Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
DLG5_chr10_77785791_77931755	77905034	AAGGAGAA others(15): Show AAGGAGAATCACTTGAACCCGGG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp1 HG03195.hp2 HG01243.hp1 HG02145.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0015t0001 a0001c0001t0001 a0001c0015t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0015t0001g0031 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0015t0001g0031	3	331	0.0091	-22	c.304 others(41): Show c.304+21161_304+21182delCCCGGGTTCAAGTGATTCTCCT	DLG5	ENSG00000151208.17	transcript	ENST00000372391.7	protein_coding	1/31			chr10	TogoVar
DLGAP1_chr18_3491032_4460307	3551168	TATATATA others(15): Show TATATATATACACATACATATAA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02451.hp2 HG02572.hp1 others(7): Show HG01192.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02970.hp1 HG03098.hp2 HG03453.hp2 HG03471.hp2 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008	a0001c0001t0003 a0001c0001t0005 a0001c0001t0037 others(7): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0037 a0001c0001t0042 a0001c0002t0031 a0001c0002t0034 a0001c0002t0040 a0001c0004t0032 a0001c0006t0005 a0001c0008t0025	a0001c0001t0003g0059 a0001c0001t0005g0042 a0001c0001t0037g0063 others(7): Show a0001c0001t0003g0059 a0001c0001t0005g0042 a0001c0001t0037g0063 a0001c0001t0042g0080 a0001c0002t0031g0061 a0001c0002t0034g0069 a0001c0002t0040g0055 a0001c0004t0032g0065 a0001c0006t0005g0007 a0001c0008t0025g0049	10	80	0.1250	-22	c.205 others(43): Show c.2057+16300_2057+16321delTTATATGTATGTGTATATATAT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	9/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3803957	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0003 a0003c0010t0003	a0003c0010t0003g0057 a0003c0010t0003g0057	1	80	0.0125	-22	c.117 others(43): Show c.1172+10080_1172+10101delATATATATATATATATATATAT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	5/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3892114	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG04184.hp1 NA21309.hp1 HG02486.hp2 HG04184.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0007 a0001c0002t0008 a0001c0006t0013 a0001c0001t0007 a0001c0002t0008 a0001c0006t0013	a0001c0001t0007g0028 a0001c0002t0008g0037 a0001c0006t0013g0073 a0001c0001t0007g0028 a0001c0002t0008g0037 a0001c0006t0013g0073	3	80	0.0375	-22	c.-72 others(41): Show c.-72-11996_-72-11975delGTGTGTGTGTGTGTGTGTGTGT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	3/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4057004	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0055 a0001c0002t0040g0055	1	80	0.0125	-22	c.-15 others(43): Show c.-158-51825_-158-51804delGTGTGTGTGTGTGTGTGTGTGT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	2/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	967816	CTATATAT others(15): Show CTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	40	0.0250	-22	c.73+ others(39): Show c.73+59887_73+59908delTATATATATATATATATATATA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1185705	ACACTCAC others(15): Show ACACTCACACACACACACACACT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02818.hp1 HG02895.hp1 others(6): Show HG01496.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02976.hp1 HG03486.hp2 HG03516.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0009 others(3): Show a0001c0002 a0001c0003 a0001c0009 a0002c0001 a0002c0007 a0003c0005	a0001c0002t0006 a0001c0002t0027 a0001c0003t0001 others(5): Show a0001c0002t0006 a0001c0002t0027 a0001c0003t0001 a0001c0003t0013 a0001c0009t0012 a0002c0001t0002 a0002c0007t0008 a0003c0005t0004	a0001c0002t0006g0011 a0001c0002t0027g0023 a0001c0003t0001g0026 others(6): Show a0001c0002t0006g0011 a0001c0002t0027g0023 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0013g0007 a0001c0009t0012g0006 a0002c0001t0002g0032 a0002c0007t0008g0040 a0003c0005t0004g0037	9	40	0.2250	-22	c.74- others(39): Show c.74-73142_74-73121delTCACACACACACACACACTCAC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP4_chr20_36301339_36533633	36317273	TTCTTATC others(15): Show TTCTTATCTTTCTTTCTTTCTTA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02818.hp2 HG02896.hp2 others(2): Show HG02572.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0004 a0001c0001t0001 a0001c0001t0004 a0001c0002t0004	a0001c0001t0001g0128 a0001c0001t0004g0134 a0001c0001t0004g0135 others(2): Show a0001c0001t0001g0128 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0002t0004g0127	5	144	0.0347	-22	c.-30 others(43): Show c.