Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
DLC1_chr8_13078361_13519851	13453387	G G	GATATATA others(21): Show GATATATATATATATGTGTATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02165.hp1 HG02647.hp1 others(1): Show HG00280.hp1 HG02165.hp1 HG02647.hp1 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0001 a0002c0002t0050 a0002c0006t0008 a0001c0001t0001 a0002c0002t0050 a0002c0006t0008	a0001c0001t0001g0089 a0001c0001t0001g0129 a0002c0002t0050g0209 others(1): Show a0001c0001t0001g0089 a0001c0001t0001g0129 a0002c0002t0050g0209 a0002c0006t0008g0052	4	175	0.0229	28	c.102 others(49): Show c.1023+45634_1023+45661dupATATATATATACACATATATATAT ATAT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13453387	G G	GATATATA others(21): Show GATATATATATATATGTGTGTATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	172	0.0058	28	c.102 others(49): Show c.1023+45661_1023+45662insATATATATACACACATATATATAT ATAT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13453406	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01081.hp1 HG02630.hp1 others(3): Show HG00423.hp2 HG01081.hp1 HG02630.hp1 HG02965.hp2 NA18966.hp2 NA19085.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003	a0001c0001t0012 a0001c0004t0003 a0002c0002t0051 others(1): Show a0001c0001t0012 a0001c0004t0003 a0002c0002t0051 a0003c0003t0004	a0001c0001t0012g0205 a0001c0001t0012g0210 a0001c0004t0003g0049 others(3): Show a0001c0001t0012g0205 a0001c0001t0012g0210 a0001c0004t0003g0049 a0001c0004t0003g0051 a0002c0002t0051g0204 a0003c0003t0004g0134	6	208	0.0288	28	c.102 others(49): Show c.1023+45642_1023+45643insCACATATATATATATATATATATA TATA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13506581	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0007 a0002c0006t0007	a0002c0006t0007g0201 a0002c0006t0007g0201	1	75	0.0133	28	c.-12 others(47): Show c.-125-6386_-125-6385insTATATATATATATATATACACACACA CA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	1/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13506581	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0018 a0002c0021t0018	a0002c0021t0018g0012 a0002c0021t0018g0012	1	75	0.0133	28	c.-12 others(47): Show c.-125-6386_-125-6385insTATATATATATATACACACACACACA CA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	1/17			chr8	TogoVar
DLG2_chr11_83450173_85632344	84624857	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0002 a0001c0002t0009g0002	1	3	0.3333	28	c.358 others(47): Show c.358-90127_358-90126insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	6/27			chr11	TogoVar
DLG4_chr17_7182187_7222627	7184629	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00597.hp2 others(39): Show HG00280.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp2 HG01243.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01884.hp2 HG01934.hp2 HG02004.hp2 HG02055.hp1 HG02257.hp1 HG02897.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18966.hp1 NA18975.hp2 NA18983.hp2 NA18985.hp2 NA19000.hp2 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(30): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0018 a0001c0001t0021 a0001c0001t0028 a0001c0001t0035 a0001c0001t0061 a0001c0001t0064 a0001c0001t0070 a0001c0001t0078 a0001c0001t0103 a0001c0001t0110 a0001c0001t0114 a0001c0001t0147 a0001c0001t0162 a0001c0001t0185 a0001c0001t0189 a0001c0001t0208 a0001c0002t0004 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0033 a0001c0002t0057 a0001c0002t0102 a0001c0002t0137 a0001c0002t0170 a0001c0002t0172 a0001c0007t0207	a0001c0001t0002g0300 a0001c0001t0002g0319 a0001c0001t0003g0298 others(38): Show a0001c0001t0002g0300 a0001c0001t0002g0319 a0001c0001t0003g0298 a0001c0001t0006g0054 