Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DTNB_chr2_25372243_25678577	25432206	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	168	0.0060	-20	c.145 others(37): Show c.1457+660_1457+679delGTGTGTGTGTGTGTGTGTGT	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	14/20			chr2	TogoVar
DTNB_chr2_25372243_25678577	25523195	TCACTCAA others(13): Show TCACTCAAACCTATTTGCAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00438.hp2 others(37): Show HG00140.hp2 HG00280.hp2 HG00438.hp2 HG00544.hp2 HG00621.hp2 HG00735.hp1 HG01243.hp2 HG01346.hp2 HG01496.hp1 HG01981.hp2 HG02055.hp1 HG02080.hp1 HG02083.hp1 HG02148.hp1 HG02258.hp1 HG02293.hp1 HG02486.hp2 HG02523.hp2 HG02615.hp1 HG02965.hp2 HG02970.hp1 HG03139.hp1 HG03540.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 NA18951.hp2 NA18960.hp1 NA18971.hp2 NA18993.hp2 NA19000.hp1 NA19005.hp2 NA19011.hp1 NA19057.hp1 NA19065.hp1 NA19083.hp1 NA19088.hp1 NA19090.hp1 NA20752.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0004	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0004c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0036 a0001c0001t0001g0043 others(37): Show a0001c0001t0001g0003 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0076 a0001c0001t0001g0091 a0001c0001t0001g0110 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0002t0001g0002 a0001c0002t0001g0143 a0001c0002t0001g0151 a0001c0002t0001g0158 a0001c0002t0001g0159 a0002c0003t0001g0135 a0004c0004t0001g0060	40	168	0.2381	-20	c.100 others(39): Show c.1001+8258_1001+8277delTTTGCAAATAGGTTTGAGTG	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	9/20			chr2	TogoVar
DTWD2_chr5_118831074_118993547	118952544	TCAGTTAG others(13): Show TCAGTTAGGGCAGGAATTGGC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0236 a0001c0001t0032g0236	1	242	0.0041	-20	c.219 others(37): Show c.219-7915_219-7896delGCCAATTCCTGCCCTAACTG	DTWD2	ENSG00000169570.10	transcript	ENST00000510708.6	protein_coding	1/5			chr5	TogoVar
DTX3L_chr3_122559338_122580203	122562156	CTCTTTTC others(13): Show CTCTTTTCTTTTCTTTTCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01891.hp1 HG02055.hp2 others(7): Show HG00323.hp2 HG01891.hp1 HG02055.hp2 HG02145.hp2 HG02622.hp1 HG02922.hp1 HG03516.hp1 HG04204.hp2 HG06807.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0011 a0002c0002 others(2): Show a0001c0003 a0001c0011 a0002c0002 a0003c0005 a0003c0012	a0001c0003t0001 a0001c0003t0002 a0001c0011t0001 others(5): Show a0001c0003t0001 a0001c0003t0002 a0001c0011t0001 a0002c0002t0002 a0003c0005t0002 a0003c0005t0011 a0003c0005t0013 a0003c0012t0001	a0001c0003t0001g0002 a0001c0003t0002g0052 a0001c0011t0001g0112 others(5): Show a0001c0003t0001g0002 a0001c0003t0002g0052 a0001c0011t0001g0112 a0002c0002t0002g0039 a0003c0005t0002g0019 a0003c0005t0011g0019 a0003c0005t0013g0019 a0003c0012t0001g0113	10	472	0.0212	-20	c.-22 others(31): Show c.-2270_-2251delTCTTTTCTTTTCTTTTCTTT	DTX3L	ENSG00000163840.10	transcript	ENST00000296161.9	protein_coding		2181		chr3	TogoVar
DUOX1_chr15_45124994_45170574	45153493	AATGTGTG others(13): Show AATGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02280.hp1 NA18970.hp2 others(1): Show HG01070.hp2 HG02280.hp1 NA18970.hp2 NA18997.hp2	a0002 a0003 a0002 a0003	a0002c0005 a0003c0003 a0002c0005 a0003c0003	a0002c0005t0002 a0003c0003t0002 a0002c0005t0002 a0003c0003t0002	a0002c0005t0002g0142 a0003c0003t0002g0129 a0003c0003t0002g0255 others(1): Show a0002c0005t0002g0142 a0003c0003t0002g0129 a0003c0003t0002g0255 a0003c0003t0002g0293	4	386	0.0104	-20	c.352 others(35): Show c.3524+15_3524+34delATGTGTGTGTGTGTGTGTGT	DUOX1	ENSG00000137857.18	transcript	ENST00000389037.7	protein_coding	26/33			chr15	TogoVar
DUOX1_chr15_45124994_45170574	45153528	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0212 a0002c0002t0003g0212	1	386	0.0026	-20	c.352 others(35): Show c.3524+51_3524+70delGTGTGTGTGTGTGTGTGTAT	DUOX1	ENSG00000137857.18	transcript	ENST00000389037.7	protein_coding	26/33		INFO_REALIGN_3_PRIME	chr15	TogoVar
DUS2_chr16_68018284_68084320	68035911	TATATATA others(13): Show TATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG01071.hp1 others(2): Show HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0003t0001g0123 others(2): Show a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0003t0001g0123 a0001c0003t0001g0124 a0001c0003t0001g0125	5	234	0.0214	-20	c.-18 others(37): Show c.-18-2093_-18-2074delTATATATATATATATATACA	DUS2	ENSG00000167264.18	transcript	ENST00000565263.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