-304+10766_-304+10787delATCTTTCTTTCTTTCTTATCTT	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DLGAP4_chr20_36301339_36533633	36380593	AAGAGAGA others(15): Show AAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01496.hp1 HG02572.hp1 others(3): Show HG01346.hp1 HG01496.hp1 HG02572.hp1 HG02647.hp1 HG02738.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 a0001c0002t0004 a0001c0011t0001	a0001c0001t0001g0059 a0001c0001t0001g0124 a0001c0001t0005g0030 others(3): Show a0001c0001t0001g0059 a0001c0001t0001g0124 a0001c0001t0005g0030 a0001c0001t0014g0108 a0001c0002t0004g0127 a0001c0011t0001g0087	6	144	0.0417	-22	c.-73 others(41): Show c.-73+13368_-73+13389delGAGAGAGAGAGAGAGAGAGAGA	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DLGAP5_chr14_55143135_55196585	55169855	GCGGGCGC others(15): Show GCGGGCGCGGTGGCTCATGCCTA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01074.hp2 others(11): Show HG00741.hp1 HG01069.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01169.hp1 HG01175.hp1 HG01258.hp2 HG02738.hp2 HG03654.hp1 HG03710.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0003 a0002c0004t0001g0273 a0002c0004t0001g0274 others(9): Show a0002c0004t0001g0003 a0002c0004t0001g0273 a0002c0004t0001g0274 a0002c0004t0001g0276 a0002c0004t0001g0277 a0002c0004t0001g0278 a0002c0004t0001g0279 a0002c0004t0001g0280 a0002c0004t0001g0281 a0002c0004t0001g0282 a0002c0004t0001g0283 a0002c0004t0001g0285	14	362	0.0387	-22	c.138 others(39): Show c.1388-318_1388-297delTAGGCATGAGCCACCGCGCCCG	DLGAP5	ENSG00000126787.13	transcript	ENST00000247191.7	protein_coding	11/18			chr14	TogoVar
DMAC1_chr9_7791500_7804778	7796826	TAATACAT others(15): Show TAATACATACAACACAAAAAATG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG00738.hp1 others(36): Show HG00408.hp2 HG00621.hp1 HG00738.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02129.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02273.hp1 HG02523.hp1 HG03239.hp2 HG03669.hp2 NA18950.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18973.hp2 NA18980.hp1 NA18986.hp1 NA18994.hp2 NA19002.hp2 NA19004.hp1 NA19009.hp1 NA19057.hp1 NA19068.hp2 NA19076.hp1 NA19083.hp1 NA19085.hp2 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0034 a0002c0002t0039 a0002c0002t0005 a0002c0002t0034 a0002c0002t0039	a0002c0002t0005g0005 a0002c0002t0034g0047 a0002c0002t0039g0052 a0002c0002t0005g0005 a0002c0002t0034g0047 a0002c0002t0039g0052	39	474	0.0823	-22	c.17 others(33): Show c.1725_*1746delCATTTTTTGTGTTGTATGTATT	DMAC1	ENSG00000137038.8	transcript	ENST00000358227.5	protein_coding	2/2	1725		chr9	TogoVar
DMBT1_chr10_122555754_122648736	122634414	TCTCTCTC others(15): Show TCTCTCTCTCTCTCTCTTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG03942.hp1 NA18985.hp1 others(4): Show HG02027.hp1 HG03942.hp1 NA18985.hp1 NA18989.hp1 NA19010.hp2 NA19081.hp1 NA19091.hp1	a0002 a0003 a0059 a0002 a0003 a0059	a0002c0002 a0003c0017 a0059c0087 a0002c0002 a0003c0017 a0059c0087	a0002c0002t0001 a0003c0017t0001 a0059c0087t0001 a0002c0002t0001 a0003c0017t0001 a0059c0087t0001	a0002c0002t0001g0003 a0002c0002t0001g0019 a0002c0002t0001g0026 others(3): Show a0002c0002t0001g0003 a0002c0002t0001g0019 a0002c0002t0001g0026 a0002c0002t0001g0031 a0003c0017t0001g0100 a0059c0087t0001g0170	7	282	0.0248	-22	c.654 others(41): Show c.6548+1074_6548+1095delCTCTCTCTCTCTCTCTTCTCTC	DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	52/55			chr10	TogoVar
DMBT1_chr10_122555754_122648736	122634430	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02970.hp1 others(1): Show HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03225.hp1	a0032 a0036 a0048 a0032 a0036 a0048	a0032c0031 a0036c0035 a0048c0108 a0032c0031 a0036c0035 a0048c0108	a0032c0031t0003 a0036c0035t0003 a0048c0108t0003 a0032c0031t0003 a0036c0035t0003 a0048c0108t0003	a0032c0031t0003g0013 a0036c0035t0003g0173 a0048c0108t0003g0035 a0032c0031t0003g0013 a0036c0035t0003g0173 a0048c0108t0003g0035	4	282	0.0142	-22	c.654 others(41): Show c.6548+1119_6548+1140delCTCTCTCTCTCTCTCTCTCTCT	DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	52/55		INFO_REALIGN_3_PRIME	chr10	TogoVar
