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
DMD_chrX_31114222_33216549	32483146	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0112 a0002c0009t0002g0112	1	98	0.0102	28	c.280 others(47): Show c.2803+1772_2803+1773insATATATATATATATATATATATATAT AT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	21/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32483164	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG02145.hp1 others(7): Show HG01167.hp1 HG01243.hp1 HG02145.hp1 HG02647.hp1 HG03098.hp1 NA18948.hp1 NA18952.hp1 NA18965.hp1 NA18982.hp1 NA19062.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0020 a0030 a0031	a0001c0001 a0001c0002 a0002c0005 others(5): Show a0001c0001 a0001c0002 a0002c0005 a0002c0020 a0004c0004 a0020c0042 a0030c0047 a0031c0037	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0005t0001 a0002c0020t0019 a0004c0004t0002 a0020c0042t0011 a0030c0047t0013 a0031c0037t0004	a0001c0001t0001g0034 a0001c0001t0002g0019 a0001c0002t0001g0047 others(7): Show a0001c0001t0001g0034 a0001c0001t0002g0019 a0001c0002t0001g0047 a0002c0005t0001g0037 a0002c0005t0001g0088 a0002c0020t0019g0006 a0004c0004t0002g0083 a0020c0042t0011g0090 a0030c0047t0013g0005 a0031c0037t0004g0067	10	65	0.1538	28	c.280 others(47): Show c.2803+1754_2803+1755insGTATATATATATATATATATATATAT AT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	21/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32585699	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	2	0.5000	28	c.160 others(49): Show c.1602+10030_1602+10057dupTTTTTTTTTTTTTTTTTTTTTTTT TTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	13/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32828581	C C	CTATACAT others(21): Show CTATACATCTATACACATATATACATATG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0088 a0002c0005t0001g0088	1	126	0.0079	28	c.265 others(45): Show c.265-5222_265-5195dupCATATGTATATATGTGTATAGATGTATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	4/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32828594	C C	CACATATA others(21): Show CACATATATACATATGTATACATCTATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03195.hp1 HG02976.hp1 HG03195.hp1	a0002 a0026 a0002 a0026	a0002c0009 a0026c0024 a0002c0009 a0026c0024	a0002c0009t0002 a0026c0024t0008 a0002c0009t0002 a0026c0024t0008	a0002c0009t0002g0112 a0026c0024t0008g0105 a0002c0009t0002g0112 a0026c0024t0008g0105	2	126	0.0159	28	c.265 others(45): Show c.265-5208_265-5207insATATAGATGTATACATATGTATATATGT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	4/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32828622	C C	CACATATA others(21): Show CACATATATACATATGTATACATCTATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02451.hp2 HG02965.hp1 others(2): Show HG01255.hp1 HG02451.hp2 HG02965.hp1 HG02976.hp2 HG03486.hp1	a0002 a0005 a0002 a0005	a0002c0013 a0002c0023 a0002c0051 others(2): Show a0002c0013 a0002c0023 a0002c0051 a0005c0052 a0005c0056	a0002c0013t0002 a0002c0023t0009 a0002c0051t0003 others(2): Show a0002c0013t0002 a0002c0023t0009 a0002c0051t0003 a0005c0052t0006 a0005c0056t0001	a0002c0013t0002g0124 a0002c0023t0009g0011 a0002c0051t0003g0091 others(2): Show a0002c0013t0002g0124 a0002c0023t0009g0011 a0002c0051t0003g0091 a0005c0052t0006g0099 a0005c0056t0001g0103	5	122	0.0410	28	c.265 others(45): Show c.265-5263_265-5236dupATATAGATGTATACATATGTATATATGT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	4/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32863537	