DUSP12_chr1_161744786_161762238	161756483	CTATATAT others(13): Show CTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	446	0.0022	-20	c.862 others(35): Show c.862-285_862-266delATATATATATATATATATAT	DUSP12	ENSG00000081721.12	transcript	ENST00000367943.5	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
DUSP14_chr17_37484891_37518498	37509128	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18942.hp1 NA18959.hp2 others(3): Show HG02165.hp1 NA18942.hp1 NA18959.hp2 NA18970.hp2 NA18989.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0230 a0001c0001t0001g0248 others(2): Show a0001c0001t0001g0017 a0001c0001t0001g0230 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0280	6	421	0.0143	-20	c.-18 others(39): Show c.-180-1528_-180-1509delACACACACACACACACACAC	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr17	TogoVar
DUSP15_chr20_31856077_31875527	31873684	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01099.hp1 HG01943.hp2 others(6): Show HG01070.hp1 HG01099.hp1 HG01943.hp2 HG01952.hp2 HG02273.hp1 HG02818.hp1 HG03579.hp1 HG04204.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0008 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0001 a0001c0001t0008g0138 a0002c0002t0001g0135 others(3): Show a0001c0001t0001g0001 a0001c0001t0008g0138 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0003g0017 a0002c0002t0003g0137	9	378	0.0238	-20	c.-33 others(31): Show c.-3367_-3348delTTCTTTCTTTCTTTCTTTCT	DUSP15	ENSG00000149599.16	transcript	ENST00000339738.10	protein_coding		3158		chr20	TogoVar
DUSP15_chr20_31856077_31875527	31873813	GAAGGAAG others(13): Show GAAGGAAGGAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01243.hp1 HG01257.hp2 others(13): Show HG00639.hp2 HG01243.hp1 HG01257.hp2 HG01934.hp1 HG01975.hp2 HG01993.hp2 HG02148.hp1 HG02258.hp2 HG02300.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03491.hp1 HG03492.hp1 HG06807.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0002t0001 a0002c0002t0002 a0002c0004t0001	a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0032 others(5): Show a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0069 a0002c0002t0001g0088 a0002c0002t0002g0104 a0002c0004t0001g0066	16	378	0.0423	-20	c.-34 others(31): Show c.-3496_-3477delTCTTTCTTTCTTCCTTCCTT	DUSP15	ENSG00000149599.16	transcript	ENST00000339738.10	protein_coding		3287		chr20	TogoVar
DUSP15_chr20_31856077_31875527	31873817	GAAGGAAG others(13): Show GAAGGAAGAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG03654.hp2 NA18953.hp2 others(3): Show HG02630.hp2 HG03654.hp2 NA18953.hp2 NA19068.hp2 NA19075.hp1 NA19075.hp2	a0000 a0001 a0002 a0000 a0001 a0002	a0000c0009 a0001c0003 a0002c0002 others(1): Show a0000c0009 a0001c0003 a0002c0002 a0002c0004	a0000c0009t0001 a0001c0003t0001 a0002c0002t0001 others(1): Show a0000c0009t0001 a0001c0003t0001 a0002c0002t0001 a0002c0004t0002	a0000c0009t0001g0132 a0001c0003t0001g0047 a0001c0003t0001g0048 others(2): Show a0000c0009t0001g0132 a0001c0003t0001g0047 a0001c0003t0001g0048 a0002c0002t0001g0095 a0002c0004t0002g0012	6	378	0.0159	-20	c.-35 others(31): Show c.-3500_-3481delTCTTTCTTTCTTTCTTCCTT	DUSP15	ENSG00000149599.16	transcript	ENST00000339738.10	protein_coding		3291		chr20	TogoVar
DUSP15_chr20_31856077_31875527	31873821	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0117 a0002c0002t0005g0117	1	378	0.0027	-20	c.-35 others(31): Show c.-3504_-3485delTCTTTCTTTCTTTCTTTCTT	DUSP15	ENSG00000149599.16	transcript	ENST00000339738.10	protein_coding		3295		chr20	TogoVar
DUSP26_chr8_33586330_33605023	33596289	ACAACAAT others(13): Show ACAACAATGCTGGGCACGGTG	A A	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	420	0.0024	-20	c.221 others(36): Show c.221+986_221+1005delCACCGTGCCCAGCATTGTTG	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding	2/3			chr8	TogoVar
