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
DLGAP2_chr8_732628_1713476	1039154	A A	ATGCGTGG others(11): Show ATGCGTGGTCAGCTCGGTG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02071.hp1 HG02258.hp2 others(3): Show HG01071.hp2 HG02071.hp1 HG02258.hp2 HG02818.hp2 HG02895.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0012 a0002c0001 others(3): Show a0001c0003 a0001c0012 a0002c0001 a0002c0004 a0002c0009 a0002c0010	a0001c0003t0006 a0001c0012t0012 a0002c0001t0011 others(3): Show a0001c0003t0006 a0001c0012t0012 a0002c0001t0011 a0002c0004t0026 a0002c0009t0021 a0002c0010t0008	a0001c0003t0006g0033 a0001c0012t0012g0006 a0002c0001t0011g0001 others(3): Show a0001c0003t0006g0033 a0001c0012t0012g0006 a0002c0001t0011g0001 a0002c0004t0026g0016 a0002c0009t0021g0014 a0002c0010t0008g0040	6	40	0.1500	18	c.73+ others(37): Show c.73+131206_73+131223dupGTGCGTGGTCAGCTCGGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1227153	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02818.hp1 HG01361.hp1 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0027 a0002c0001t0001 a0001c0002t0027 a0002c0001t0001	a0001c0002t0027g0023 a0002c0001t0001g0018 a0001c0002t0027g0023 a0002c0001t0001g0018	2	40	0.0500	18	c.74- others(35): Show c.74-31694_74-31677dupTATATATATATATATATA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1267627	T T	TAAAATAA others(11): Show TAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0003 a0001c0003t0024g0003	1	40	0.0250	18	c.106 others(35): Show c.106+8745_106+8746insAAATAAAATAAAATAAAA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1601945	G G	GATGTGTG others(11): Show GATGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0012 a0001c0012t0012	a0001c0012t0012g0006 a0001c0012t0012g0006	1	40	0.0250	18	c.144 others(39): Show c.1443-24795_1443-24794insATGTGTGTGTGTGTGTGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	6/14			chr8	TogoVar
DLGAP3_chr1_34860436_34934650	34906016	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0244 a0001c0001t0005g0244	1	266	0.0038	18	c.-51 others(33): Show c.-51-583_-51-582insTATATATATATATATATA	DLGAP3	ENSG00000116544.12	transcript	ENST00000373347.6	protein_coding	2/11			chr1	TogoVar
DLGAP4_chr20_36301339_36533633	36467017	C C	CCTCCCTC others(11): Show CCTCCCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0100 a0003c0004t0002g0100	1	144	0.0069	18	c.164 others(39): Show c.1648+20083_1648+20084insCCTCTCTCTCTCTCTCTC	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DLGAP4_chr20_36301339_36533633	36525216	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	144	0.0069	18	c.260 others(35): Show c.2605-614_2605-597dupAAAAAAAAAAAAAAAAAA	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DLGAP5_chr14_55143135_55196585	55190289	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0101 a0002c0002t0001g0101	1	362	0.0028	18	c.-1- others(33): Show c.-1-1127_-1-1110dupGTGTGTGTGTGTGTGTGT	DLGAP5	ENSG00000126787.13	transcript	ENST00000247191.7	protein_coding	1/18			chr14	TogoVar
DLK1_chr14_100721892_100743224	100740364	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTGTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19005.hp2 NA19010.hp1 NA19000.hp2 NA19005.hp2 NA19010.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0006 a0003c0005t0006	a0003c0005t0006g0011 a0003c0005t0006g0021 a0003c0005t0006g0011 a0003c0005t0006g0021	3	424	0.0071	18	c.54 others(29): Show c.5468_*5469insTTTTTTTTTTTTTGTTTT	DLK1	ENSG00000185559.16	transcript	ENST00000341267.9	protein_coding		2141		chr14	TogoVar
DLK1_chr14_100721892_100743224	100740364	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 NA18964.hp1 NA19085.hp2 HG01358.hp2 NA18964.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0044 a0002c0003t0005 a0001c0001t0044 a0002c0003t0005	a0001c0001t0044g0066 a0002c0003t0005g0006 a0001c0001t0044g0066 a0002c0003t0005g0006	3	424	0.0071	18	c.54 others(29): Show c.5468_*5469insTTTTTTTTTTTTTTTTTT	DLK1	ENSG00000185559.16	transcript	ENST00000341267.9	protein_coding		2141		chr14	TogoVar
