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
RTL4_chrX_112078016_112462514	112161889	T T	TTTCTTTC others(15): Show TTTCTTTCTTTCTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02132.hp1 HG02630.hp1 others(3): Show HG02015.hp1 HG02132.hp1 HG02630.hp1 NA18522.hp1 NA18960.hp1 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0015 a0002c0001t0001 a0001c0003t0015 a0002c0001t0001	a0001c0003t0015g0125 a0002c0001t0001g0020 a0002c0001t0001g0049 others(3): Show a0001c0003t0015g0125 a0002c0001t0001g0020 a0002c0001t0001g0049 a0002c0001t0001g0067 a0002c0001t0001g0077 a0002c0001t0001g0133	6	38	0.1579	22	c.-44 others(43): Show c.-445+30793_-445+30794insTCTTTCTTCTTTCTTTCTTCTT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL4_chrX_112078016_112462514	112190176	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01358.hp1 HG01884.hp2 others(4): Show HG00140.hp1 HG01358.hp1 HG01884.hp2 HG02135.hp1 HG02257.hp2 NA18965.hp2 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0001c0002t0004 a0002c0001t0001 a0001c0002t0002 a0001c0002t0004 a0002c0001t0001	a0001c0002t0002g0064 a0001c0002t0002g0071 a0001c0002t0002g0099 others(4): Show a0001c0002t0002g0064 a0001c0002t0002g0071 a0001c0002t0002g0099 a0001c0002t0002g0109 a0001c0002t0004g0031 a0002c0001t0001g0024 a0002c0001t0001g0105	7	120	0.0583	22	c.-44 others(43): Show c.-445+59077_-445+59098dupTTCTTTCTTTCTTTCTTTCTTT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL4_chrX_112078016_112462514	112190180	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0124 a0001c0002t0002g0124	1	132	0.0076	22	c.-44 others(43): Show c.-445+59081_-445+59102dupTTCTTTCTTTCTTTCTTTCTTT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL4_chrX_112078016_112462514	112304449	T T	TACCGATT others(15): Show TACCGATTTAAAATTTTTTAAAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0091 a0002c0001t0006g0091	1	132	0.0076	22	c.-44 others(41): Show c.-444-1911_-444-1890dupACCGATTTAAAATTTTTTAAAG	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL4_chrX_112078016_112462514	112309825	T T	TATATATA others(15): Show TATATATACATATATGTATACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02145.hp1 others(4): Show HG01884.hp2 HG02055.hp1 HG02145.hp1 HG02451.hp1 HG02630.hp2 HG02965.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0002 a0001c0003t0015 a0002c0001t0001 a0001c0002t0002 a0001c0003t0015 a0002c0001t0001	a0001c0002t0002g0011 a0001c0002t0002g0027 a0001c0002t0002g0033 others(4): Show a0001c0002t0002g0011 a0001c0002t0002g0027 a0001c0002t0002g0033 a0001c0002t0002g0109 a0001c0002t0002g0118 a0001c0003t0015g0125 a0002c0001t0001g0026	7	132	0.0530	22	c.-28 others(41): Show c.-285+3315_-285+3336dupTATATGTATACACATATATACA	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTN1_chr14_59590983_59875776	59606125	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	137	0.0073	22	c.197 others(39): Show c.1974-620_1974-619insTTATATATATATATATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	4/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59750637	T T	TATATATT others(15): Show TATATATTATATCTATAAATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02280.hp2 others(1): Show HG02055.hp1 HG02145.hp2 HG02280.hp2 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0047 a0003c0004t0001g0018 a0003c0004t0001g0080 others(1): Show a0001c0001t0001g0047 a0003c0004t0001g0018 a0003c0004t0001g0080 a0003c0004t0001g0081	4	162	0.0247	22	c.242 others(39): Show c.242-4157_242-4156insTATATTTATAGATATAATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN3_chr11_63676500_63764882	63685495	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03927.hp1 HG03688.hp1 HG03927.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0008 a0003c0003t0001g0009	2	9	0.2222	22	c.142 others(39): Show c.142+3731_142+3732insAAAAAAAAAAAAAAAAAAAAAA	RTN3	ENSG00000133318.14	transcript	ENST00000377819.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RTN3_chr11_63676500_63764882	63735550	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02735.hp1 NA18906.hp2 HG02630.hp2 HG02735.hp1 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0069 a0001c0001t0001g0157 a0004c0004t0001g0168 a0001c0001t0001g0069 a0001c0001t0001g0157 a0004c0004t0001g0168	3	27	0.1111	22	c.253 others(43): Show c.2531-14411_2531-14390dupCTCTCTCTCTCTCTCTCTCTCT	RTN3	ENSG00000133318.14	transcript	ENST00000377819.