a0001c0001t0007g0027 a0001c0001t0010g0234 a0001c0001t0010g0245 a0001c0001t0010g0292 a0001c0001t0014g0045 a0001c0001t0014g0057 a0001c0001t0018g0025 a0001c0001t0021g0241 a0001c0001t0028g0209 a0001c0001t0035g0038 a0001c0001t0061g0324 a0001c0001t0064g0051 a0001c0001t0070g0053 a0001c0001t0078g0313 a0001c0001t0103g0338 a0001c0001t0110g0028 a0001c0001t0114g0029 a0001c0001t0147g0325 a0001c0001t0162g0036 a0001c0001t0185g0062 a0001c0001t0189g0257 a0001c0001t0208g0225 a0001c0002t0004g0091 a0001c0002t0004g0131 a0001c0002t0004g0156 a0001c0002t0008g0095 a0001c0002t0008g0170 a0001c0002t0009g0015 a0001c0002t0011g0165 a0001c0002t0011g0172 a0001c0002t0033g0060 a0001c0002t0057g0148 a0001c0002t0102g0067 a0001c0002t0137g0166 a0001c0002t0170g0171 a0001c0002t0172g0136 a0001c0007t0207g0267	42	134	0.3134	28	c.60 others(39): Show c.6078_*6079insTATATATATATATATATATATATATATA	DLG4	ENSG00000132535.22	transcript	ENST00000399506.9	protein_coding		2557		chr17	TogoVar
DLG4_chr17_7182187_7222627	7184632	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 NA19240.hp2 HG02976.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0088 a0001c0001t0080 a0001c0001t0088	a0001c0001t0080g0206 a0001c0001t0088g0210 a0001c0001t0080g0206 a0001c0001t0088g0210	2	82	0.0244	28	c.60 others(39): Show c.6075_*6076insATATATATATATATATATATATATATAT	DLG4	ENSG00000132535.22	transcript	ENST00000399506.9	protein_coding		2554		chr17	TogoVar
DLG4_chr17_7182187_7222627	7211821	C C	CGGGGGGG others(21): Show CGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0026 a0001c0001t0063g0026	1	200	0.0050	28	c.31- others(43): Show c.31-3583_31-3582insCCCCCCCCCCCCCCCCCCCCCCCCCCCC	DLG4	ENSG00000132535.22	transcript	ENST00000399506.9	protein_coding	1/19			chr17	TogoVar
DLG5_chr10_77785791_77931755	77876703	A A	AAGGGAGG others(21): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01169.hp1 NA18975.hp2 NA19003.hp1 HG01169.hp1 NA18975.hp2 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0198 a0001c0002t0002g0215 a0001c0002t0002g0235 a0001c0002t0002g0198 a0001c0002t0002g0215 a0001c0002t0002g0235	3	241	0.0124	28	c.305 others(45): Show c.305-7507_305-7506insCCCTCCCTCCCTCCCTCCCTCCCTCCCT	DLG5	ENSG00000151208.17	transcript	ENST00000372391.7	protein_coding	1/31			chr10	TogoVar
DLG5_chr10_77785791_77931755	77916904	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02280.hp1 HG02486.hp2 others(4): Show HG00621.hp2 HG02280.hp1 HG02486.hp2 HG02886.hp1 HG02976.hp1 HG03098.hp1 NA18959.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0015 a0002c0004 others(1): Show a0001c0003 a0001c0015 a0002c0004 a0002c0016	a0001c0003t0003 a0001c0015t0001 a0002c0004t0004 others(1): Show a0001c0003t0003 a0001c0015t0001 a0002c0004t0004 a0002c0016t0004	a0001c0003t0003g0112 a0001c0003t0003g0114 a0001c0015t0001g0151 others(4): Show a0001c0003t0003g0112 a0001c0003t0003g0114 a0001c0015t0001g0151 a0001c0015t0001g0152 a0002c0004t0004g0132 a0002c0004t0004g0153 a0002c0016t0004g0146	7	68	0.1029	28	c.304 others(45): Show c.304+9312_304+9313insATATATATATATATATATATATATATAT	DLG5	ENSG00000151208.17	transcript	ENST00000372391.7	protein_coding	1/31			chr10	TogoVar
DLGAP1_chr18_3491032_4460307	3551158	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0053 a0001c0001t0012g0053	1	6	0.1667	28	c.205 others(49): Show c.2057+16331_2057+16332insATATATATATATATATATATATAT ATAT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	9/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3551722	C C	CCCTCCCT others(21): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0052 a0001c0005t0001g0052	1	52	0.0192	28	c.205 others(49): Show c.2057+15767_2057+15768insAAGGGAGGGAGGGAGGGAGGGAGG GAGG	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	