DLST_chr14_74876916_74908743	74878668	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG01358.hp2 HG01884.hp1 others(9): Show HG00621.hp2 HG01358.hp2 HG01884.hp1 HG01943.hp2 HG02015.hp2 HG02071.hp1 HG02257.hp1 HG03490.hp2 NA18940.hp2 NA18952.hp1 NA19078.hp1 NA19091.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0003 a0001c0003t0003g0018 a0001c0003t0003g0120 others(3): Show a0001c0003t0003g0003 a0001c0003t0003g0018 a0001c0003t0003g0120 a0001c0003t0003g0122 a0001c0003t0003g0123 a0001c0003t0003g0132	12	392	0.0306	18	c.-32 others(29): Show c.-3286_-3285insGTGTGTGTGTGTGTGTGT	DLST	ENSG00000119689.15	transcript	ENST00000334220.9	protein_coding		3247		chr14	TogoVar
DLX3_chr17_49985005_50000224	49995355	C C	CCTCTCTC others(11): Show CCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0006 a0001c0003t0006g0006	1	438	0.0023	18	c.-35 others(27): Show c.-358_-357insAGAGAGAGAGAGAGAGAG	DLX3	ENSG00000064195.7	transcript	ENST00000434704.2	protein_coding		132		chr17	TogoVar
DLX3_chr17_49985005_50000224	49995433	A A	AACACACA others(11): Show AACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG01257.hp2 others(10): Show HG00408.hp1 HG00408.hp2 HG01257.hp2 HG01258.hp2 HG02040.hp2 HG02300.hp1 HG02895.hp1 HG02896.hp1 HG03225.hp1 HG04184.hp2 NA18941.hp2 NA19007.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0038 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0001t0038 a0001c0002t0004 a0001c0004t0001 a0001c0006t0004	a0001c0001t0001g0001 a0001c0001t0038g0058 a0001c0002t0004g0004 others(2): Show a0001c0001t0001g0001 a0001c0001t0038g0058 a0001c0002t0004g0004 a0001c0004t0001g0019 a0001c0006t0004g0066	13	438	0.0297	18	c.-43 others(27): Show c.-436_-435insGTGTGTGTGTGTGTGTGT	DLX3	ENSG00000064195.7	transcript	ENST00000434704.2	protein_coding		210		chr17	TogoVar
DLX5_chr7_97015396_97029831	97016224	A A	AACACACA others(11): Show AACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG01074.hp2 others(60): Show HG00140.hp1 HG00642.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01358.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG02015.hp1 HG02040.hp2 HG02129.hp1 HG02622.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02976.hp2 HG03017.hp2 HG03209.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03688.hp1 HG03831.hp2 HG04199.hp2 HG06807.hp2 NA18939.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18956.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp2 NA18991.hp1 NA18994.hp1 NA18999.hp1 NA19007.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19067.hp2 NA19070.hp1 NA19080.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(23): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0064 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0002g0001 a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0027 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0061 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0078	63	448	0.1406	18	c.45 others(29): Show c.4511_*4512insGTGTGTGTGTGTGTGTGT	DLX5	ENSG00000105880.7	transcript	ENST00000648378.1	protein_coding		4171		chr7	TogoVar
DMAC1_chr9_7791500_7804778	7799994	G G	GCCCCCCC others(11): Show GCCCCCCCCCCGGCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0056 a0003c0006t0003g0056	1	474	0.0021	18	c.-26 others(27): Show c.-261_-260insGGGGGGCCGGGGGGGGGG	DMAC1	ENSG00000137038.8	transcript	ENST00000358227.5	protein_coding		217		chr9	TogoVar
DMAC1_chr9_7791500_7804778	7799994	G G	GCCCCCCC others(11): Show GCCCCCCCCCGCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	474	0.0021	18	c.-26 others(27): Show c.-261_-260insGGGGGGGGCGGGGGGGGG	DMAC1	ENSG00000137038.8	transcript	ENST00000358227.5	protein_coding		217		chr9	TogoVar