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0088 a0002c0005t0001g0088	1	5	0.2000	28	c.94- others(45): Show c.94-13745_94-13718dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32887745	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0035 a0035	a0035c0027 a0035c0027	a0035c0027t0001 a0035c0027t0001	a0035c0027t0001g0023 a0035c0027t0001g0023	1	44	0.0227	28	c.94- others(45): Show c.94-37953_94-37926dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32969027	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0044 a0006c0006t0001g0044	1	34	0.0294	28	c.93+ others(45): Show c.93+51084_93+51111dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32969027	C C	CCAAAAAA others(21): Show CCAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0007 a0003c0010t0007	a0003c0010t0007g0010 a0003c0010t0007g0010	1	34	0.0294	28	c.93+ others(45): Show c.93+51111_93+51112insTTTTTTTTTTTTTTTTTTTTTTTTTTTG	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33009885	C C	CATGTGTA others(21): Show CATGTGTATATGTGTGTGTATGTGTATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0005 a0008c0011t0005	a0008c0011t0005g0117 a0008c0011t0005g0117	1	118	0.0085	28	c.93+ others(45): Show c.93+10253_93+10254insATATACACATACACACACATATACACAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33070673	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	54	0.0185	28	c.32- others(45): Show c.32-50474_32-50473insTATAGAGAGAGAGAGAGAGAGAGAGAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33108868	G G	GAAAAAAA others(21): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0022 a0022	a0022c0057 a0022c0057	a0022c0057t0015 a0022c0057t0015	a0022c0057t0015g0115 a0022c0057t0015g0115	1	14	0.0714	28	c.32- others(45): Show c.32-88669_32-88668insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33163552	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0017 a0003c0003t0017	a0003c0003t0017g0087 a0003c0003t0017g0087	1	110	0.0091	28	c.31+ others(45): Show c.31+47729_31+47730insTATATATATATATATATATATATATATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33163620	C C	CTATCTAT others(21): Show CTATCTATCTATCTATCTATGTATCTATG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02055.hp1 HG01255.hp1 HG02055.hp1	a0002 a0003 a0002 a0003	a0002c0013 a0003c0008 a0002c0013 a0003c0008	a0002c0013t0002 a0003c0008t0002 a0002c0013t0002 a0003c0008t0002	a0002c0013t0002g0124 a0003c0008t0002g0125 a0002c0013t0002g0124 a0003c0008t0002g0125	2	126	0.0159	28	c.31+ others(45): Show c.31+47661_31+47662insCATAGATACATAGATAGATAGATAGATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33163624	C C	CTATCTAT others(21): Show CTATCTATCTATCTATCTATGTATCTATG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0116 a0003c0008t0003g0116	1	110	0.0091	28	c.31+ others(45): Show c.31+47657_31+47658insCATAGATACATAGATAGATAGATAGATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMRTB1_chr1_53454399_53472488	53458073	C C	CAGAGAGA others(21): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02965.hp1 HG00639.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	2	153	0.0131	28	c.-13 others(39): Show c.-1381_-1380insAGAGAGAGAGAGAGAGAGAGAGAGAGAG	DMRTB1	ENSG00000143006.7	transcript	ENST00000371445.3	protein_coding		1325		chr1	TogoVar