9/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3833130	A A	ATTCCTTC others(21): Show ATTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0053 a0001c0001t0012g0053	1	2	0.5000	28	c.958 others(47): Show c.958-18885_958-18858dupGGAAGGAAGGAAGGAAGGAAGGAAGG AA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	4/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	1014303	C C	CGACGCCT others(21): Show CGACGCCTCCACTGTGTGTGACCAGGACA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	28	c.73+ others(47): Show c.73+106356_73+106357insACCAGGACAGACGCCTCCACTGTGTG TG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1015441	T T	TGACCAGG others(21): Show TGACCAGGACAGACGCCTCCACTGTGTGA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	28	c.73+ others(47): Show c.73+107489_73+107490insCCTCCACTGTGTGAGACCAGGACAGA CG	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(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0033 a0001c0003t0006g0033	1	21	0.0476	28	c.74- others(45): Show c.74-31677_74-31676insTATATATATATATATATATATATATATA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1430011	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0033 a0001c0003t0006g0033	1	20	0.0500	28	c.107 others(47): Show c.107-71338_107-71337insTATATATATACATATATATATATATA TA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1483664	G G	GCAGGGAG others(21): Show GCAGGGAGGCAGGTGCAGGAGGTGGGGAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01071.hp2 others(28): Show HG00639.hp2 HG01071.hp1 HG01071.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02258.hp1 HG02258.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02818.hp1 HG02895.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03710.hp1 HG03710.hp2 NA18906.hp1 NA18906.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0001c0009 others(6): Show a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0001c0012 a0002c0001 a0002c0004 a0002c0007 a0004c0008	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(25): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0002t0022 a0001c0002t0023 a0001c0002t0027 a0001c0003t0001 a0001c0003t0006 a0001c0003t0013 a0001c0003t0014 a0001c0003t0024 a0001c0009t0012 a0001c0010t0025 a0001c0012t0004 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0007 a0002c0001t0011 a0002c0001t0019 a0002c0001t0020 a0002c0004t0003 a0002c0004t0018 a0002c0007t0008 a0004c0008t0016	a0001c0002t0001g0015 a0001c0002t0002g0022 a0001c0002t0006g0011 others(28): Show a0001c0002t0001g0015 a0001c0002t0002g0022 a0001c0002t0006g0011 a0001c0002t0009g0039 a0001c0002t0010g0008 a0001c0002t0022g0034 a0001c0002t0023g0005 a0001c0002t0027g0023 a0001c0003t0001g0025 a0001c0003t0006g0033 a0001c0003t0013g0007 a0001c0003t0014g0020 a0001c0003t0024g0003 a0001c0009t0012g0006 a0001c0010t0025g0012 a0001c0012t0004g0036 a0002c0001t0001g0018 a0002c0001t0002g0013 a0002c0001t0002g0032 a0002c0001t0003g0017 a0002c0001t0003g0021 a0002c0001t0005g0029 a0002c0001t0005g0035 a0002c0001t0007g0038 a0002c0001t0011g0002 a0002c0001t0019g0031 a0002c0001t0020g0024 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0007t0008g0040 a0004c0008t0016g0028	31	38	0.8158	28	c.107 others(47): Show c.107-17682_107-17655dupGGTGGGGACCAGGGAGGCAGGTGCAG GA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1483707	C C	CAGGAGGT others(21): Show CAGGAGGTGGGGACCAGGGAGGCAGGTGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02895.hp1 HG02922.hp1 others(1): Show HG01496.hp2 HG02895.hp1 HG02922.hp1 HG03516.