DUSP29_chr10_75032472_75078642	75070070	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00544.hp2 others(50): Show HG00140.hp1 HG00408.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00733.hp1 HG01192.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01943.hp2 HG01975.hp1 HG02074.hp2 HG02132.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02647.hp1 HG02698.hp1 HG02970.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18945.hp1 NA18952.hp1 NA18955.hp2 NA18966.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18993.hp1 NA19009.hp2 NA19012.hp2 NA19065.hp2 NA19067.hp1 NA19088.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0008	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0005c0004 a0008c0012	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0005c0004t0001 a0008c0012t0001	a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0030 others(39): Show a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0257 a0002c0002t0001g0015 a0002c0002t0001g0031 a0002c0002t0001g0056 a0002c0002t0001g0109 a0002c0002t0001g0111 a0002c0002t0001g0184 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0217 a0002c0002t0001g0251 a0003c0003t0001g0270 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0273 a0005c0004t0001g0112 a0008c0012t0001g0258	53	368	0.1440	-20	c.-35 others(37): Show c.-35+3479_-35+3498delCCTTCCTTCCTTCCTTCCTT	DUSP29	ENSG00000188716.6	transcript	ENST00000338487.6	protein_coding	1/3			chr10	TogoVar
DUSP29_chr10_75032472_75078642	75074303	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	368	0.0027	-20	c.-78 others(29): Show c.-789_-770delATATATTTTTTTTTTTTTTT	DUSP29	ENSG00000188716.6	transcript	ENST00000338487.6	protein_coding		662		chr10	TogoVar
DUSP7_chr3_52043919_52061571	52045855	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	-20	c.49 others(31): Show c.4940_*4959delCACACACACACACACACACA	DUSP7	ENSG00000164086.10	transcript	ENST00000495880.2	protein_coding		3063		chr3	TogoVar
DVL3_chr3_184150377_184178614	184174585	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG03579.hp1 HG01891.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0115 a0001c0001t0001g0116	2	400	0.0050	-20	c.38 others(31): Show c.3831_*3850delAAAAAAAAAAAAAAAAAAAA	DVL3	ENSG00000161202.20	transcript	ENST00000313143.9	protein_coding		972		chr3	TogoVar
DYDC2_chr10_80351781_80373073	80364482	GACTCCCA others(13): Show GACTCCCAAAACTTCACCCTA	G G	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	388	0.0026	-20	c.270 others(37): Show c.270+1410_270+1429delACTCCCAAAACTTCACCCTA	DYDC2	ENSG00000133665.13	transcript	ENST00000256039.3	protein_coding	4/4			chr10	TogoVar
DYM_chr18_49031387_49465645	49145005	CGGGAGTA others(13): Show CGGGAGTATTGCTTGAGCTCA	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03654.hp2 HG01934.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0284 a0001c0001t0002g0285	2	290	0.0069	-20	c.172 others(41): Show c.1728+18660_1728+18679delTGAGCTCAAGCAATACTCCC	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	15/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49254281	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00642.hp1 others(38): Show HG00423.hp2 HG00544.hp1 HG00642.hp1 HG00738.hp1 HG01071.hp1 HG01109.hp2 HG01169.hp1 HG01256.hp1 HG01358.hp2 HG01516.hp1 HG01884.hp2 HG01943.hp2 HG01981.hp2 HG02027.hp1 HG02145.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03516.hp1 HG03704.hp2 HG04199.hp2 NA18953.hp1 NA18989.hp1 NA18995.hp2 NA19010.hp1 NA19064.hp1 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0021 a0001c0001t0022 a0001c0001t0029 a0001c0001t0031 a0001c0001t0035 a0001c0003t0024 a0001c0003t0026 a0001c0004t0001 a0004c0008t0005	a0001c0001t0001g0187 a0001c0001t0001g0249 a0001c0001t0001g0253 others(38): Show a0001c0001t0001g0187 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0002g0172 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0195 a0001c0001t0002g0221 a0001c0001t0003g0155 a0001c0001t0003g0252 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0271 a0001c0001t0004g0132 a0001c0001t0004g0267 a0001c0001t0005g0121 a0001c0001t0005g0156 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0254 a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0005g0261 a0001c0001t0005g0262 a0001c0001t0005g0265 a0001c0001t0005g0266 a0001c0001t0005g0269 a0001c0001t0011g0240 a0001c0001t0011g0241 a0001c0001t0011g0242 a0001c0001t0011g0243 a0001c0001t0011g0244 a0001c0001t0021g0234 a0001c0001t0022g0286 a0001c0001t0029g0260 a0001c0001t0031g0114 a0001c0001t0035g0264 a0001c0003t0024g0008 a0001c0003t0026g0001 a0001c0004t0001g0035 a0004c0008t0005g0263	41	290	0.1414	-20	c.146 others(39): Show c.1460+2709_1460+2728delATATATATATATATATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	13/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49258839	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp1 HG02257.hp2 others(12): Show HG00735.hp2 HG01891.