DMAC2_chr19_41426318_41444912	41432653	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02622.hp1 HG02055.hp2 HG02622.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0025 a0003c0003t0001g0025	2	426	0.0047	18	c.597 others(33): Show c.597-263_597-246dupACACACACACACACACAC	DMAC2	ENSG00000105341.19	transcript	ENST00000221943.14	protein_coding	5/5			chr19	TogoVar
DMAC2_chr19_41426318_41444912	41432674	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18950.hp2 NA19090.hp2 HG00558.hp1 NA18950.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0157 a0002c0002t0001g0164 a0002c0002t0001g0120 a0002c0002t0001g0157 a0002c0002t0001g0164	3	426	0.0070	18	c.597 others(33): Show c.597-267_597-266insTACACACACACACACACA	DMAC2	ENSG00000105341.19	transcript	ENST00000221943.14	protein_coding	5/5			chr19	TogoVar
DMAC2_chr19_41426318_41444912	41432706	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02895.hp2 HG02723.hp1 HG02895.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0170 a0003c0003t0001g0172 a0003c0003t0001g0170 a0003c0003t0001g0172	2	426	0.0047	18	c.597 others(33): Show c.597-316_597-299dupACACACACACACACACAC	DMAC2	ENSG00000105341.19	transcript	ENST00000221943.14	protein_coding	5/5			chr19	TogoVar
DMC1_chr22_38513948_38575183	38557956	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03490.hp1 HG03704.hp1 others(3): Show HG01099.hp2 HG03490.hp1 HG03704.hp1 NA18950.hp2 NA18963.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0226 a0001c0001t0001g0274 a0001c0001t0001g0275 others(3): Show a0001c0001t0001g0226 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0003g0276	6	324	0.0185	18	c.327 others(35): Show c.327-2565_327-2548dupAAAAAAAAAAAAAAAAAA	DMC1	ENSG00000100206.11	transcript	ENST00000216024.7	protein_coding	5/13			chr22	TogoVar
DMD_chrX_31114222_33216549	31138624	G G	GGAGAGGG others(11): Show GGAGAGGGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0020 a0005c0023t0020	a0005c0023t0020g0110 a0005c0023t0020g0110	1	126	0.0079	18	c.109 others(39): Show c.10922-4431_10922-4430insTCTCTCTCTCTCCCTCTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	76/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31138686	A A	AGAGAGGG others(11): Show AGAGAGGGAGAGAGAGTGT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0006 a0006	a0006c0032 a0006c0032	a0006c0032t0003 a0006c0032t0003	a0006c0032t0003g0077 a0006c0032t0003g0077	1	126	0.0079	18	c.109 others(39): Show c.10922-4493_10922-4492insACACTCTCTCTCCCTCTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	76/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31141201	A A	AAACAACA others(11): Show AAACAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0010 a0002c0009t0010	a0002c0009t0010g0023 a0002c0009t0010g0023	1	126	0.0079	18	c.109 others(39): Show c.10921+5072_10921+5089dupGTTGTTGTTGTTGTTGTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	76/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31187717	C C	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0034 a0034	a0034c0050 a0034c0050	a0034c0050t0001 a0034c0050t0001	a0034c0050t0001g0119 a0034c0050t0001g0119	1	126	0.0079	18	c.980 others(37): Show c.9808-4831_9808-4814dupCTCTCTCTCTCTCTCTCT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	67/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31219833	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02486.hp1 HG02683.hp2 others(1): Show HG01358.hp1 HG02486.hp1 HG02683.hp2 HG04228.hp1	a0001 a0003 a0023 a0001 a0003 a0023	a0001c0001 a0003c0003 a0023c0033 a0001c0001 a0003c0003 a0023c0033	a0001c0001t0001 a0003c0003t0001 a0023c0033t0001 a0001c0001t0001 a0003c0003t0001 a0023c0033t0001	a0001c0001t0001g0069 a0003c0003t0001g0033 a0003c0003t0001g0050 others(1): Show a0001c0001t0001g0069 a0003c0003t0001g0033 a0003c0003t0001g0050 a0023c0033t0001g0089	4	126	0.0318	18	c.936 