DMD_chrX_31114222_33216549	31138624	GGAGAGAG others(15): Show GGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18966.hp1 HG03486.hp2 NA18966.hp1	a0004 a0028 a0004 a0028	a0004c0004 a0028c0046 a0004c0004 a0028c0046	a0004c0004t0001 a0028c0046t0029 a0004c0004t0001 a0028c0046t0029	a0004c0004t0001g0006 a0028c0046t0029g0126 a0004c0004t0001g0006 a0028c0046t0029g0126	2	126	0.0159	-22	c.109 others(43): Show c.10922-4452_10922-4431delTCTCTCTCTCTCTCTCTCTCTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	76/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31187717	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0018 a0018	a0018c0061 a0018c0061	a0018c0061t0001 a0018c0061t0001	a0018c0061t0001g0003 a0018c0061t0001g0003	1	126	0.0079	-22	c.980 others(41): Show c.9808-4835_9808-4814delCTCTCTCTCTCTCTCTCTCTCT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	67/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31196819	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0049 a0002c0005t0001g0049	1	126	0.0079	-22	c.980 others(41): Show c.9807+7120_9807+7141delTTTTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	67/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31721668	ATCTCTCT others(15): Show ATCTCTCTCTCTCTCTCACTCTC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp1 HG02257.hp2 others(15): Show HG01074.hp1 HG01243.hp1 HG02257.hp2 HG02451.hp1 HG02602.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03195.hp2 NA18943.hp1 NA18961.hp1 NA18965.hp1 NA18984.hp1 NA18990.hp1 NA18995.hp1 NA19007.hp1 NA19043.hp1 NA20905.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0010 a0018 a0031 a0033 a0035 a0036	a0001c0001 a0001c0002 a0002c0005 others(13): Show a0001c0001 a0001c0002 a0002c0005 a0002c0009 a0002c0016 a0002c0052 a0003c0003 a0003c0008 a0003c0014 a0005c0007 a0010c0031 a0018c0061 a0031c0047 a0033c0050 a0035c0029 a0036c0021	a0001c0001t0002 a0001c0002t0003 a0002c0005t0001 others(15): Show a0001c0001t0002 a0001c0002t0003 a0002c0005t0001 a0002c0009t0002 a0002c0009t0010 a0002c0016t0001 a0002c0016t0009 a0002c0052t0025 a0003c0003t0001 a0003c0008t0023 a0003c0014t0001 a0005c0007t0002 a0010c0031t0001 a0018c0061t0001 a0031c0047t0005 a0033c0050t0001 a0035c0029t0001 a0036c0021t0017	a0001c0001t0002g0024 a0001c0002t0003g0113 a0002c0005t0001g0049 others(15): Show a0001c0001t0002g0024 a0001c0002t0003g0113 a0002c0005t0001g0049 a0002c0009t0002g0002 a0002c0009t0010g0023 a0002c0016t0001g0060 a0002c0016t0009g0014 a0002c0052t0025g0095 a0003c0003t0001g0027 a0003c0008t0023g0005 a0003c0014t0001g0059 a0005c0007t0002g0093 a0010c0031t0001g0096 a0018c0061t0001g0003 a0031c0047t0005g0081 a0033c0050t0001g0119 a0035c0029t0001g0071 a0036c0021t0017g0009	18	126	0.1429	-22	c.766 others(41): Show c.7660+7941_7660+7962delGAGAGTGAGAGAGAGAGAGAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	52/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31943878	TGAGAGAG others(15): Show TGAGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01255.hp1 HG01952.hp1 others(19): Show HG00140.hp1 HG01255.hp1 HG01952.hp1 HG02027.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG03017.hp1 HG03209.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG04228.hp1 NA18940.hp1 NA18944.hp1 NA18945.hp1 NA18966.hp1 NA19043.hp1 NA19058.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0026 a0028 a0029 a0032	a0001c0001 a0002c0005 a0002c0012 others(13): Show a0001c0001 a0002c0005 a0002c0012 a0002c0026 a0002c0059 a0003c0003 a0004c0004 a0005c0007 a0005c0053 a0006c0006 a0008c0010 a0010c0031 a0026c0042 a0028c0046 a0029c0044 a0032c0036	a0001c0001t0001 a0001c0001t0004 a0002c0005t0002 others(14): Show a0001c0001t0001 a0001c0001t0004 a0002c0005t0002 a0002c0012t0002 a0002c0026t0006 a0002c0059t0012 a0003c0003t0027 a0004c0004t0001 a0005c0007t0007 a0005c0053t0004 a0006c0006t0001 a0008c0010t0009 a0010c0031t0001 a0026c0042t0024 a0028c0046t0029 a0029c0044t0014 a0032c0036t0004	a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0026 others(19): Show a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0054 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0004g0101 a0002c0005t0002g0020 a0002c0012t0002g0122 a0002c0026t0006g0111 a0002c0059t0012g0055 a0003c0003t0027g0091 a0004c0004t0001g0006 a0005c0007t0007g0063 a0005c0053t0004g0103 a0006c0006t0001g0019 a0008c0010t0009g0004 a0010c0031t0001g0096 a0026c0042t0024g0070 a0028c0046t0029g0126 a0029c0044t0014g0094 a0032c0036t0004g0011	22	126	0.1746	-22	c.661 others(43): Show c.6615-11673_6615-11652delTCTCTCTCTCTCTCTCTCTCTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	45/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32042026	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	126	0.0079	-22	c.643 others(43): Show c.6439-73534_6439-73513delATATATATATATATATATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32076052	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0015 a0003c0008t0015	a0003c0008t0015g0123 a0003c0008t0015g0123	1	126	0.0079	-22	c.643 others(45): Show