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0005 a0001c0003 a0003c0005	a0001c0003t0001 a0003c0005t0002 a0003c0005t0004 a0001c0003t0001 a0003c0005t0002 a0003c0005t0004	a0001c0003t0001g0026 a0001c0003t0001g0027 a0003c0005t0002g0030 others(1): Show a0001c0003t0001g0026 a0001c0003t0001g0027 a0003c0005t0002g0030 a0003c0005t0004g0037	4	40	0.1000	28	c.107 others(47): Show c.107-17655_107-17654insGGTGGGGACCAGGGAGGCAGGTGTAG GA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1683834	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03492.hp1 HG02647.hp2 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0007 a0002c0001t0002 a0002c0001t0007	a0002c0001t0002g0013 a0002c0001t0007g0038 a0002c0001t0002g0013 a0002c0001t0007g0038	2	29	0.0690	28	c.270 others(47): Show c.2704+5228_2704+5229insATATATATATATATATATATATATAT AT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP3_chr1_34860436_34934650	34906016	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01346.hp1 HG02015.hp2 others(11): Show HG00673.hp2 HG01346.hp1 HG02015.hp2 HG02040.hp2 HG02148.hp2 HG02293.hp2 HG02523.hp1 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG03710.hp1 HG04184.hp2 NA18945.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0049 others(11): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0049 a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0104 a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0196 a0001c0001t0001g0220 a0001c0001t0005g0009	14	28	0.5000	28	c.-51 others(43): Show c.-51-583_-51-582insTATATATATATATATATATATATATATA	DLGAP3	ENSG00000116544.12	transcript	ENST00000373347.6	protein_coding	2/11			chr1	TogoVar
DLGAP3_chr1_34860436_34934650	34906016	T T	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03540.hp1 HG01243.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0239 a0001c0001t0002g0157 a0001c0001t0001g0239 a0001c0001t0002g0157	2	16	0.1250	28	c.-51 others(43): Show c.-51-583_-51-582insTATATATATATATATATATATATATAAA	DLGAP3	ENSG00000116544.12	transcript	ENST00000373347.6	protein_coding	2/11			chr1	TogoVar
DLK2_chr6_43445352_43460548	43452412	C C	CTCTACTA others(21): Show CTCTACTAAAAATACAAACATTTAGGCGT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	368	0.0027	28	c.272 others(43): Show c.272-329_272-328insACGCCTAAATGTTTGTATTTTTAGTAGA	DLK2	ENSG00000171462.15	transcript	ENST00000372488.8	protein_coding	4/5			chr6	TogoVar
DMBX1_chr1_46484836_46521216	46501192	C C	CCCTCCCT others(21): Show CCCTCCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0074 a0001c0004t0006g0074	1	244	0.0041	28	c.-12 others(45): Show c.-12-5804_-12-5803insCCCTTCCTTCCTTCCTTCCTTCCTTCCT	DMBX1	ENSG00000197587.12	transcript	ENST00000360032.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
DMBX1_chr1_46484836_46521216	46501192	C C	CCCTTCCT others(21): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01243.hp2 HG01943.hp1 others(7): Show HG01071.hp1 HG01243.hp2 HG01943.hp1 HG02258.hp1 HG02886.hp2 HG02976.hp1 HG03579.hp1 NA18987.hp1 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0004 a0001c0002t0015 a0001c0002t0024 others(2): Show a0001c0002t0004 a0001c0002t0015 a0001c0002t0024 a0001c0005t0007 a0001c0005t0019	a0001c0002t0004g0032 a0001c0002t0004g0108 a0001c0002t0004g0126 others(6): Show a0001c0002t0004g0032 a0001c0002t0004g0108 a0001c0002t0004g0126 a0001c0002t0004g0230 a0001c0002t0015g0178 a0001c0002t0024g0168 a0001c0005t0007g0094 a0001c0005t0019g0214 a0001c0005t0019g0215	10	253	0.0395	28	c.-12 others(45): Show c.-12-5783_-12-5782insCCTTCCTTCCTTCCTTCCTTCCTTCCTT	DMBX1	ENSG00000197587.12	transcript	ENST00000360032.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