others(37): Show c.9361+3196_9361+3213dupGTGTGTGTGTGTGTGTGT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	64/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31266159	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0010 a0002c0009t0010	a0002c0009t0010g0023 a0002c0009t0010g0023	1	126	0.0079	18	c.922 others(37): Show c.9225-5161_9225-5144dupTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31284557	T T	TTTCTTCT others(11): Show TTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01433.hp1 HG02055.hp1 others(10): Show HG01167.hp1 HG01433.hp1 HG02055.hp1 HG02257.hp2 HG02976.hp2 HG03710.hp1 NA18747.hp1 NA18962.hp1 NA18970.hp1 NA18971.hp1 NA18994.hp1 NA19005.hp1 NA19012.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0013	a0001c0001 a0001c0002 a0002c0005 others(6): Show a0001c0001 a0001c0002 a0002c0005 a0003c0008 a0004c0004 a0004c0011 a0005c0057 a0006c0006 a0013c0049	a0001c0001t0001 a0001c0002t0001 a0002c0005t0001 others(7): Show a0001c0001t0001 a0001c0002t0001 a0002c0005t0001 a0003c0008t0015 a0003c0008t0023 a0004c0004t0001 a0004c0011t0001 a0005c0057t0001 a0006c0006t0001 a0013c0049t0001	a0001c0001t0001g0037 a0001c0001t0001g0084 a0001c0001t0001g0090 others(10): Show a0001c0001t0001g0037 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0002t0001g0088 a0002c0005t0001g0040 a0003c0008t0015g0123 a0003c0008t0023g0005 a0004c0004t0001g0041 a0004c0011t0001g0034 a0005c0057t0001g0109 a0006c0006t0001g0001 a0006c0006t0001g0047 a0013c0049t0001g0073	13	126	0.1032	18	c.922 others(39): Show c.9225-23559_9225-23542dupGAAGAAGAAGAAGAAGAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31293163	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0015 a0003c0008t0015	a0003c0008t0015g0123 a0003c0008t0015g0123	1	126	0.0079	18	c.922 others(39): Show c.9224+30417_9224+30434dupACACACACACACACACAC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31314748	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03195.hp1 HG03225.hp1 others(1): Show HG02965.hp1 HG03195.hp1 HG03225.hp1 HG03579.hp1	a0002 a0003 a0026 a0002 a0003 a0026	a0002c0012 a0002c0052 a0003c0014 others(1): Show a0002c0012 a0002c0052 a0003c0014 a0026c0025	a0002c0012t0002 a0002c0052t0025 a0003c0014t0010 others(1): Show a0002c0012t0002 a0002c0052t0025 a0003c0014t0010 a0026c0025t0006	a0002c0012t0002g0098 a0002c0052t0025g0095 a0003c0014t0010g0015 others(1): Show a0002c0012t0002g0098 a0002c0052t0025g0095 a0003c0014t0010g0015 a0026c0025t0006g0108	4	126	0.0318	18	c.922 others(37): Show c.9224+8849_9224+8850insTTCTCTCTCTCTCTCTCT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31351157	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0059 a0002c0059	a0002c0059t0012 a0002c0059t0012	a0002c0059t0012g0055 a0002c0059t0012g0055	1	126	0.0079	18	c.908 others(37): Show c.9085-2524_9085-2523insGTGTGTGTGTGTGTGTGT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	60/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31394938	T T	TGAGAGAG others(11): Show TGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01258.hp1 HG02293.hp1 others(7): Show HG01243.hp1 HG01258.hp1 HG02293.hp1 HG02683.hp2 HG02965.hp1 HG03139.hp1 HG03710.hp1 NA18945.hp1 NA18990.hp1 NA19004.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0019 a0023 a0035	a0001c0001 a0002c0016 a0002c0052 others(5): Show a0001c0001 a0002c0016 a0002c0052 a0005c0023 a0005c0045 a0019c0034 a0023c0033 a0035c0037	a0001c0001t0001 a0001c0001t0002 a0002c0016t0009 others(6): Show a0001c0001t0001 a0001c0001t0002 a0002c0016t0009 a0002c0052t0025 a0005c0023t0020 a0005c0045t0018 a0019c0034t0001 a0023c0033t0001 a0035c0037t0005	a0001c0001t0001g0037 a0001c0001t0001g0076 a0001c0001t0002g0024 others(7): Show a0001c0001t0001g0037 a0001c0001t0001g0076 a0001c0001t0002g0024 a0002c0016t0009g0014 a0002c0052t0025g0095 a0005c0023t0020g0110 a0005c0045t0018g0118 a0019c0034t0001g0013 