c.6439-107560_6439-107539delTTTTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32121620	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp2 HG03139.hp1 others(1): Show HG02145.hp1 HG02451.hp2 HG03139.hp1 HG03486.hp2	a0002 a0005 a0028 others(1): Show a0002 a0005 a0028 a0029	a0002c0024 a0005c0045 a0028c0046 others(1): Show a0002c0024 a0005c0045 a0028c0046 a0029c0044	a0002c0024t0011 a0005c0045t0018 a0028c0046t0029 others(1): Show a0002c0024t0011 a0005c0045t0018 a0028c0046t0029 a0029c0044t0014	a0002c0024t0011g0016 a0005c0045t0018g0118 a0028c0046t0029g0126 others(1): Show a0002c0024t0011g0016 a0005c0045t0018g0118 a0028c0046t0029g0126 a0029c0044t0014g0094	4	126	0.0318	-22	c.643 others(43): Show c.6438+95274_6438+95295delATATATATATATATATATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32199780	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0021 a0021	a0021c0035 a0021c0035	a0021c0035t0001 a0021c0035t0001	a0021c0035t0001g0106 a0021c0035t0001g0106	1	126	0.0079	-22	c.643 others(43): Show c.6438+17114_6438+17135delCACACACACACACACACACACA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32227264	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0044 a0008c0010t0001g0044	1	126	0.0079	-22	c.629 others(43): Show c.6291-10223_6291-10202delATATATATATATATATATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	43/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32252741	TATAAATA others(15): Show TATAAATATATATAAATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0020 a0005c0023t0020	a0005c0023t0020g0110 a0005c0023t0020g0110	1	126	0.0079	-22	c.629 others(43): Show c.6290+34766_6290+34787delTTATATATTTATATATATTTAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	43/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32554817	GGAGGGAG others(15): Show GGAGGGAGGGGGAGGGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02965.hp1 HG02451.hp1 HG02965.hp1	a0002 a0018 a0002 a0018	a0002c0052 a0018c0061 a0002c0052 a0018c0061	a0002c0052t0025 a0018c0061t0001 a0002c0052t0025 a0018c0061t0001	a0002c0052t0025g0095 a0018c0061t0001g0003 a0002c0052t0025g0095 a0018c0061t0001g0003	2	126	0.0159	-22	c.199 others(41): Show c.1993-9505_1993-9484delTCTCTCTCCCTCCCCCTCCCTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32983554	CACACACA others(15): Show CACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA19043.hp1 HG03195.hp2 NA19043.hp1	a0002 a0010 a0002 a0010	a0002c0009 a0010c0031 a0002c0009 a0010c0031	a0002c0009t0010 a0010c0031t0001 a0002c0009t0010 a0010c0031t0001	a0002c0009t0010g0023 a0010c0031t0001g0096 a0002c0009t0010g0023 a0010c0031t0001g0096	2	126	0.0159	-22	c.93+ others(39): Show c.93+36563_93+36584delATGTGTGTGTGTGTGTGTGTGT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33009424	ATATGTAT others(15): Show ATATGTATGTGTATACACATATG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00738.hp1 HG01069.hp1 others(48): Show HG00609.hp1 HG00738.hp1 HG01069.hp1 HG01074.hp1 HG01106.hp1 HG01167.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01934.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02293.hp2 HG02451.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03195.hp1 HG03195.hp2 HG03486.hp2 HG03490.hp1 HG03942.hp1 HG04228.hp1 NA18940.hp1 NA18943.hp1 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18971.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA19005.hp1 NA19007.hp1 NA19066.hp1 NA19068.hp1 NA19085.hp1	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0012 a0013 a0018 a0020 a0021 a0022 a0023 a0025 a0028 a0031 a0033	a0001c0001 a0001c0002 a0002c0005 others(26): Show a0001c0001 a0001c0002 a0002c0005 a0002c0009 a0002c0012 a0002c0016 a0003c0003 a0003c0014 a0003c0062 a0004c0004 a0004c0011 a0005c0007 a0005c0057 a0006c0006 a0006c0032 a0007c0019 a0008c0010 a0011c0049 a0012c0040 a0013c0015 a0018c0061 a0020c0034 a0021c0035 a0022c0025 a0023c0041 a0025c0039 a0028c0046 a0031c0047 a0033c0050	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0002c0005t0001 a0002c0005t0002 a0002c0009t0001 a0002c0009t0002 a0002c0009t0010 a0002c0012t0002 a0002c0016t0001 a0003c0003t0001 a0003c0003t0002 a0003c0014t0001 a0003c0062t0001 a0004c0004t0001 a0004c0011t0001 a0004c0011t0002 a0005c0007t0007 a0005c0057t0001 a0006c0006t0001 a0006c0032t0003 a0007c0019t0001 a0008c0010t0001 a0011c0049t0001 a0012c0040t0001 a0013c0015t0001 a0018c0061t0001 a0020c0034t0001 a0021c0035t0001 a0022c0025t0006 a0023c0041t0001 a0025c0039t0003 a0028c0046t0029 a0031c0047t0005 a0033c0050t0001	a0001c0001t0001g0026 a0001c0001t0001g0054 a0001c0001t0001g0069 others(48): Show a0001c0001t0001g0026 a0001c0001t0001g0054 a0001c0001t0001g0069 