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02622.hp2 HG02717.hp2 HG02965.hp1 HG03516.hp2 HG03579.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0040 a0001c0002t0001 a0001c0001t0001 a0001c0001t0040 a0001c0002t0001	a0001c0001t0001g0233 a0001c0001t0040g0230 a0001c0002t0001g0149 others(12): Show a0001c0001t0001g0233 a0001c0001t0040g0230 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0209 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247	15	290	0.0517	-20	c.125 others(37): Show c.1252-366_1252-347delCTCTCTCTCTCTCTCTCTCT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	11/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49313462	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG02015.hp2 others(4): Show HG00408.hp2 HG00423.hp1 HG02015.hp2 HG02027.hp2 HG02155.hp2 NA18950.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0018 a0001c0001t0010 a0001c0001t0018	a0001c0001t0010g0145 a0001c0001t0010g0272 a0001c0001t0010g0273 others(4): Show a0001c0001t0010g0145 a0001c0001t0010g0272 a0001c0001t0010g0273 a0001c0001t0010g0274 a0001c0001t0010g0275 a0001c0001t0018g0143 a0001c0001t0018g0144	7	290	0.0241	-20	c.763 others(39): Show c.763+18382_763+18401delTTTTTTTTTTTTTTTTTTTT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49393091	GGGAAGGA others(13): Show GGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00544.hp1 others(39): Show HG00099.hp1 HG00423.hp2 HG00544.hp1 HG00621.hp2 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp2 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG02004.hp2 HG02027.hp2 HG02155.hp2 HG02280.hp2 HG02735.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03041.hp1 HG03209.hp1 HG03490.hp2 HG03669.hp1 HG03831.hp1 NA18954.hp2 NA18991.hp1 NA19009.hp1 NA19043.hp2 NA19060.hp2 NA19068.hp1 NA19077.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0030 a0001c0001t0031 a0001c0003t0009 a0001c0007t0002	a0001c0001t0001g0220 a0001c0001t0002g0142 a0001c0001t0002g0177 others(39): Show a0001c0001t0001g0220 a0001c0001t0002g0142 a0001c0001t0002g0177 a0001c0001t0002g0186 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0207 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0248 a0001c0001t0003g0010 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0104 a0001c0001t0003g0115 a0001c0001t0003g0231 a0001c0001t0003g0255 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0126 a0001c0001t0004g0128 a0001c0001t0004g0132 a0001c0001t0004g0136 a0001c0001t0004g0152 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0257 a0001c0001t0004g0289 a0001c0001t0005g0251 a0001c0001t0005g0266 a0001c0001t0010g0273 a0001c0001t0013g0086 a0001c0001t0013g0087 a0001c0001t0016g0140 a0001c0001t0018g0144 a0001c0001t0030g0127 a0001c0001t0031g0114 a0001c0003t0009g0006 a0001c0007t0002g0098	42	290	0.1448	-20	c.141 others(37): Show c.141-1466_141-1447delTTCCTTCCTTCCTTCCTTCC	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	2/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49440010	CAATAAAT others(13): Show CAATAAATAAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0290 a0001c0001t0041g0290	1	290	0.0035	-20	c.-53 others(37): Show c.-53-9583_-53-9564delTATTTATTTATTTATTTATT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYNC1I1_chr7_95767554_96103424	95785775	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	230	0.0044	-20	c.-10 others(39): Show c.-10+13026_-10+13045delATATATATATATATATATAT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95968824	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03098.hp1 HG02257.hp1 HG03098.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0011 a0001c0001 a0003c0011	a0001c0001t0005 a0003c0011t0001 a0001c0001t0005 a0003c0011t0001	a0001c0001t0005g0229 a0003c0011t0001g0171 a0001c0001t0005g0229 a0003c0011t0001g0171	2	230	0.0087	-20	c.491 others(37): Show c.491-8660_491-8641delGTGTGTGTGTGTGTGTGTGT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I2_chr2_171682469_171755158	171710122	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp1 HG02922.hp1 others(2): Show HG02258.hp2 HG02451.hp1 HG02922.hp1 HG03486.