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RTN3_chr11_63676500_63764882	63735567	T T	TCTCTCTC others(15): Show TCTCTCTCTCTCTCTCTCTCTCA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	168	0.0060	22	c.253 others(43): Show c.2531-14403_2531-14402insACTCTCTCTCTCTCTCTCTCTC	RTN3	ENSG00000133318.14	transcript	ENST00000377819.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RTN4RL1_chr17_1929677_2030334	1963975	C C	CCTCGGCC others(15): Show CCTCGGCCTCCCAAAGTGCTGGA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0317 a0001c0001t0008g0317	1	382	0.0026	22	c.14- others(39): Show c.14-26189_14-26168dupTCCAGCACTTTGGGAGGCCGAG	RTN4RL1	ENSG00000185924.7	transcript	ENST00000331238.7	protein_coding	1/1			chr17	TogoVar
RTN4_chr2_54967189_55055451	55022896	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01167.hp2 HG01168.hp2 others(22): Show HG00642.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG02080.hp1 HG02523.hp1 HG03017.hp2 HG03239.hp1 NA18947.hp2 NA18948.hp1 NA18956.hp2 NA18960.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18991.hp2 NA18992.hp1 NA18995.hp1 NA18998.hp1 NA19003.hp1 NA19006.hp2 NA19009.hp2 NA19081.hp2 NA19082.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0010	a0001c0001t0001g0225 a0001c0001t0001g0237 a0001c0001t0001g0238 others(22): Show a0001c0001t0001g0225 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0002g0070 a0001c0001t0002g0242 a0002c0002t0001g0056 a0002c0002t0003g0019 a0002c0002t0003g0021 a0002c0002t0003g0028 a0002c0002t0003g0029 a0002c0002t0003g0035 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0057 a0002c0002t0003g0061 a0002c0002t0010g0018 a0002c0002t0010g0034	25	168	0.1488	22	c.301 others(41): Show c.3013+2168_3013+2189dupGTGTGTGTGTGTGTGTGTGTGT	RTN4	ENSG00000115310.19	transcript	ENST00000337526.11	protein_coding	3/8			chr2	TogoVar
RUBCNL_chr13_46329681_46392252	46362923	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA19072.hp1 HG01175.hp2 NA19072.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0001 a0002c0002t0005	a0002c0002t0001g0106 a0002c0002t0005g0150 a0002c0002t0001g0106 a0002c0002t0005g0150	2	120	0.0167	22	c.925 others(37): Show c.925+191_925+192insATATATATATATATATATATAT	RUBCNL	ENSG00000102445.20	transcript	ENST00000429979.6	protein_coding	6/14			chr13	TogoVar
RUFY1_chr5_179545554_179615012	179579657	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02080.hp2 HG02896.hp1 others(4): Show HG02027.hp1 HG02080.hp2 HG02896.hp1 HG02976.hp2 HG03139.hp2 HG03209.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0007t0001 a0001c0001t0001 a0001c0001t0004 a0001c0007t0001	a0001c0001t0001g0084 a0001c0001t0001g0136 a0001c0001t0004g0029 others(4): Show a0001c0001t0001g0084 a0001c0001t0001g0136 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0007t0001g0142	7	54	0.1296	22	c.891 others(39): Show c.891-1289_891-1268dupTTTTTTTTTTTTTTTTTTTTTT	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RUFY1_chr5_179545554_179615012	179580241	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0250 a0001c0005t0002g0250	1	165	0.0061	22	c.891 others(37): Show c.891-705_891-704insGTGTGTGTGTGTATATATATAT	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RUFY1_chr5_179545554_179615012	179580241	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0244 a0001c0003t0002g0244	1	165	0.0061	22	c.891 others(37): Show c.891-705_891-704insGTGTGTGTGTGTGTATATATAT	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RUFY2_chr10_68338408_68412277	68366759	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01074.hp1 HG01993.hp1 others(13): Show HG00280.hp2 HG01074.hp1 HG01993.hp1 HG02293.hp2 HG02683.hp1 HG02735.hp2 HG03831.hp1 HG03927.hp2 NA18942.hp1 NA18948.hp1 NA18956.hp2 NA18999.hp2 NA19003.hp2 NA19005.hp1 NA19060.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0038 a0001c0002t0042 a0001c0002t0002 a0001c0002t0038 a0001c0002t0042	a0001c0002t0002g0205 a0001c0002t0002g0207 a0001c0002t0002g0212 others(13): Show a0001c0002t0002g0205 a0001c0002t0002g0207 a0001c0002t0002g0212 a0001c0002t0002g0214 a0001c0002t0002g0220 a0001c0002t0002g0231 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0241 a0001c0002t0002g0246 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0038g0050 a0001c0002t0042g0240	16	234	0.0684	22	c.132 others(41): Show c.1326-2647_1326-2646insTTATATATATATATATATATAT	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding	13/17			chr10	TogoVar