DMTN_chr8_22051814_22087525	22078403	T T	TCATATAT others(21): Show TCATATATATGTATATATGTGAATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03486.hp1 HG02258.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0043 a0001c0001t0011g0059 a0001c0001t0011g0043 a0001c0001t0011g0059	2	322	0.0062	28	c.836 others(45): Show c.836-1759_836-1732dupGTGAATATATACATATATATGTATATAT	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMXL1_chr5_119066087_119254127	119173774	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0040 a0009c0013t0001g0040	1	211	0.0047	28	c.668 others(47): Show c.6682-1486_6682-1485insATATATATATATATATATATATATAT AT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173776	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01255.hp1 HG02015.hp2 others(9): Show HG00558.hp1 HG01255.hp1 HG02015.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG03491.hp1 HG03492.hp1 HG03927.hp1 NA18959.hp2 NA19009.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0003t0004 a0002c0003t0006	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 others(9): Show a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0002t0001g0096 a0001c0002t0001g0104 a0001c0002t0001g0129 a0002c0003t0001g0088 a0002c0003t0001g0103 a0002c0003t0004g0086 a0002c0003t0006g0091	12	74	0.1622	28	c.668 others(47): Show c.6682-1463_6682-1462insTATATATATATATATATATATATATA TA	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173776	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18959.hp1 HG02622.hp1 NA18959.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0014 a0002c0003t0004 a0001c0002t0014 a0002c0003t0004	a0001c0002t0014g0132 a0002c0003t0004g0063 a0001c0002t0014g0132 a0002c0003t0004g0063	2	64	0.0313	28	c.668 others(47): Show c.6682-1484_6682-1483insGTATATATATATATATATATATATAT AT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL2_chr15_51442791_51627771	51502306	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18747.hp1 NA18952.hp1 others(1): Show HG00597.hp2 NA18747.hp1 NA18952.hp1 NA18971.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0202 a0004c0005t0001g0319 a0004c0005t0001g0321 others(1): Show a0004c0005t0001g0202 a0004c0005t0001g0319 a0004c0005t0001g0321 a0004c0005t0001g0323	4	191	0.0209	28	c.299 others(45): Show c.2992+472_2992+499dupCACACACACACACACACACACACACACA	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	17/43			chr15	TogoVar
DNAAF10_chr2_68124805_68162527	68130115	G G	GAGAGAGA others(21): Show GAGAGAGATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0248 a0001c0001t0029g0248	1	124	0.0081	28	c.11 others(39): Show c.1122_*1123insATATATATATATATATATATATCTCTCT	DNAAF10	ENSG00000243667.7	transcript	ENST00000295121.11	protein_coding	8/8	1122		chr2	TogoVar
DNAAF10_chr2_68124805_68162527	68130115	G G	GAGAGATA others(21): Show GAGAGATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0240 a0001c0001t0037g0240	1	124	0.0081	28	c.11 others(39): Show c.1122_*1123insATATATATATATATATATATATATCTCT	DNAAF10	ENSG00000243667.7	transcript	ENST00000295121.11	protein_coding	8/8	1122		chr2	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTCTCTTT others(21): Show CTCTCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0006 a0005c0014t0006	a0005c0014t0006g0377 a0005c0014t0006g0377	1	78	0.0128	28	c.125 others(43): Show c.125-410_125-409insCTCTTTTTTTTTTTTTTTTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02895.hp2 HG02293.hp2 HG02895.hp2	a0006 a0009 a0006 a0009	a0006c0006 a0009c0012 a0006c0006 a0009c0012	a0006c0006t0001 a0009c0012t0001 a0006c0006t0001 a0009c0012t0001	a0006c0006t0001g0365 a0009c0012t0001g0366 a0006c0006t0001g0365 a0009c0012t0001g0366	2	79	0.0253	28	c.125 others(43): Show c.125-393_125-392insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84168827	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02683.hp2 HG00280.