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0016 a0001c0001t0007g0312 a0001c0001t0007g0313 others(1): Show a0001c0001t0007g0016 a0001c0001t0007g0312 a0001c0001t0007g0313 a0001c0001t0007g0314	5	334	0.0150	-20	c.336 others(37): Show c.336-2621_336-2602delCACACACACACACACACACA	DYNC1I2	ENSG00000077380.16	transcript	ENST00000397119.8	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYNC2H1_chr11_103104426_103484863	103243288	GATAGATA others(13): Show GATAGATAGATAGATAGATAA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01081.hp2 NA18951.hp2 others(2): Show HG00423.hp2 HG01081.hp2 NA18951.hp2 NA18989.hp1 NA19078.hp1	a0004 a0016 a0004 a0016	a0004c0004 a0016c0064 a0004c0004 a0016c0064	a0004c0004t0001 a0016c0064t0001 a0004c0004t0001 a0016c0064t0001	a0004c0004t0001g0081 a0004c0004t0001g0083 a0004c0004t0001g0084 others(2): Show a0004c0004t0001g0081 a0004c0004t0001g0083 a0004c0004t0001g0084 a0004c0004t0001g0086 a0016c0064t0001g0042	5	262	0.0191	-20	c.982 others(37): Show c.9820-399_9820-380delTAGATAGATAGATAAATAGA	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	63/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103453623	TATATATA others(13): Show TATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0028 a0028	a0028c0066 a0028c0066	a0028c0066t0001 a0028c0066t0001	a0028c0066t0001g0205 a0028c0066t0001g0205	1	262	0.0038	-20	c.124 others(41): Show c.12457-1561_12457-1542delTATATATATATATATATACA	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	85/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103453625	TATATATA others(13): Show TATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00544.hp1 others(47): Show HG00140.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00738.hp1 HG01361.hp2 HG01496.hp2 HG01891.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02109.hp2 HG02148.hp2 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02809.hp1 HG02976.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03516.hp2 HG04228.hp1 NA18612.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 NA19081.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA20129.hp2 NA20805.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0007 a0011 a0029 a0031 a0034	a0001c0001 a0001c0005 a0001c0006 others(14): Show a0001c0001 a0001c0005 a0001c0006 a0001c0010 a0001c0028 a0001c0051 a0001c0057 a0002c0003 a0002c0007 a0002c0022 a0003c0002 a0004c0004 a0007c0013 a0011c0035 a0029c0053 a0031c0042 a0034c0059	a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 others(15): Show a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 a0001c0006t0001 a0001c0010t0001 a0001c0028t0001 a0001c0051t0001 a0001c0057t0001 a0002c0003t0001 a0002c0007t0001 a0002c0022t0001 a0003c0002t0001 a0004c0004t0001 a0007c0013t0001 a0011c0035t0001 a0029c0053t0001 a0031c0042t0001 a0034c0059t0001	a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0122 others(47): Show a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0183 a0001c0001t0004g0150 a0001c0001t0004g0153 a0001c0005t0001g0011 a0001c0005t0001g0120 a0001c0005t0001g0194 a0001c0006t0001g0048 a0001c0006t0001g0064 a0001c0010t0001g0047 a0001c0010t0001g0171 a0001c0010t0001g0179 a0001c0028t0001g0172 a0001c0028t0001g0173 a0001c0051t0001g0066 a0001c0057t0001g0249 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0028 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0247 a0002c0007t0001g0070 a0002c0022t0001g0043 a0002c0022t0001g0044 a0002c0022t0001g0046 a0003c0002t0001g0154 a0003c0002t0001g0165 a0004c0004t0001g0088 a0007c0013t0001g0078 a0007c0013t0001g0082 a0007c0013t0001g0093 a0011c0035t0001g0202 a0011c0035t0001g0204 a0029c0053t0001g0236 a0031c0042t0001g0065 a0034c0059t0001g0027	50	262	0.1908	-20	c.124 others(41): Show c.12457-1559_12457-1540delTATATATATATATATACACA	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	85/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103467509	CTGTTTTG others(13): Show CTGTTTTGTTTTGTTTTGTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG01167.hp1 others(29): Show HG00423.hp1 HG00621.hp2 HG01167.hp1 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01981.hp1 HG02056.hp2 HG02135.hp1 HG02683.hp2 HG03139.hp1 HG03490.hp1 HG03704.