a0023c0033t0001g0089 a0035c0037t0005g0082	10	126	0.0794	18	c.908 others(39): Show c.9085-46322_9085-46305dupTCTCTCTCTCTCTCTCTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	60/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31522359	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0035 a0035	a0035c0037 a0035c0037	a0035c0037t0005 a0035c0037t0005	a0035c0037t0005g0082 a0035c0037t0005g0082	1	126	0.0079	18	c.821 others(39): Show c.8218-14907_8218-14906insTATATATATATATATATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31522363	C C	CTCTATAT others(11): Show CTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0032 a0032	a0032c0039 a0032c0039	a0032c0039t0003 a0032c0039t0003	a0032c0039t0003g0075 a0032c0039t0003g0075	1	126	0.0079	18	c.821 others(39): Show c.8218-14911_8218-14910insTATATATATATATATAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31522363	C C	CTCTCTAT others(11): Show CTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18970.hp1 HG03195.hp1 NA18970.hp1	a0004 a0026 a0004 a0026	a0004c0011 a0026c0025 a0004c0011 a0026c0025	a0004c0011t0001 a0026c0025t0006 a0004c0011t0001 a0026c0025t0006	a0004c0011t0001g0034 a0026c0025t0006g0108 a0004c0011t0001g0034 a0026c0025t0006g0108	2	126	0.0159	18	c.821 others(39): Show c.8218-14911_8218-14910insTATATATATATATAGAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31522363	C C	CTCTCTCT others(11): Show CTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0098 a0002c0012t0002g0098	1	126	0.0079	18	c.821 others(39): Show c.8218-14911_8218-14910insTATATATATATAGAGAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31522363	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0054 a0001c0054	a0001c0054t0001 a0001c0054t0001	a0001c0054t0001g0100 a0001c0054t0001g0100	1	126	0.0079	18	c.821 others(39): Show c.8218-14911_8218-14910insTATATAGAGAGAGAGAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31559640	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18955.hp1 HG02257.hp1 NA18955.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0004 a0004c0011t0001 a0001c0001t0004 a0004c0011t0001	a0001c0001t0004g0101 a0004c0011t0001g0085 a0001c0001t0004g0101 a0004c0011t0001g0085	2	126	0.0159	18	c.821 others(39): Show c.8218-52205_8218-52188dupTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31571254	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0087 a0004c0004t0001g0087	1	126	0.0079	18	c.821 others(39): Show c.8217+56401_8217+56418dupACACACACACACACACAC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31628915	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03579.hp1 NA18612.hp1 others(3): Show HG02683.hp1 HG03579.hp1 NA18612.hp1 NA18955.hp1 NA18970.hp1 NA18984.hp1	a0002 a0004 a0013 others(2): Show a0002 a0004 a0013 a0028 a0033	a0002c0012 a0004c0011 a0013c0060 others(2): Show a0002c0012 a0004c0011 a0013c0060 a0028c0030 a0033c0047	a0002c0012t0002 a0004c0011t0001 a0013c0060t0003 others(2): Show a0002c0012t0002 a0004c0011t0001 a0013c0060t0003 a0028c0030t0003 a0033c0047t0005	a0002c0012t0002g0098 a0004c0011t0001g0034 a0004c0011t0001g0085 others(3): Show a0002c0012t0002g0098 a0004c0011t0001g0034 a0004c0011t0001g0085 a0013c0060t0003g0072 a0028c0030t0003g0029 a0033c0047t0005g0081	6	126	0.0476	18	c.802 others(37): Show c.8028-1071_8028-1054dupATATATATATATATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	54/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31723623	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03139.hp1 HG03130.hp1 HG03139.hp1	a0005 a0014 a0005 a0014	a0005c0045 a0014c0051 a0005c0045 a0014c0051	a0005c0045t0018 a0014c0051t0011 a0005c0045t0018 a0014c0051t0011	a0005c0045t0018g0118 a0014c0051t0011g0121 a0005c0045t0018g0118 a0014c0051t0011g0121	2	126	0.0159	18	c.766 others(37): Show c.7660+5990_7660+6007dupGTGTGTGTGTGTGTGTGT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	52/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31766873	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02965.hp1 NA18966.hp1 others(2): Show HG02723.hp1 HG02965.hp1 NA18966.hp1 NA18988.hp1 NA19062.