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	2	29	0.0690	28	c.103 others(47): Show c.1031-1029_1031-1002dupACACACACACACACACACACACACAC AC	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF3_chr19_55153665_55171613	55168406	T T	TATATAGA others(21): Show TATATAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0095 a0002c0003t0001g0095	1	149	0.0067	28	c.-18 others(39): Show c.-1889_-1888insCTCTCTCTCTCTCTCTCTCTCTCTATAT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1794		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55169933	G G	GTATTTAT others(21): Show GTATTTATTTATTTATTTATTTATTTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18971.hp1 NA18955.hp2 NA18971.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0002 a0003c0002t0001g0075 a0003c0002t0001g0002 a0003c0002t0001g0075	2	215	0.0093	28	c.-34 others(39): Show c.-3416_-3415insAATAAATAAATAAATAAATAAATAAATA	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		3321		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55170850	T T	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01928.hp1 HG01978.hp1 others(6): Show HG01106.hp1 HG01928.hp1 HG01978.hp1 HG01993.hp2 HG02273.hp1 HG02273.hp2 HG03669.hp2 NA18950.hp2 NA18998.hp1	a0003 a0005 a0003 a0005	a0003c0002 a0005c0008 a0003c0002 a0005c0008	a0003c0002t0001 a0005c0008t0001 a0003c0002t0001 a0005c0008t0001	a0003c0002t0001g0002 a0003c0002t0001g0006 a0003c0002t0001g0007 others(2): Show a0003c0002t0001g0002 a0003c0002t0001g0006 a0003c0002t0001g0007 a0003c0002t0001g0037 a0005c0008t0001g0036	9	290	0.0310	28	c.-43 others(39): Show c.-4333_-4332insGAGAGAGAGAGAGAGAGAGAGAGAGAGA	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4238		chr19	TogoVar
DNAAF6_chrX_107201611_107249247	107204677	C C	CATTTTAA others(21): Show CATTTTAAATAAATTATTTATTTAAATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG03492.hp1 HG03704.hp1 others(2): Show HG01993.hp2 HG03492.hp1 HG03704.hp1 HG03831.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0030 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0030 a0001c0001t0001g0060	5	212	0.0236	28	c.-20 others(39): Show c.-2017_-2016insATTTTAAATAAATTATTTATTTAAATAA	DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding		1933		chrX	TogoVar
DNAAF6_chrX_107201611_107249247	107204893	A A	ATTATTTA others(21): Show ATTATTTAAATAAATTTTAAATAAATTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01106.hp1 HG01255.hp1 HG01081.hp2 HG01106.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0022 a0001c0001t0001g0030	3	174	0.0172	28	c.-18 others(39): Show c.-1801_-1800insTTATTTAAATAAATTTTAAATAAATTAT	DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding		1717		chrX	TogoVar
DNAAF9_chr20_3244306_3412669	3310333	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	43	0.0233	28	c.167 others(47): Show c.1678+4672_1678+4699dupCTTTCTTTCTTTCTTTCTTTCTTTCT TT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	20/36			chr20	TogoVar
DNAH10_chr12_123757301_123940714	123911990	G G	GGGGGGGT others(21): Show GGGGGGGTCTGTGTTGGGGTGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18906.hp2 NA18979.hp2 HG02055.hp2 NA18906.hp2 NA18979.hp2	a0005 a0006 a0037 a0005 a0006 a0037	a0005c0065 a0006c0027 a0037c0052 a0005c0065 a0006c0027 a0037c0052	a0005c0065t0001 a0006c0027t0001 a0037c0052t0001 a0005c0065t0001 a0006c0027t0001 a0037c0052t0001	a0005c0065t0001g0043 a0006c0027t0001g0115 a0037c0052t0001g0052 a0005c0065t0001g0043 a0006c0027t0001g0115 a0037c0052t0001g0052	3	139	0.0216	28	c.101 others(49): Show c.10135-1097_10135-1096insGTTGGGGTGTCTGTCCTGGGGGGT CTGT	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912065	G G	GGGGGGGT others(21): Show GGGGGGGTCTGTCCCGGGGGGTCTGTCCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00741.hp2 HG01168.hp1 others(23): Show HG00544.hp1 HG00741.hp2 HG01168.hp1 HG01169.hp1 HG01433.hp2 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG02027.hp1 HG02109.hp1 HG02630.hp2 HG02717.hp2 HG03209.hp2 HG03688.hp2 HG04184.