a0001c0001t0002g0024 a0001c0001t0002g0032 a0001c0001t0008g0021 a0001c0001t0013g0012 a0001c0002t0001g0051 a0001c0002t0001g0074 a0001c0002t0001g0088 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0115 a0001c0002t0002g0056 a0002c0005t0001g0022 a0002c0005t0001g0040 a0002c0005t0001g0049 a0002c0005t0002g0020 a0002c0009t0001g0065 a0002c0009t0002g0002 a0002c0009t0010g0023 a0002c0012t0002g0122 a0002c0016t0001g0060 a0003c0003t0001g0033 a0003c0003t0001g0067 a0003c0003t0002g0043 a0003c0014t0001g0059 a0003c0062t0001g0078 a0004c0004t0001g0041 a0004c0004t0001g0087 a0004c0011t0001g0085 a0004c0011t0002g0035 a0005c0007t0007g0063 a0005c0057t0001g0109 a0006c0006t0001g0047 a0006c0032t0003g0077 a0007c0019t0001g0052 a0007c0019t0001g0061 a0008c0010t0001g0042 a0011c0049t0001g0073 a0012c0040t0001g0048 a0013c0015t0001g0102 a0018c0061t0001g0003 a0020c0034t0001g0013 a0021c0035t0001g0106 a0022c0025t0006g0108 a0023c0041t0001g0046 a0025c0039t0003g0075 a0028c0046t0029g0126 a0031c0047t0005g0081 a0033c0050t0001g0119	51	126	0.4048	-22	c.93+ others(39): Show c.93+10693_93+10714delCATATGTGTATACACATACATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33083884	TCTACAGA others(15): Show TCTACAGACACCCCACAATGGGG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02145.hp1 HG02451.hp2 others(4): Show HG01255.hp1 HG02145.hp1 HG02451.hp2 HG02922.hp1 HG02922.hp2 HG03139.hp1 HG03579.hp1	a0002 a0005 a0017 others(1): Show a0002 a0005 a0017 a0029	a0002c0012 a0002c0024 a0005c0007 others(3): Show a0002c0012 a0002c0024 a0005c0007 a0005c0045 a0017c0027 a0029c0044	a0002c0012t0002 a0002c0024t0011 a0005c0007t0002 others(3): Show a0002c0012t0002 a0002c0024t0011 a0005c0007t0002 a0005c0045t0018 a0017c0027t0001 a0029c0044t0014	a0002c0012t0002g0098 a0002c0012t0002g0122 a0002c0024t0011g0016 others(4): Show a0002c0012t0002g0098 a0002c0012t0002g0122 a0002c0024t0011g0016 a0005c0007t0002g0093 a0005c0045t0018g0118 a0017c0027t0001g0124 a0029c0044t0014g0094	7	126	0.0556	-22	c.32- others(39): Show c.32-63706_32-63685delCCCCATTGTGGGGTGTCTGTAG	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33190986	ATATATAT others(15): Show ATATATATAATATATAATATTAT	A A	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0007 a0005c0007t0007	a0005c0007t0007g0063 a0005c0007t0007g0063	1	126	0.0079	-22	c.31+ others(39): Show c.31+20274_31+20295delATAATATTATATATTATATATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMGDH_chr5_78992564_79074674	79061220	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp1 HG02559.hp2 others(6): Show HG01884.hp2 HG02559.hp1 HG02559.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 NA18906.hp1 NA19240.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 others(5): Show a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0004c0005t0001g0026 a0004c0005t0001g0318 a0004c0005t0001g0319 a0004c0005t0001g0320 a0004c0005t0001g0321	9	372	0.0242	-22	c.276 others(39): Show c.276+2371_276+2392delGTGTGTGTGTGTGTGTGTGTGT	DMGDH	ENSG00000132837.15	transcript	ENST00000255189.8	protein_coding	2/15			chr5	TogoVar
DMP1_chr4_87645280_87669357	87653386	GATATATA others(15): Show GATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA19075.hp1 HG01346.hp1 NA19075.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0005 a0002c0001 a0003c0005	a0002c0001t0001 a0003c0005t0005 a0002c0001t0001 a0003c0005t0005	a0002c0001t0001g0069 a0003c0005t0005g0196 a0002c0001t0001g0069 a0003c0005t0005g0196	2	430	0.0047	-22	c.-22 others(39): Show c.-22+3028_-21-3039delTATATATATATATATATATATA	DMP1	ENSG00000152592.15	transcript	ENST00000339673.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
DMP1_chr4_87645280_87669357	87667338	CATATATA others(15): Show CATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02976.hp1 HG02559.hp1 HG02976.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0007 a0001c0004t0006 a0001c0004t0007	a0001c0004t0006g0033 a0001c0004t0007g0182 a0001c0004t0006g0033 a0001c0004t0007g0182	2	430	0.0047	-22	c.40 others(33): Show c.4019_*4040delATATATATATATATATATATAT	DMP1	ENSG00000152592.15	transcript	ENST00000339673.11	protein_coding		2982		chr4	TogoVar
DMP1_chr4_87645280_87669357	87667362	TATATATA others(15): Show TATATATATATATATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02572.hp2 HG02647.hp2 others(7): Show HG01884.hp1 HG02572.hp2 HG02647.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG03130.hp1 HG06807.hp1 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0008 a0001c0002 a0001c0004 a0001c0008	a0001c0002t0008 a0001c0004t0006 a0001c0008t0006 a0001c0002t0008 a0001c0004t0006 a0001c0008t0006	a0001c0002t0008g0048 a0001c0002t0008g0124 a0001c0004t0006g0051 others(5): Show a0001c0002t0008g0048 a0001c0002t0008g0124 a0001c0004t0006g0051 a0001c0004t0006g0130 a0001c0004t0006g0141 a0001c0004t0006g0151 a0001c0004t0006g0152 a0001c0008t0006g0058	10	430	0.0233	-22	c.40 others(33): Show c.4043_*4064delATATATATATATATATATATAC	DMP1	ENSG00000152592.15	transcript	ENST00000339673.11	protein_coding		3006		chr4	TogoVar