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0052 a0003c0008 a0004c0004 others(1): Show a0002c0052 a0003c0008 a0004c0004 a0004c0011	a0002c0052t0025 a0003c0008t0012 a0004c0004t0001 others(2): Show a0002c0052t0025 a0003c0008t0012 a0004c0004t0001 a0004c0004t0002 a0004c0011t0002	a0002c0052t0025g0095 a0003c0008t0012g0117 a0004c0004t0001g0006 others(2): Show a0002c0052t0025g0095 a0003c0008t0012g0117 a0004c0004t0001g0006 a0004c0004t0002g0086 a0004c0011t0002g0035	5	126	0.0397	18	c.754 others(37): Show c.7542+7069_7542+7086dupCACACACACACACACACA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	51/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31816794	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01069.hp1 HG01515.hp1 others(37): Show HG00673.hp1 HG01069.hp1 HG01515.hp1 HG01952.hp1 HG02015.hp1 HG02071.hp1 HG02129.hp1 HG02135.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02647.hp1 HG02895.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03490.hp1 HG04199.hp1 NA18612.hp1 NA18940.hp1 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18970.hp1 NA18984.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA19004.hp1 NA19043.hp1 NA19068.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0011 a0012 a0014 a0017 a0018 a0021 a0028 a0030 a0033 a0034 a0035	a0001c0001 a0001c0002 a0002c0005 others(24): Show a0001c0001 a0001c0002 a0002c0005 a0002c0009 a0002c0020 a0002c0024 a0002c0026 a0002c0059 a0003c0014 a0003c0062 a0004c0011 a0005c0007 a0005c0023 a0005c0057 a0006c0032 a0007c0018 a0011c0048 a0012c0035 a0014c0031 a0017c0038 a0018c0041 a0021c0061 a0028c0030 a0030c0029 a0033c0047 a0034c0050 a0035c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0002c0005t0007 a0002c0009t0001 a0002c0009t0010 a0002c0020t0028 a0002c0024t0011 a0002c0026t0006 a0002c0059t0012 a0003c0014t0001 a0003c0014t0010 a0003c0062t0001 a0004c0011t0001 a0005c0007t0007 a0005c0023t0020 a0005c0057t0001 a0006c0032t0003 a0007c0018t0001 a0011c0048t0001 a0012c0035t0001 a0014c0031t0001 a0017c0038t0001 a0018c0041t0001 a0021c0061t0001 a0028c0030t0003 a0030c0029t0001 a0033c0047t0005 a0034c0050t0001 a0035c0037t0005	a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0054 others(37): Show a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0054 a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0002g0032 a0001c0001t0016g0038 a0001c0002t0001g0051 a0001c0002t0001g0088 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0002g0056 a0002c0005t0007g0092 a0002c0009t0001g0065 a0002c0009t0010g0023 a0002c0020t0028g0010 a0002c0024t0011g0016 a0002c0026t0006g0111 a0002c0059t0012g0055 a0003c0014t0001g0059 a0003c0014t0010g0015 a0003c0062t0001g0078 a0004c0011t0001g0034 a0004c0011t0001g0085 a0005c0007t0007g0063 a0005c0023t0020g0110 a0005c0057t0001g0109 a0006c0032t0003g0077 a0007c0018t0001g0099 a0011c0048t0001g0057 a0012c0035t0001g0106 a0014c0031t0001g0096 a0017c0038t0001g0053 a0018c0041t0001g0046 a0021c0061t0001g0003 a0028c0030t0003g0029 a0030c0029t0001g0071 a0033c0047t0005g0081 a0034c0050t0001g0119 a0035c0037t0005g0082	40	126	0.3175	18	c.730 others(37): Show c.7309+3163_7309+3180dupTGTGTGTGTGTGTGTGTG	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	50/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31822653	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02735.hp1 HG03195.hp1 others(6): Show HG00140.hp1 HG02735.hp1 HG03195.hp1 HG03195.hp2 HG03492.hp1 HG03942.hp1 NA18747.hp1 NA18966.hp1 NA19060.