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18952.hp1 NA18962.hp2 NA18983.hp1 NA18988.hp1 NA18994.hp2 NA18995.hp1 NA19003.hp2 NA19012.hp2 NA19081.hp1	a0001 a0002 a0007 others(4): Show a0001 a0002 a0007 a0008 a0013 a0018 a0033	a0001c0001 a0001c0005 a0001c0006 others(10): Show a0001c0001 a0001c0005 a0001c0006 a0001c0008 a0001c0025 a0001c0029 a0001c0036 a0002c0017 a0007c0013 a0008c0020 a0013c0019 a0018c0030 a0033c0049	a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 others(10): Show a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 a0001c0008t0001 a0001c0025t0001 a0001c0029t0001 a0001c0036t0001 a0002c0017t0001 a0007c0013t0001 a0008c0020t0001 a0013c0019t0001 a0018c0030t0001 a0033c0049t0001	a0001c0001t0001g0108 a0001c0001t0001g0196 a0001c0001t0001g0237 others(29): Show a0001c0001t0001g0108 a0001c0001t0001g0196 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0005t0001g0100 a0001c0005t0001g0113 a0001c0005t0001g0166 a0001c0006t0001g0048 a0001c0006t0001g0053 a0001c0006t0001g0064 a0001c0008t0001g0104 a0001c0008t0001g0174 a0001c0008t0001g0177 a0001c0008t0001g0178 a0001c0008t0001g0188 a0001c0008t0001g0192 a0001c0025t0001g0062 a0001c0029t0001g0098 a0001c0029t0001g0099 a0001c0036t0001g0161 a0002c0017t0001g0021 a0002c0017t0001g0022 a0007c0013t0001g0078 a0007c0013t0001g0093 a0008c0020t0001g0248 a0013c0019t0001g0033 a0013c0019t0001g0034 a0013c0019t0001g0035 a0018c0030t0001g0102 a0018c0030t0001g0103 a0033c0049t0001g0241	32	262	0.1221	-20	c.126 others(41): Show c.12649-1052_12649-1033delTTTTGTTTTGTTTTGTTTTG	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	87/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNLL2_chr17_58078419_58100542	58095042	TGCTATGA others(13): Show TGCTATGAACATTGATGTACA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG01069.hp1 HG01071.hp1 others(29): Show HG00423.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01884.hp1 HG02486.hp1 HG02559.hp2 HG02622.hp2 HG02683.hp1 HG02896.hp1 HG02897.hp2 HG03130.hp1 HG03195.hp1 HG03516.hp1 HG03579.hp1 HG04115.hp2 HG06807.hp1 NA18906.hp1 NA18960.hp1 NA18961.hp2 NA18964.hp2 NA18988.hp1 NA18990.hp2 NA18995.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19009.hp2 NA19062.hp1 NA19070.hp1 NA19072.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0023 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0023 a0001c0001t0024	a0001c0001t0003g0002 a0001c0001t0003g0019 a0001c0001t0008g0002 others(2): Show a0001c0001t0003g0002 a0001c0001t0003g0019 a0001c0001t0008g0002 a0001c0001t0023g0002 a0001c0001t0024g0002	32	306	0.1046	-20	c.57 others(31): Show c.5765_*5784delCTATGAACATTGATGTACAG	DYNLL2	ENSG00000264364.3	transcript	ENST00000579991.3	protein_coding	3/3	5765	INFO_REALIGN_3_PRIME	chr17	TogoVar
DYRK1A_chr21_37361773_37531358	37457013	TTTACTTA others(13): Show TTTACTTACTTACTTACTTAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0171 a0001c0001t0171	a0001c0001t0171g0323 a0001c0001t0171g0323	1	350	0.0029	-20	c.11- others(37): Show c.11-15663_11-15644delCTTACTTACTTACTTACTTA	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37457029	CTTACTTA others(13): Show CTTACTTACTTATTTATTTAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01071.hp1 HG01123.hp1 others(5): Show HG00140.hp1 HG01071.hp1 HG01123.hp1 HG01257.hp1 HG01361.hp1 HG01496.hp2 HG01943.hp2 HG01981.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0014 a0001c0001t0106 others(1): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0106 a0002c0004t0032	a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0060 others(5): Show a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0014g0047 a0001c0001t0106g0062 a0002c0004t0032g0086	8	350	0.0229	-20	c.11- others(37): Show c.11-15651_11-15632delCTTACTTATTTATTTATTTA	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37457033	CTTACTTA others(13): Show CTTACTTATTTATTTATTTAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00673.hp1 others(76): Show HG00099.hp2 HG00423.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01070.hp2 HG01109.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02273.hp2 HG02293.hp1 HG02572.hp2 HG02738.hp1 HG02896.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp1 HG03579.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18906.hp2 NA18939.hp1 NA18943.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19009.hp1 NA19012.hp1 NA19043.