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18960.hp1 NA18977.hp2 NA18979.hp1 NA20905.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0028 a0036 a0049 a0063 a0065	a0001c0001 a0001c0002 a0001c0041 others(12): Show a0001c0001 a0001c0002 a0001c0041 a0001c0058 a0002c0011 a0002c0029 a0003c0019 a0004c0050 a0005c0065 a0006c0026 a0028c0069 a0036c0055 a0049c0039 a0063c0056 a0065c0034	a0001c0001t0001 a0001c0002t0002 a0001c0041t0001 others(12): Show a0001c0001t0001 a0001c0002t0002 a0001c0041t0001 a0001c0058t0001 a0002c0011t0001 a0002c0029t0001 a0003c0019t0002 a0004c0050t0001 a0005c0065t0001 a0006c0026t0002 a0028c0069t0001 a0036c0055t0002 a0049c0039t0001 a0063c0056t0001 a0065c0034t0001	a0001c0001t0001g0020 a0001c0001t0001g0058 a0001c0001t0001g0059 others(23): Show a0001c0001t0001g0020 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0114 a0001c0002t0002g0072 a0001c0002t0002g0107 a0001c0002t0002g0113 a0001c0002t0002g0116 a0001c0002t0002g0161 a0001c0041t0001g0159 a0001c0058t0001g0033 a0002c0011t0001g0164 a0002c0029t0001g0131 a0002c0029t0001g0142 a0003c0019t0002g0093 a0004c0050t0001g0136 a0005c0065t0001g0043 a0006c0026t0002g0081 a0028c0069t0001g0057 a0036c0055t0002g0069 a0049c0039t0001g0018 a0063c0056t0001g0073 a0065c0034t0001g0056	26	165	0.1576	28	c.101 others(49): Show c.10135-1027_10135-1026insTCTGTCCCGGGGGGTCTGTCCCGG GGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912096	G G	GGGGGGGT others(21): Show GGGGGGGTCTGTCCCGGGGGGTCTGTCCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp1 HG01884.hp2 others(10): Show HG00642.hp1 HG01109.hp1 HG01884.hp2 HG02055.hp1 HG02280.hp2 HG02615.hp1 HG02717.hp1 HG02896.hp2 HG02965.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp1	a0007 a0009 a0013 others(5): Show a0007 a0009 a0013 a0017 a0024 a0030 a0039 a0046	a0007c0010 a0007c0097 a0009c0008 others(7): Show a0007c0010 a0007c0097 a0009c0008 a0013c0079 a0013c0080 a0017c0024 a0024c0016 a0030c0064 a0039c0085 a0046c0038	a0007c0010t0001 a0007c0097t0001 a0009c0008t0001 others(7): Show a0007c0010t0001 a0007c0097t0001 a0009c0008t0001 a0013c0079t0001 a0013c0080t0001 a0017c0024t0001 a0024c0016t0001 a0030c0064t0001 a0039c0085t0001 a0046c0038t0001	a0007c0010t0001g0127 a0007c0010t0001g0128 a0007c0097t0001g0126 others(10): Show a0007c0010t0001g0127 a0007c0010t0001g0128 a0007c0097t0001g0126 a0009c0008t0001g0011 a0009c0008t0001g0019 a0013c0079t0001g0080 a0013c0080t0001g0004 a0017c0024t0001g0005 a0024c0016t0001g0102 a0024c0016t0001g0103 a0030c0064t0001g0109 a0039c0085t0001g0066 a0046c0038t0001g0119	13	168	0.0774	28	c.101 others(47): Show c.10135-996_10135-995insTCTGTCCCGGGGGGTCTGTCCCGGGG GG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH11_chr7_21538039_21906839	21645676	T T	TATATCTA others(21): Show TATATCTAAAAATCAGATATCTAAATCAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01993.hp1 HG02055.hp2 others(17): Show HG00738.hp2 HG01993.hp1 HG02055.hp2 HG02145.hp2 HG02257.hp1 HG02717.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03239.hp2 HG03471.hp1 HG03516.