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0015 a0026	a0001c0001 a0001c0002 a0002c0009 others(4): Show a0001c0001 a0001c0002 a0002c0009 a0004c0004 a0006c0006 a0015c0017 a0026c0025	a0001c0001t0001 a0001c0001t0008 a0001c0002t0013 others(5): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0013 a0002c0009t0010 a0004c0004t0001 a0006c0006t0008 a0015c0017t0001 a0026c0025t0006	a0001c0001t0001g0008 a0001c0001t0001g0090 a0001c0001t0008g0021 others(6): Show a0001c0001t0001g0008 a0001c0001t0001g0090 a0001c0001t0008g0021 a0001c0002t0013g0097 a0002c0009t0010g0023 a0004c0004t0001g0006 a0006c0006t0008g0031 a0015c0017t0001g0114 a0026c0025t0006g0108	9	126	0.0714	18	c.720 others(37): Show c.7201-2588_7201-2571dupACACACACACACACACAC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	49/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31845375	G G	GTCTCTCT others(11): Show GTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0015 a0003c0008t0015	a0003c0008t0015g0123 a0003c0008t0015g0123	1	126	0.0079	18	c.709 others(37): Show c.7099-8574_7099-8557dupGAGAGAGAGAGAGAGAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	48/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32027164	G G	GCACACAC others(11): Show GCACACACACACACACATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03486.hp2 HG02257.hp1 HG03486.hp2	a0001 a0027 a0001 a0027	a0001c0001 a0027c0046 a0001c0001 a0027c0046	a0001c0001t0004 a0027c0046t0029 a0001c0001t0004 a0027c0046t0029	a0001c0001t0004g0101 a0027c0046t0029g0126 a0001c0001t0004g0101 a0027c0046t0029g0126	2	126	0.0159	18	c.643 others(39): Show c.6439-58651_6439-58650insTATGTGTGTGTGTGTGTG	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32063187	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18948.hp1 NA18961.hp1 others(1): Show HG00609.hp1 NA18948.hp1 NA18961.hp1 NA18971.hp1	a0001 a0007 a0013 others(1): Show a0001 a0007 a0013 a0030	a0001c0001 a0007c0019 a0013c0049 others(1): Show a0001c0001 a0007c0019 a0013c0049 a0030c0029	a0001c0001t0016 a0007c0019t0001 a0013c0049t0001 others(1): Show a0001c0001t0016 a0007c0019t0001 a0013c0049t0001 a0030c0029t0001	a0001c0001t0016g0038 a0007c0019t0001g0052 a0013c0049t0001g0073 others(1): Show a0001c0001t0016g0038 a0007c0019t0001g0052 a0013c0049t0001g0073 a0030c0029t0001g0071	4	126	0.0318	18	c.643 others(39): Show c.6439-94691_6439-94674dupGTGTGTGTGTGTGTGTGT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32132993	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0058	1	126	0.0079	18	c.643 others(39): Show c.6438+83905_6438+83922dupAAAAAAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32190550	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0065 a0002c0009t0001g0065	1	126	0.0079	18	c.643 others(39): Show c.6438+26348_6438+26365dupTATATATATATATATATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32204976	A A	ATCTCTCT others(11): Show ATCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03486.hp1 HG02135.hp1 HG03486.hp1	a0003 a0005 a0003 a0005	a0003c0062 a0005c0053 a0003c0062 a0005c0053	a0003c0062t0001 a0005c0053t0004 a0003c0062t0001 a0005c0053t0004	a0003c0062t0001g0078 a0005c0053t0004g0103 a0003c0062t0001g0078 a0005c0053t0004g0103	2	126	0.0159	18	c.643 others(39): Show c.6438+11922_6438+11939dupGAGAGAGAGAGAGAGAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32205005	T T	TCTCTCTC others(11): Show TCTCTCTCACATACACACA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18966.hp1 NA19004.hp1 NA18959.hp1 NA18966.hp1 NA19004.hp1	a0001 a0004 a0035 a0001 a0004 a0035	a0001c0002 a0004c0004 a0035c0037 a0001c0002 a0004c0004 a0035c0037	a0001c0002t0001 a0004c0004t0001 a0035c0037t0005 a0001c0002t0001 a0004c0004t0001 a0035c0037t0005	a0001c0002t0001g0115 a0004c0004t0001g0006 a0035c0037t0005g0082 a0001c0002t0001g0115 a0004c0004t0001g0006 a0035c0037t0005g0082	3	126	0.0238	18	c.643 others(39): Show c.6438+11910_6438+11911insTGTGTGTATGTGAGAGAG	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar

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