RUFY2_chr10_68338408_68412277	68376489	T T	TATATATA others(15): Show TATATATATACATATATATATTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0133 a0001c0001t0013g0133	1	121	0.0083	22	c.132 others(39): Show c.1325+363_1325+364insGAATATATATATGTATATATAT	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding	13/17			chr10	TogoVar
RUFY2_chr10_68338408_68412277	68376489	T T	TATATATA others(15): Show TATATATATATATATATATATTC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	121	0.0083	22	c.132 others(39): Show c.1325+363_1325+364insGAATATATATATATATATATAT	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding	13/17			chr10	TogoVar
RUFY3_chr4_70716964_70813619	70774644	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0243 a0001c0001t0008g0243	1	115	0.0087	22	c.759 others(37): Show c.759-523_759-522insAAAAAAAAAAAATATATATATA	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RUNDC3B_chr7_87623398_87837296	87626091	T T	TATATATC others(15): Show TATATATCTCATATATATGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 NA19043.hp2 HG02630.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0057 a0001c0001t0055 a0001c0001t0057	a0001c0001t0055g0020 a0001c0001t0057g0017 a0001c0001t0055g0020 a0001c0001t0057g0017	2	144	0.0139	22	c.-27 others(33): Show c.-2733_-2732insATATATCTCATATATATGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2306		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626361	T T	TATATGTG others(15): Show TATATGTGTCATATATATCTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	194	0.0052	22	c.-24 others(33): Show c.-2463_-2462insATATGTGTCATATATATCTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2036		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626361	T T	TATATGTG others(15): Show TATATGTGTCATATATATGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	194	0.0052	22	c.-24 others(33): Show c.-2463_-2462insATATGTGTCATATATATGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2036		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626413	T T	TATATGTG others(15): Show TATATGTGTCATATATATGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	179	0.0056	22	c.-24 others(33): Show c.-2411_-2410insATATGTGTCATATATATGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1984		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626426	T T	TATATGTG others(15): Show TATATGTGTCATATATATGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02818.hp2 HG02630.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0031 a0001c0001t0008 a0001c0001t0031	a0001c0001t0008g0131 a0001c0001t0031g0107 a0001c0001t0008g0131 a0001c0001t0031g0107	2	198	0.0101	22	c.-23 others(33): Show c.-2398_-2397insATATGTGTCATATATATGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1971		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626724	G G	GTCATATA others(15): Show GTCATATATATGTGTCATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0009 a0001c0001t0072g0009	1	194	0.0052	22	c.-21 others(33): Show c.-2100_-2099insTCATATATATGTGTCATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1673		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626737	G G	GTCATATA others(15): Show GTCATATATATGTGTCATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 NA19083.hp1 HG03209.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0035 a0001c0001t0018 a0001c0001t0035	a0001c0001t0018g0171 a0001c0001t0035g0034 a0001c0001t0018g0171 a0001c0001t0035g0034	2	194	0.0103	22	c.-20 others(33): Show c.-2087_-2086insTCATATATATGTGTCATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1660		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87652621	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01496.hp1 HG01978.hp2 others(6): Show HG01358.hp1 HG01496.hp1 HG01978.hp2 HG02717.hp2 HG02895.hp2 HG03453.hp1 NA18522.hp2 NA18940.hp1 NA18973.