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2	a0005 a0007 a0057 others(17): Show a0005 a0007 a0057 a0090 a0106 a0110 a0128 a0129 a0133 a0134 a0135 a0140 a0141 a0144 a0149 a0154 a0157 a0163 a0178 a0179	a0005c0161 a0007c0212 a0057c0171 others(17): Show a0005c0161 a0007c0212 a0057c0171 a0090c0239 a0106c0220 a0110c0134 a0128c0248 a0129c0183 a0133c0076 a0134c0121 a0135c0221 a0140c0185 a0141c0240 a0144c0034 a0149c0260 a0154c0250 a0157c0125 a0163c0145 a0178c0033 a0179c0175	a0005c0161t0008 a0007c0212t0001 a0057c0171t0001 others(17): Show a0005c0161t0008 a0007c0212t0001 a0057c0171t0001 a0090c0239t0003 a0106c0220t0001 a0110c0134t0001 a0128c0248t0001 a0129c0183t0004 a0133c0076t0004 a0134c0121t0001 a0135c0221t0001 a0140c0185t0001 a0141c0240t0004 a0144c0034t0001 a0149c0260t0015 a0154c0250t0002 a0157c0125t0004 a0163c0145t0001 a0178c0033t0001 a0179c0175t0001	a0005c0161t0008g0099 a0007c0212t0001g0214 a0057c0171t0001g0293 others(17): Show a0005c0161t0008g0099 a0007c0212t0001g0214 a0057c0171t0001g0293 a0090c0239t0003g0216 a0106c0220t0001g0200 a0110c0134t0001g0078 a0128c0248t0001g0231 a0129c0183t0004g0211 a0133c0076t0004g0084 a0134c0121t0001g0085 a0135c0221t0001g0233 a0140c0185t0001g0224 a0141c0240t0004g0132 a0144c0034t0001g0004 a0149c0260t0015g0226 a0154c0250t0002g0133 a0157c0125t0004g0236 a0163c0145t0001g0240 a0178c0033t0001g0244 a0179c0175t0001g0001	20	294	0.0680	28	c.494 others(47): Show c.4944+6680_4944+6707dupCAGATATCTAAATCAGATATCTAAAA AT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	28/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTCTT others(21): Show TCTTTCTTTCTTTCTTTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA20752.hp1 NA18957.hp1 NA20752.hp1	a0006 a0222 a0006 a0222	a0006c0214 a0222c0068 a0006c0214 a0222c0068	a0006c0214t0006 a0222c0068t0004 a0006c0214t0006 a0222c0068t0004	a0006c0214t0006g0174 a0222c0068t0004g0251 a0006c0214t0006g0174 a0222c0068t0004g0251	2	48	0.0417	28	c.100 others(47): Show c.10026+466_10026+467insCTTTCTTTCTTTCTTTTTTCTTTCTT TC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTCTT others(21): Show TCTTTCTTTCTTTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01981.hp1 HG00544.hp2 HG01981.hp1	a0019 a0088 a0019 a0088	a0019c0083 a0088c0023 a0019c0083 a0088c0023	a0019c0083t0004 a0088c0023t0005 a0019c0083t0004 a0088c0023t0005	a0019c0083t0004g0039 a0088c0023t0005g0119 a0019c0083t0004g0039 a0088c0023t0005g0119	2	48	0.0417	28	c.100 others(47): Show c.10026+466_10026+467insCTTTCTTTCTTTTTTCTTTCTTTCTT TC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTCTT others(21): Show TCTTTCTTTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02970.hp1 HG00544.hp1 HG02970.hp1	a0005 a0139 a0005 a0139	a0005c0155 a0139c0067 a0005c0155 a0139c0067	a0005c0155t0003 a0139c0067t0013 a0005c0155t0003 a0139c0067t0013	a0005c0155t0003g0022 a0139c0067t0013g0081 a0005c0155t0003g0022 a0139c0067t0013g0081	2	48	0.0417	28	c.100 others(47): Show c.10026+466_10026+467insCTTTCTTTTTTCTTTCTTTCTTTCTT TC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTTTT others(21): Show TCTTTTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02155.hp2 NA19085.hp2 HG02109.hp2 HG02155.hp2 NA19085.hp2	a0098 a0109 a0219 a0098 a0109 a0219	a0098c0053 a0109c0126 a0219c0208 a0098c0053 a0109c0126 a0219c0208	a0098c0053t0001 a0109c0126t0002 a0219c0208t0006 a0098c0053t0001 a0109c0126t0002 a0219c0208t0006	a0098c0053t0001g0102 a0109c0126t0002g0042 a0219c0208t0006g0176 a0098c0053t0001g0102 a0109c0126t0002g0042 a0219c0208t0006g0176	3	49	0.0612	28	c.100 others(47): Show c.10026+466_10026+467insCTTTTTTCTTTCTTTCTTTCTTTCTT TC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar