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19086.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(43): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0044 a0001c0001t0046 a0001c0001t0055 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0070 a0001c0001t0078 a0001c0001t0080 a0001c0001t0089 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0096 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0159 a0001c0001t0160 a0001c0001t0163 a0001c0001t0164 a0001c0001t0165 a0001c0001t0168 a0001c0002t0167	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0017 others(76): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0005g0158 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0163 a0001c0001t0006g0004 a0001c0001t0013g0155 a0001c0001t0013g0268 a0001c0001t0014g0079 a0001c0001t0014g0102 a0001c0001t0014g0105 a0001c0001t0024g0169 a0001c0001t0024g0175 a0001c0001t0024g0176 a0001c0001t0025g0042 a0001c0001t0025g0344 a0001c0001t0029g0160 a0001c0001t0029g0168 a0001c0001t0030g0044 a0001c0001t0030g0093 a0001c0001t0031g0033 a0001c0001t0032g0078 a0001c0001t0044g0170 a0001c0001t0044g0251 a0001c0001t0046g0090 a0001c0001t0055g0269 a0001c0001t0064g0074 a0001c0001t0065g0085 a0001c0001t0066g0097 a0001c0001t0070g0101 a0001c0001t0078g0034 a0001c0001t0080g0089 a0001c0001t0089g0270 a0001c0001t0091g0157 a0001c0001t0092g0098 a0001c0001t0093g0252 a0001c0001t0094g0006 a0001c0001t0096g0076 a0001c0001t0098g0009 a0001c0001t0099g0052 a0001c0001t0100g0051 a0001c0001t0103g0347 a0001c0001t0104g0068 a0001c0001t0105g0028 a0001c0001t0109g0166 a0001c0001t0110g0080 a0001c0001t0111g0153 a0001c0001t0112g0164 a0001c0001t0113g0165 a0001c0001t0114g0066 a0001c0001t0115g0159 a0001c0001t0159g0172 a0001c0001t0160g0177 a0001c0001t0163g0171 a0001c0001t0164g0173 a0001c0001t0165g0174 a0001c0001t0168g0167 a0001c0002t0167g0322	79	350	0.2257	-20	c.11- others(37): Show c.11-15647_11-15628delCTTATTTATTTATTTATTTA	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37457037	CTTATTTA others(13): Show CTTATTTATTTATTTATTTAT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA18966.hp1 NA18989.hp1 others(3): Show HG02683.hp2 NA18966.hp1 NA18989.hp1 NA18991.hp1 NA19066.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0054 others(3): Show a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0013g0156	6	350	0.0171	-20	c.11- others(37): Show c.11-15619_11-15600delTTTATTTATTTATTTATTTA	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37479592	TTGTTTTT others(13): Show TTGTTTTTGTTTTTGTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0171 a0001c0001t0171	a0001c0001t0171g0323 a0001c0001t0171g0323	1	350	0.0029	-20	c.301 others(37): Show c.301-1044_301-1025delGTTTTTGTTTTTGTTTTTGT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37495152	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0153 a0001c0001t0111g0153	1	350	0.0029	-20	c.107 others(37): Show c.1072-935_1072-916delTGTGTGTGTGTGTGTGTGTG	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYSF_chr2_71448561_71691763	71571385	TCAGCACA others(13): Show TCAGCACACACAGATCACACC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02965.hp1 HG03579.hp1 HG01891.hp2 HG02965.hp1 HG03579.hp1	a0002 a0027 a0028 a0002 a0027 a0028	a0002c0021 a0027c0066 a0028c0068 a0002c0021 a0027c0066 a0028c0068	a0002c0021t0001 a0027c0066t0001 a0028c0068t0004 a0002c0021t0001 a0027c0066t0001 a0028c0068t0004	a0002c0021t0001g0086 a0027c0066t0001g0006 a0028c0068t0004g0100 a0002c0021t0001g0086 a0027c0066t0001g0006 a0028c0068t0004g0100	3	192	0.0156	-20	c.317 others(37): Show c.3174+663_3174+682delCCCAGCACACACAGATCACA	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	29/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71571459	GATCACAC others(13): Show GATCACACCCAGCACACACAC	G G	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0002 a0001c0050t0002	a0001c0050t0002g0154 a0001c0050t0002g0154	1	192	0.0052	-20	c.317 others(37): Show c.3174+733_3174+752delACACACATCACACCCAGCAC	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	29/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71571385	TCAGCACA others(13): Show TCAGCACACACAGATCACACC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02965.hp2 HG03579.hp2 HG01891.hp1 HG02965.hp2 HG03579.hp2	a0002 a0030 a0031 a0002 a0030 a0031	a0002c0021 a0030c0069 a0031c0071 