DMPK_chr19_45764717_45787490	45770203	CCCAGCAG others(15): Show CCCAGCAGCAGCAGCAGCAGCAG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0051 a0001c0001t0031g0051	1	416	0.0024	-22	c.26 others(31): Show c.263_*284delCTGCTGCTGCTGCTGCTGCTGG	DMPK	ENSG00000104936.20	transcript	ENST00000291270.9	protein_coding	15/15	263		chr19	TogoVar
DMRT1_chr9_836697_974090	911470	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02486.hp1 others(2): Show HG01884.hp1 HG02145.hp2 HG02486.hp1 HG02723.hp1 HG03486.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 a0003c0004t0013	a0001c0001t0001g0003 a0001c0001t0010g0125 a0001c0001t0010g0259 others(2): Show a0001c0001t0001g0003 a0001c0001t0010g0125 a0001c0001t0010g0259 a0001c0001t0013g0074 a0003c0004t0013g0090	5	306	0.0163	-22	c.823 others(39): Show c.823-5273_823-5252delTTTTTTTTTTTTTTTTTTTTTT	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRT3_chr9_971655_996732	987412	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0002 a0008c0015t0002	a0008c0015t0002g0184 a0008c0015t0002g0184	1	458	0.0022	-22	c.455 others(39): Show c.455-2605_455-2584delGTGTGTGTGTGTGTGTGTGTGT	DMRT3	ENSG00000064218.5	transcript	ENST00000190165.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRTB1_chr1_53454399_53472488	53465045	TTCCAGGT others(15): Show TTCCAGGTGAGGAAACCAGGGCC	T T	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0048	1	394	0.0025	-22	c.961 others(37): Show c.961+204_961+225delGTGAGGAAACCAGGGCCTCCAG	DMRTB1	ENSG00000143006.7	transcript	ENST00000371445.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
DMRTC1B_chrX_72771890_72853803	72817876	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0007 a0004c0004t0006g0007	1	26	0.0385	-22	c.-94 others(41): Show c.-94-27146_-94-27125delGTGTGTGTGTGTGTGTGTGTGT	DMRTC1B	ENSG00000184911.15	transcript	ENST00000334036.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
DMRTC2_chr19_41840042_41857333	41843056	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 NA18942.hp1 HG02451.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0001 a0001c0001t0001g0007	2	402	0.0050	-22	c.-20 others(33): Show c.-2049_-2028delAAAAAAAAAAAAAAAAAAAAAC	DMRTC2	ENSG00000142025.16	transcript	ENST00000269945.8	protein_coding		1985		chr19	TogoVar
DMXL2_chr15_51442791_51627771	51605517	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01978.hp2 HG00735.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0118 a0001c0001t0001g0119	2	346	0.0058	-22	c.87+ others(39): Show c.87+16920_87+16941delAAAAAAAAAAAAAAAAAAAAAA	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	1/43			chr15	TogoVar
DNAAF3_chr19_55153665_55171613	55160611	TGGCTTAC others(15): Show TGGCTTACCTGTTGTTGTCCCTG	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18955.hp2 NA18955.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0083 a0003c0002t0001g0083	1	398	0.0025	-22	c.104 others(36): Show c.1048+7_1048+28delCAGGGACAACAACAGGTAAGCC	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding	9/11			chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55164618	GGGTTCAA others(15): Show GGGTTCAAGTGATTCTCCTGCTT	G G	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	398	0.0025	-22	c.322 others(37): Show c.322+730_322+751delAAGCAGGAGAATCACTTGAACC	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding	4/11			chr19	TogoVar
DNAAF4_chr15_55425308_55513234	55483833	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01099.hp2 HG01257.hp1 others(1): Show HG00323.hp1 HG01099.hp2 HG01257.hp1 HG01943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0101 a0002c0002t0001g0220 others(1): Show a0002c0002t0001g0070 a0002c0002t0001g0101 a0002c0002t0001g0220 a0002c0002t0001g0222	4	338	0.0118	-22	c.405 others(39): Show c.405+7268_405+7289delAAAAAAAAAAAAAAAAAAAAAA	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	4/9			chr15	TogoVar