DNAH12_chr3_57288700_57549344	57302567	A A	ATATATAT others(21): Show ATATATATATATATATATGTATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	99	0.0101	28	c.111 others(47): Show c.11190-629_11190-628insAAAAAAAATACATATATATATATATA TA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	69/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57302567	A A	ATATATAT others(21): Show ATATATATATATATATGTATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0119 a0002c0002t0001g0119	1	99	0.0101	28	c.111 others(47): Show c.11190-629_11190-628insAAAAAAAAAATACATATATATATATA TA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	69/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57333329	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0052 a0052	a0052c0054 a0052c0054	a0052c0054t0002 a0052c0054t0002	a0052c0054t0002g0016 a0052c0054t0002g0016	1	147	0.0068	28	c.997 others(47): Show c.9978+1135_9978+1136insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	62/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57361444	C C	CACTATAT others(21): Show CACTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01243.hp2 HG02895.hp2 others(2): Show HG01169.hp2 HG01243.hp2 HG02895.hp2 HG02897.hp2 HG03486.hp1	a0009 a0016 a0035 a0009 a0016 a0035	a0009c0014 a0016c0043 a0035c0038 a0009c0014 a0016c0043 a0035c0038	a0009c0014t0001 a0016c0043t0002 a0035c0038t0001 a0009c0014t0001 a0016c0043t0002 a0035c0038t0001	a0009c0014t0001g0187 a0009c0014t0001g0198 a0009c0014t0001g0241 others(2): Show a0009c0014t0001g0187 a0009c0014t0001g0198 a0009c0014t0001g0241 a0016c0043t0002g0079 a0035c0038t0001g0042	5	147	0.0340	28	c.936 others(47): Show c.9360+2149_9360+2150insTATATATATATATATATATATATATA GT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	58/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0066 a0010c0015t0001g0066	1	134	0.0075	28	c.730 others(47): Show c.7305+2049_7305+2050insTATATATATATATATATATATATATA CA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTGTAT others(21): Show GTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0072 a0004c0004t0001g0072	1	134	0.0075	28	c.730 others(47): Show c.7305+2049_7305+2050insTATATATATATATATATATATATACA CA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389839	T T	TATATATA others(21): Show TATATATATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0013 a0013	a0013c0010 a0013c0010	a0013c0010t0002 a0013c0010t0002	a0013c0010t0002g0253 a0013c0010t0002g0253	1	155	0.0065	28	c.730 others(47): Show c.7305+2032_7305+2033insTTTTATATATATATATATATATATAT AT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389839	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19240.hp1 HG02976.hp2 NA19240.hp1	a0013 a0070 a0013 a0070	a0013c0010 a0070c0051 a0013c0010 a0070c0051	a0013c0010t0002 a0070c0051t0001 a0013c0010t0002 a0070c0051t0001	a0013c0010t0002g0260 a0070c0051t0001g0258 a0013c0010t0002g0260 a0070c0051t0001g0258	2	156	0.0128	28	c.730 others(47): Show c.7305+2032_7305+2033insTTATATATATATATATATATATATAT AT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0029 a0029	a0029c0053 a0029c0053	a0029c0053t0001 a0029c0053t0001	a0029c0053t0001g0265 a0029c0053t0001g0265	1	82	0.0122	28	c.730 others(47): Show c.7305+1447_7305+1448insATATATATATTTTTTTTTTTTTTTTT TT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar

Search by Variant

Search

Search Results