DMBX1_chr1_46484836_46521216	46501213	C C	CCTTCCTT others(21): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03688.hp2 HG03710.hp2 others(1): Show HG00280.hp2 HG03688.hp2 HG03710.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0020 a0001c0002t0045 others(1): Show a0001c0002t0003 a0001c0002t0020 a0001c0002t0045 a0001c0002t0046	a0001c0002t0003g0004 a0001c0002t0020g0164 a0001c0002t0045g0016 others(1): Show a0001c0002t0003g0004 a0001c0002t0020g0164 a0001c0002t0045g0016 a0001c0002t0046g0016	4	274	0.0146	28	c.-12 others(45): Show c.-12-5783_-12-5782insCCTTCCTTCCTTCCTTCCTTCCTTTCTT	DMBX1	ENSG00000197587.12	transcript	ENST00000360032.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
DMBX1_chr1_46484836_46521216	46501213	C C	CCTTCCTT others(21): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02074.hp2 HG02559.hp2 others(3): Show HG00741.hp1 HG02074.hp2 HG02559.hp2 HG02683.hp1 NA18946.hp2 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0007 others(1): Show a0001c0002 a0001c0004 a0001c0007 a0002c0006	a0001c0002t0003 a0001c0004t0006 a0001c0007t0003 others(1): Show a0001c0002t0003 a0001c0004t0006 a0001c0007t0003 a0002c0006t0018	a0001c0002t0003g0004 a0001c0002t0003g0018 a0001c0004t0006g0073 others(2): Show a0001c0002t0003g0004 a0001c0002t0003g0018 a0001c0004t0006g0073 a0001c0007t0003g0017 a0002c0006t0018g0019	6	276	0.0217	28	c.-12 others(45): Show c.-12-5783_-12-5782insCCTTCCTTCCTTCCTTCCTTTCTTTCTT	DMBX1	ENSG00000197587.12	transcript	ENST00000360032.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
DMBX1_chr1_46484836_46521216	46501213	C C	CCTTCCTT others(21): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18967.hp2 NA19030.hp2 others(1): Show HG02080.hp1 NA18967.hp2 NA19030.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0003 a0001c0001t0006 a0001c0002t0003	a0001c0001t0006g0182 a0001c0002t0003g0004 a0001c0002t0003g0154 a0001c0001t0006g0182 a0001c0002t0003g0004 a0001c0002t0003g0154	4	274	0.0146	28	c.-12 others(45): Show c.-12-5783_-12-5782insCCTTCCTTCCTTCCTTTCTTTCTTTCTT	DMBX1	ENSG00000197587.12	transcript	ENST00000360032.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
DMBX1_chr1_46484836_46521216	46501213	C C	CCTTCCTT others(21): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0152 a0001c0002t0008g0152	1	271	0.0037	28	c.-12 others(45): Show c.-12-5783_-12-5782insCCTTCCTTCCTTTCTTTCTTTCTTTCTT	DMBX1	ENSG00000197587.12	transcript	ENST00000360032.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
DMC1_chr22_38513948_38575183	38557956	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19087.hp1 NA18994.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0241 a0001c0001t0001g0242	2	135	0.0148	28	c.327 others(45): Show c.327-2548_327-2547insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	DMC1	ENSG00000100206.11	transcript	ENST00000216024.7	protein_coding	5/13			chr22	TogoVar
DMD_chrX_31114222_33216549	31314742	C C	CAGAGAGA others(21): Show CAGAGAGAGAGAGAGAGAGAGAGAAAGAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp2 HG03139.hp1 HG01243.hp1 HG02451.hp2 HG03139.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0023 a0005c0043 a0001c0001 a0002c0023 a0005c0043	a0001c0001t0002 a0002c0023t0009 a0005c0043t0014 a0001c0001t0002 a0002c0023t0009 a0005c0043t0014	a0001c0001t0002g0019 a0002c0023t0009g0011 a0005c0043t0014g0118 a0001c0001t0002g0019 a0002c0023t0009g0011 a0005c0043t0014g0118	3	82	0.0366	28	c.922 others(47): Show c.9224+8855_9224+8856insCTCTTTCTCTCTCTCTCTCTCTCTCT CT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31341891	G G	GCGCGCGC others(21): Show GCGCGCGCGCGCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA20752.hp1 HG01261.hp1 NA20752.hp1	a0005 a0010 a0005 a0010	a0005c0007 a0010c0014 a0005c0007 a0010c0014	a0005c0007t0001 a0010c0014t0001 a0005c0007t0001 a0010c0014t0001	a0005c0007t0001g0120 a0010c0014t0001g0014 a0005c0007t0001g0120 a0010c0014t0001g0014	