DNAAF9_chr20_3244306_3412669	3344590	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG06807.hp2 HG02109.hp1 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0044 a0001c0003t0009g0045 a0001c0003t0009g0044 a0001c0003t0009g0045	2	362	0.0055	-22	c.790 others(37): Show c.790-881_790-860delGTGTGTGTGTGTGTGTGTGTGT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	8/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3350134	CACACAGA others(15): Show CACACAGACACACAGACACACAG	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03579.hp2 HG03516.hp2 HG03579.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0015 a0001c0008t0015	a0001c0008t0015g0005 a0001c0008t0015g0006 a0001c0008t0015g0005 a0001c0008t0015g0006	2	362	0.0055	-22	c.691 others(39): Show c.691-1533_691-1512delCTGTGTGTCTGTGTGTCTGTGT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	7/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3372776	GTACCTCA others(15): Show GTACCTCAGAGGGTTACTATACC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(78): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01081.hp1 HG01099.hp1 HG01243.hp1 HG01256.hp2 HG01433.hp2 HG01891.hp2 HG01943.hp2 HG02015.hp2 HG02109.hp1 HG02129.hp1 HG02145.hp2 HG02155.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03942.hp1 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18940.hp2 NA18944.hp1 NA18948.hp1 NA18949.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18964.hp1 NA18966.hp1 NA18971.hp2 NA18981.hp1 NA18983.hp1 NA18985.hp2 NA18999.hp2 NA19000.hp2 NA19005.hp2 NA19007.hp1 NA19012.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19064.hp1 NA19067.hp1 NA19068.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp2 NA20129.hp1 NA20805.hp2	a0001 a0005 a0007 others(2): Show a0001 a0005 a0007 a0010 a0011	a0001c0003 a0001c0006 a0001c0008 others(4): Show a0001c0003 a0001c0006 a0001c0008 a0005c0022 a0007c0021 a0010c0019 a0011c0023	a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 others(12): Show a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0003t0012 a0001c0003t0022 a0001c0003t0026 a0001c0003t0038 a0001c0006t0008 a0001c0006t0023 a0001c0006t0025 a0001c0008t0015 a0005c0022t0005 a0007c0021t0004 a0010c0019t0005 a0011c0023t0005	a0001c0003t0004g0007 a0001c0003t0004g0011 a0001c0003t0004g0013 others(78): Show a0001c0003t0004g0007 a0001c0003t0004g0011 a0001c0003t0004g0013 a0001c0003t0004g0023 a0001c0003t0004g0024 a0001c0003t0004g0025 a0001c0003t0004g0026 a0001c0003t0004g0027 a0001c0003t0004g0029 a0001c0003t0004g0030 a0001c0003t0004g0032 a0001c0003t0004g0034 a0001c0003t0004g0035 a0001c0003t0004g0036 a0001c0003t0004g0037 a0001c0003t0004g0038 a0001c0003t0004g0040 a0001c0003t0004g0041 a0001c0003t0004g0042 a0001c0003t0004g0043 a0001c0003t0004g0046 a0001c0003t0004g0047 a0001c0003t0004g0048 a0001c0003t0004g0049 a0001c0003t0004g0050 a0001c0003t0004g0051 a0001c0003t0004g0052 a0001c0003t0004g0053 a0001c0003t0004g0054 a0001c0003t0004g0055 a0001c0003t0004g0056 a0001c0003t0004g0057 a0001c0003t0004g0058 a0001c0003t0005g0014 a0001c0003t0005g0015 a0001c0003t0005g0016 a0001c0003t0005g0017 a0001c0003t0005g0019 a0001c0003t0005g0021 a0001c0003t0005g0022 a0001c0003t0005g0028 a0001c0003t0005g0066 a0001c0003t0005g0323 a0001c0003t0005g0324 a0001c0003t0005g0325 a0001c0003t0005g0326 a0001c0003t0005g0327 a0001c0003t0005g0328 a0001c0003t0005g0330 a0001c0003t0005g0331 a0001c0003t0005g0332 a0001c0003t0005g0333 a0001c0003t0005g0335 a0001c0003t0005g0336 a0001c0003t0005g0337 a0001c0003t0005g0338 a0001c0003t0005g0339 a0001c0003t0005g0340 a0001c0003t0005g0358 a0001c0003t0009g0044 a0001c0003t0009g0045 a0001c0003t0009g0059 a0001c0003t0009g0060 a0001c0003t0012g0031 a0001c0003t0012g0033 a0001c0003t0012g0039 a0001c0003t0022g0012 a0001c0003t0026g0334 a0001c0003t0038g0359 a0001c0006t0008g0352 a0001c0006t0008g0353 a0001c0006t0008g0354 a0001c0006t0008g0356 a0001c0006t0023g0004 a0001c0006t0025g0355 a0001c0008t0015g0005 a0001c0008t0015g0006 a0005c0022t0005g0018 a0007c0021t0004g0357 a0010c0019t0005g0020 a0011c0023t0005g0329	81	362	0.2238	-22	c.612 others(39): Show c.612+1250_612+1271delGGTATAGTAACCCTCTGAGGTA	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	6/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3394942	CTTTTTTC others(15): Show CTTTTTTCTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp1 HG03516.hp1 HG02922.hp1 HG02965.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0041 a0001c0003t0004g0042 a0001c0003t0004g0043 a0001c0003t0004g0041 a0001c0003t0004g0042 a0001c0003t0004g0043	3	362	0.0083	-22	c.84- others(39): Show c.84-12458_84-12437delAAAAAAAAAAAAAAAGAAAAAA	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	1/36			chr20	TogoVar
