTCTCTCTCTC TC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(23): Show ACACACACACACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02300.hp1 HG02559.hp2 others(2): Show HG02148.hp1 HG02300.hp1 HG02559.hp2 NA18956.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0068 a0001c0001t0001g0075 others(2): Show a0001c0001t0001g0036 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0202	5	318	0.0157	30	c.696 others(47): Show c.696+1880_696+1881insACACACACACACTCTCTCTCTCTCTCTC TC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(23): Show ACACACACACTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	318	0.0031	30	c.696 others(47): Show c.696+1880_696+1881insACACACACTCTCTCTCTCTCTCTCTCTC TC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(23): Show ACACACACTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	318	0.0031	30	c.696 others(47): Show c.696+1880_696+1881insACACACTCTCTCTCTCTCTCTCTCTCTC TC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACGC others(23): Show ACACACGCACACATACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0247 a0001c0002t0001g0247	1	318	0.0031	30	c.696 others(47): Show c.696+1880_696+1881insACACGCACACATACACTCTCTCTCTCTC TC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACTC others(23): Show ACACACTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18906.hp1 HG03225.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0199 a0001c0001t0001g0200	2	318	0.0063	30	c.696 others(47): Show c.696+1880_696+1881insACACTCTCTCTCTCTCTCTCTCTCTCTC TC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
E2F1_chr20_33670477_33691385	33689719	G G	GTGCTAGG others(23): Show GTGCTAGGTGCTGGGGACACAGTTATAAGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	30	c.-34 others(41): Show c.-3456_-3455insTACTTATAACTGTGTCCCCAGCACCTAGCA	E2F1	ENSG00000101412.13	transcript	ENST00000343380.6	protein_coding		3335		chr20	TogoVar
E2F5_chr8_85172154_85219518	85180511	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0197 a0001c0002t0001g0197	1	336	0.0030	30	c.234 others(47): Show c.234+2872_234+2901dupATATATATATATATATATATATATATAT AT	E2F5	ENSG00000133740.11	transcript	ENST00000416274.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0057 a0001c0001t0008g0057	1	366	0.0027	30	c.-29 others(41): Show c.-2977_-2976insATATATATATATTTTTTTTTTTTTTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
EBF2_chr8_25836725_26050413	26005453	T T	TATTTTAT others(23): Show TATTTTATAAAATATAATATTATTTATAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	220	0.0046	30	c.551 others(49): Show c.551+27631_551+27632insTTTTATAAATAATATTATATTTTATA AAAT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar

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