a0002c0021 a0030c0069 a0031c0071	a0002c0021t0002 a0030c0069t0001 a0031c0071t0005 a0002c0021t0002 a0030c0069t0001 a0031c0071t0005	a0002c0021t0002g0149 a0030c0069t0001g0200 a0031c0071t0005g0077 a0002c0021t0002g0149 a0030c0069t0001g0200 a0031c0071t0005g0077	3	208	0.0144	-20	c.322 others(37): Show c.3228+663_3228+682delCCCAGCACACACAGATCACA	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	29/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71617628	ATGTGTGT others(13): Show ATGTGTGTGGCAGAGGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0062 a0001c0005t0001g0062	1	208	0.0048	-20	c.446 others(39): Show c.4465-2900_4465-2881delTGTGTGTGTGGCAGAGGTGG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DZIP1_chr13_95573202_95649706	95621665	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0054 a0001c0001t0029g0054	1	382	0.0026	-20	c.111 others(37): Show c.1110+658_1110+677delACACACACACACACACACAC	DZIP1	ENSG00000134874.18	transcript	ENST00000376829.7	protein_coding	9/22			chr13	TogoVar
DZIP3_chr3_108584722_108699840	108616265	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02559.hp1 HG02717.hp1 others(5): Show HG00735.hp2 HG02559.hp1 HG02717.hp1 HG02976.hp1 HG03098.hp1 HG03453.hp1 HG03471.hp2 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0003 a0003c0006t0002 a0001c0001t0003 a0003c0006t0002	a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 others(4): Show a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0003c0006t0002g0003 a0003c0006t0002g0220 a0003c0006t0002g0221	8	318	0.0252	-20	c.259 others(35): Show c.259-252_259-233delTAAATAAATAAATAAATAAA	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
E2F5_chr8_85172154_85219518	85180511	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00597.hp1 others(96): Show HG00280.hp1 HG00408.hp1 HG00597.hp1 HG00609.hp1 HG00673.hp2 HG01070.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03491.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18978.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19010.hp2 NA19012.hp2 NA19054.hp1 NA19059.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp2 NA19082.hp2 NA19086.hp2 NA19089.hp2 NA19090.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0003c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(83): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0003g0097 a0001c0002t0001g0047 a0001c0002t0001g0281 a0003c0006t0001g0152	99	336	0.2946	-20	c.234 others(37): Show c.234+2882_234+2901delATATATATATATATATATAT	E2F5	ENSG00000133740.11	transcript	ENST00000416274.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
E2F5_chr8_85172154_85219518	85212847	CTGTTTGC others(13): Show CTGTTTGCAAAGTGGAAAACA	C C	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	336	0.0030	-20	c.931 others(35): Show c.931+644_931+663delTGTTTGCAAAGTGGAAAACA	E2F5	ENSG00000133740.11	transcript	ENST00000416274.7	protein_coding	7/7			chr8	TogoVar
E2F7_chr12_77016251_77070569	77068779	GTGTGTGT others(13): Show GTGTGTGTGTGTATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03209.hp2 NA19030.hp2 HG03139.hp1 HG03209.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0004t0001 a0001c0001t0005 a0001c0004t0001	a0001c0001t0005g0155 a0001c0004t0001g0156 a0001c0004t0001g0157 a0001c0001t0005g0155 a0001c0004t0001g0156 a0001c0004t0001g0157	3	394	0.0076	-20	c.-34 others(31): Show c.-3455_-3436delTATATATATACACACACACA	E2F7	ENSG00000165891.16	transcript	ENST00000322886.12	protein_coding		3211		chr12	TogoVar
E2F7_chr12_77016251_77070569	77068785	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02723.hp2 HG02257.hp1 HG02723.hp2	a0002 a0002	a0002c0003 a0002c0008 a0002c0003 a0002c0008	a0002c0003t0001 a0002c0008t0001 a0002c0003t0001 a0002c0008t0001	a0002c0003t0001g0151 a0002c0008t0001g0158 a0002c0003t0001g0151 a0002c0008t0001g0158	2	394	0.0051	-20	c.-34 others(31): Show c.-3461_-3442delTATATATATATATATACACA	E2F7	ENSG00000165891.16	transcript	ENST00000322886.12	protein_coding		3217		chr12	TogoVar
E2F7_chr12_77016251_77070569	77068789	GTATATAT others(13): Show GTATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	394	0.0025	-20	c.-34 others(31): Show c.-3465_-3446delTATATATATATATATATATA	E2F7	ENSG00000165891.16	transcript	ENST00000322886.12	protein_coding		3221		chr12	TogoVar

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