2	52	0.0385	28	c.916 others(47): Show c.9163+6664_9163+6665insTGTGTGTGTGTGTGTGCGCGCGCGCG CG	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	61/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31394938	T T	TGAGAGAG others(21): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02723.hp1 HG02895.hp1 HG01255.hp1 HG02723.hp1 HG02895.hp1	a0002 a0003 a0002 a0003	a0002c0013 a0002c0058 a0003c0008 a0002c0013 a0002c0058 a0003c0008	a0002c0013t0002 a0002c0058t0003 a0003c0008t0003 a0002c0013t0002 a0002c0058t0003 a0003c0008t0003	a0002c0013t0002g0124 a0002c0058t0003g0051 a0003c0008t0003g0116 a0002c0013t0002g0124 a0002c0058t0003g0051 a0003c0008t0003g0116	3	43	0.0698	28	c.908 others(49): Show c.9085-46305_9085-46304insTCTCTCTCTCTCTCTCTCTCTCTC TCTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	60/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31425695	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0009 a0002c0023t0009	a0002c0023t0009g0011 a0002c0023t0009g0011	1	115	0.0087	28	c.908 others(49): Show c.9084+18785_9084+18786insGTGTGTGTGTGTGTGTGTGTGTGT GTGT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	60/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31425706	A A	ACACACAC others(21): Show ACACACACACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0023 a0023	a0023c0031 a0023c0031	a0023c0031t0001 a0023c0031t0001	a0023c0031t0001g0086 a0023c0031t0001g0086	1	126	0.0079	28	c.908 others(49): Show c.9084+18774_9084+18775insCGTGTGTGTGTGTGTGTGTGTGTG TGTG	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	60/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31425708	A A	ACACACAC others(21): Show ACACACACACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA18943.hp1 NA18952.hp1 HG01255.hp1 NA18943.hp1 NA18952.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0013 a0003c0010 a0001c0002 a0002c0013 a0003c0010	a0001c0002t0001 a0002c0013t0002 a0003c0010t0001 a0001c0002t0001 a0002c0013t0002 a0003c0010t0001	a0001c0002t0001g0047 a0002c0013t0002g0124 a0003c0010t0001g0055 a0001c0002t0001g0047 a0002c0013t0002g0124 a0003c0010t0001g0055	3	85	0.0353	28	c.908 others(49): Show c.9084+18772_9084+18773insCGTGTGTGTGTGTGTGTGTGTGTG TGTG	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	60/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31522363	C C	CTCTCTAT others(21): Show CTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0018 a0003c0008t0018	a0003c0008t0018g0001 a0003c0008t0018g0001	1	31	0.0323	28	c.821 others(49): Show c.8218-14911_8218-14910insTATATATATATATATATATATATA GAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31522363	C C	CTCTCTCT others(21): Show CTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0014 a0014	a0014c0050 a0014c0050	a0014c0050t0009 a0014c0050t0009	a0014c0050t0009g0123 a0014c0050t0009g0123	1	31	0.0323	28	c.821 others(49): Show c.8218-14911_8218-14910insTATATATATATATATATATAGAGA GAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31522363	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0073 a0005c0007t0001g0073	1	31	0.0323	28	c.821 others(49): Show c.8218-14911_8218-14910insTATATATATATATATAGAGAGAGA GAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31522363	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0080 a0004c0004t0001g0080	1	31	0.0323	28	c.821 others(49): Show c.8218-14911_8218-14910insTATATATATATATAGAGAGAGAGA GAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31522363	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0016 a0016	a0016c0055 a0016c0055	a0016c0055t0001 a0016c0055t0001	a0016c0055t0001g0041 a0016c0055t0001g0041	1	31	0.0323	28	c.821 others(49): Show c.8218-14911_8218-14910insTAGAGAGAGAGAGAGAGAGAGAGA GAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31559640	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0095 a0007c0018t0001g0095	1	92	0.0109	28	c.821 others(49): Show c.8218-52188_8218-52187insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31628915	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0047	1	50	0.0200	28	c.802 others(47): Show c.8028-1054_8028-1053insATATATATATATATATATATATATAT AT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	54/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31845031	T T	TATATATA others(21): Show TATATATATATATATGTATATGTGTATAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01256.hp1 HG03130.hp1 others(4): Show HG00280.hp1 HG01256.hp1 HG03130.hp1 HG03139.hp1 HG03486.hp1 HG03579.hp1 HG03942.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0014	a0001c0001 a0002c0013 a0003c0003 others(3): Show a0001c0001 a0002c0013 a0003c0003 a0005c0043 a0005c0052 a0014c0050	a0001c0001t0003 a0002c0013t0002 a0003c0003t0002 others(3): Show a0001c0001t0003 a0002c0013t0002 a0003c0003t0002 a0005c0043t0014 a0005c0052t0006 a0014c0050t0009	a0001c0001t0003g0016 a0001c0001t0003g0035 a0002c0013t0002g0094 others(4): Show a0001c0001t0003g0016 a0001c0001t0003g0035 a0002c0013t0002g0094 a0003c0003t0002g0027 a0005c0043t0014g0118 a0005c0052t0006g0099 a0014c0050t0009g0123	7	124	0.0565	28	c.709 others(47): Show c.7099-8213_7099-8212insGTATACACATATACATATATATATAT AT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	48/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31845375	G G	GTCTCTCT others(21): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0046 a0003c0003t0001g0046	1	11	0.0909	28	c.709 others(47): Show c.7099-8584_7099-8557dupGAGAGAGAGAGAGAGAGAGAGAGAGA GA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	48/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32085654	G G	GTATATAT others(21): Show GTATATATACGTATATATACACACGCGTA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0018 a0003c0008t0018	a0003c0008t0018g0001 a0003c0008t0018g0001	1	72	0.0139	28	c.643 others(51): Show c.6439-117168_6439-117141dupTACGCGTGTGTATATATACGTA TATATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32298514	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0012 a0002c0020t0012	a0002c0020t0012g0121 a0002c0020t0012g0121	1	76	0.0132	28	c.611 others(49): Show c.6118-10814_6118-10813insATATATATATATATATATATATAT ATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	42/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32312942	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp1 HG01934.hp1 others(5): Show HG00280.hp1 HG00673.hp1 HG01934.hp1 HG02015.hp1 HG02071.hp1 HG03017.hp1 NA18995.hp1 NA20905.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0017 a0033	a0001c0001 a0001c0002 a0003c0003 others(3): Show a0001c0001 a0001c0002 a0003c0003 a0004c0004 a0017c0036 a0033c0049	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0003c0003t0001 a0004c0004t0001 a0017c0036t0001 a0033c0049t0001	a0001c0001t0001g0050 a0001c0001t0003g0035 a0001c0002t0001g0100 others(5): Show a0001c0001t0001g0050 a0001c0001t0003g0035 a0001c0002t0001g0100 a0001c0002t0001g0101 a0003c0003t0001g0022 a0004c0004t0001g0084 a0017c0036t0001g0049 a0033c0049t0001g0119	8	35	0.2286	28	c.592 others(47): Show c.5923-2667_5923-2666insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	41/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32435275	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	43	0.0233	28	c.407 others(47): Show c.4071+2965_4071+2966insATATATATATATATATATATATATAT AT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	29/78			chrX	TogoVar

Search by Variant

Search

Search Results