DNAH11_chr7_21538039_21906839	21728237	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0178 a0178	a0178c0243 a0178c0243	a0178c0243t0002 a0178c0243t0002	a0178c0243t0002g0195 a0178c0243t0002g0195	1	298	0.0034	-22	c.744 others(41): Show c.7440+2270_7440+2291delTTTTTTTTTTTTTTTTTTTTTT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	45/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH12_chr3_57288700_57549344	57406599	GAAAAACA others(15): Show GAAAAACAAAATCTTTCAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG00639.hp2 others(106): Show HG00544.hp2 HG00621.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG02027.hp2 HG02055.hp1 HG02083.hp1 HG02129.hp2 HG02135.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18939.hp2 NA18940.hp1 NA18944.hp1 NA18949.hp2 NA18950.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18973.hp2 NA18979.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19005.hp1 NA19062.hp1 NA19065.hp2 NA19068.hp1 NA19077.hp1 NA19079.hp1 NA19089.hp1 NA20905.hp1 NA21309.hp1	a0001 a0005 a0007 others(29): Show a0001 a0005 a0007 a0008 a0009 a0011 a0013 a0014 a0016 a0017 a0019 a0020 a0022 a0027 a0029 a0033 a0039 a0042 a0043 a0045 a0048 a0049 a0050 a0051 a0053 a0054 a0055 a0062 a0063 a0064 a0065 a0070	a0001c0001 a0001c0026 a0001c0027 others(41): Show a0001c0001 a0001c0026 a0001c0027 a0001c0085 a0001c0086 a0001c0087 a0001c0088 a0005c0005 a0007c0008 a0007c0016 a0008c0007 a0009c0024 a0009c0025 a0011c0018 a0011c0043 a0013c0009 a0014c0014 a0016c0012 a0017c0062 a0017c0063 a0019c0030 a0019c0035 a0020c0019 a0022c0028 a0027c0058 a0027c0059 a0029c0039 a0033c0048 a0039c0031 a0042c0033 a0043c0037 a0045c0038 a0048c0052 a0049c0095 a0050c0090 a0051c0089 a0053c0093 a0054c0094 a0055c0084 a0062c0064 a0063c0061 a0064c0072 a0065c0057 a0070c0055	a0001c0001t0001 a0001c0001t0003 a0001c0026t0001 others(43): Show a0001c0001t0001 a0001c0001t0003 a0001c0026t0001 a0001c0027t0001 a0001c0085t0001 a0001c0086t0001 a0001c0087t0001 a0001c0088t0001 a0005c0005t0001 a0007c0008t0002 a0007c0016t0001 a0008c0007t0001 a0009c0024t0001 a0009c0025t0001 a0009c0025t0003 a0011c0018t0001 a0011c0043t0002 a0013c0009t0001 a0014c0014t0001 a0016c0012t0001 a0017c0062t0002 a0017c0063t0001 a0019c0030t0001 a0019c0035t0001 a0020c0019t0001 a0022c0028t0001 a0027c0058t0002 a0027c0059t0001 a0029c0039t0001 a0033c0048t0001 a0039c0031t0002 a0042c0033t0001 a0043c0037t0001 a0045c0038t0002 a0048c0052t0001 a0049c0095t0001 a0050c0090t0001 a0051c0089t0001 a0053c0093t0001 a0054c0094t0003 a0055c0084t0001 a0062c0064t0002 a0063c0061t0001 a0064c0072t0001 a0065c0057t0001 a0070c0055t0002	a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0170 others(106): Show a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0026t0001g0175 a0001c0027t0001g0185 a0001c0027t0001g0186 a0001c0085t0001g0222 a0001c0086t0001g0249 a0001c0087t0001g0248 a0001c0088t0001g0201 a0005c0005t0001g0181 a0005c0005t0001g0191 a0005c0005t0001g0194 a0005c0005t0001g0197 a0005c0005t0001g0200 a0005c0005t0001g0221 a0005c0005t0001g0224 a0005c0005t0001g0227 a0005c0005t0001g0228 a0005c0005t0001g0233 a0005c0005t0001g0240 a0007c0008t0002g0046 a0007c0008t0002g0078 a0007c0008t0002g0081 a0007c0008t0002g0083 a0007c0016t0001g0041 a0007c0016t0001g0045 a0008c0007t0001g0088 a0009c0024t0001g0183 a0009c0024t0001g0220 a0009c0025t0001g0266 a0009c0025t0003g0004 a0011c0018t0001g0010 a0011c0018t0001g0058 a0011c0043t0002g0079 a0013c0009t0001g0111 a0013c0009t0001g0115 a0013c0009t0001g0116 a0014c0014t0001g0187 a0014c0014t0001g0198 a0014c0014t0001g0241 a0016c0012t0001g0108 a0016c0012t0001g0109 a0016c0012t0001g0110 a0017c0062t0002g0252 a0017c0063t0001g0103 a0019c0030t0001g0147 a0019c0035t0001g0082 a0020c0019t0001g0005 a0020c0019t0001g0113 a0022c0028t0001g0234 a0022c0028t0001g0250 a0027c0058t0002g0037 a0027c0059t0001g0063 a0029c0039t0001g0062 a0033c0048t0001g0033 a0039c0031t0002g0085 a0042c0033t0001g0009 a0043c0037t0001g0043 a0045c0038t0002g0114 a0048c0052t0001g0239 a0049c0095t0001g0251 a0050c0090t0001g0182 a0051c0089t0001g0232 a0053c0093t0001g0150 a0054c0094t0003g0002 a0055c0084t0001g0189 a0062c0064t0002g0207 a0063c0061t0001g0077 a0064c0072t0001g0209 a0065c0057t0001g0039 a0070c0055t0002g0016	109	266	0.4098	-22	c.627 others(39): Show c.6277-669_6277-648delTTCTCTGAAAGATTTTGTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	40/73			chr3	TogoVar
DNAH14_chr1_224924675_225404286	225078768	ATCTCTCT others(15): Show ATCTCTCTCTCTCTCTCTCTCTC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0056 a0056	a0056c0059 a0056c0059	a0056c0059t0001 a0056c0059t0001	a0056c0059t0001g0223 a0056c0059t0001g0223	1	240	0.0042	-22	c.242 others(39): Show c.2425-404_2425-383delTCTCTCTCTCTCTCTCTCTCTC	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	17/85		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results (Total: 9631 hits)