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0013 a0001c0001t0041 others(3): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0041 a0001c0001t0049 a0001c0001t0056 a0002c0002t0002	a0001c0001t0002g0030 a0001c0001t0002g0162 a0001c0001t0002g0164 others(6): Show a0001c0001t0002g0030 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0200 a0001c0001t0013g0001 a0001c0001t0041g0001 a0001c0001t0049g0038 a0001c0001t0056g0016 a0002c0002t0002g0029	9	94	0.0957	22	c.238 others(39): Show c.238+1688_238+1709dupTATATATATATATATATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNX1T1_chr8_91949972_92108385	92005985	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02717.hp1 NA21309.hp2 HG01070.hp1 HG02717.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0033 a0001c0001t0064 a0001c0005t0068 a0001c0001t0033 a0001c0001t0064 a0001c0005t0068	a0001c0001t0033g0003 a0001c0001t0064g0126 a0001c0005t0068g0131 a0001c0001t0033g0003 a0001c0001t0064g0126 a0001c0005t0068g0131	3	69	0.0435	22	c.559 others(37): Show c.559-710_559-689dupGTGTGTGTGTGTGTGTGTGTGT	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	5/11			chr8	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(15): Show ATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0025 a0001c0001t0010g0025	1	57	0.0175	22	c.88+ others(39): Show c.88+15411_88+15412insCACACACACATATATATATATA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(15): Show ATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0022 a0001c0001t0040g0022	1	57	0.0175	22	c.88+ others(39): Show c.88+15411_88+15412insCACACACACACACATATATATA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1_chr21_34782801_35054302	34909588	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	104	0.0096	22	c.59- others(39): Show c.59-16626_59-16625insTTTTTTTTTTTTTTTTTTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34930270	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	106	0.0094	22	c.59- others(39): Show c.59-37308_59-37307insTATATATATATATATATATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34930270	G G	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp2 HG02818.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0003 a0001c0001t0004 a0001c0002t0003	a0001c0001t0004g0139 a0001c0002t0003g0108 a0001c0001t0004g0139 a0001c0002t0003g0108	2	107	0.0187	22	c.59- others(39): Show c.59-37308_59-37307insTATATATATATATATATACACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34930270	G G	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02922.hp1 HG03471.hp2 HG02723.hp2 HG02922.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0001t0001 a0001c0001t0004 a0001c0003t0001	a0001c0001t0001g0113 a0001c0001t0004g0126 a0001c0003t0001g0162 a0001c0001t0001g0113 a0001c0001t0004g0126 a0001c0003t0001g0162	3	108	0.0278	22	c.59- others(39): Show c.59-37308_59-37307insTATATATATATATATACACACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34967319	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02109.hp2 HG04115.hp1 others(2): Show HG01496.hp1 HG02109.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0002t0006	a0001c0001t0001g0099 a0001c0001t0002g0032 a0001c0001t0002g0083 others(2): Show a0001c0001t0001g0099 a0001c0001t0002g0032 a0001c0001t0002g0083 a0001c0002t0003g0131 a0001c0002t0006g0114	5	18	0.2778	22	c.59- others(39): Show c.59-74378_59-74357dupTTTTTTTTTTTTTTTTTTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34982397	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0111 a0001c0002t0006g0111	1	21	0.0476	22	c.58+ others(39): Show c.58+66444_58+66445insACACACACACACACACACACAC	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	35047549	A A	ACTCTCTC others(15): Show ACTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	134	0.0075	22	c.58+ others(37): Show c.58+1292_58+1293insAGAGAGAGAGAGAGAGAGAGAG	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX2_chr6_45323330_45556082	45485693	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA19091.hp2 HG00323.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0129 a0001c0001t0003g0150 a0001c0001t0003g0129 a0001c0001t0003g0150	2	147	0.0136	22	c.686 others(39): Show c.686-6247_686-6246insATATATATATATATATATATAT	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
RUNX2_chr6_45323330_45556082	45485695	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01496.hp1 HG02809.hp2 others(4): Show HG01346.hp1 HG01496.hp1 HG02809.hp2 HG02886.hp2 NA19063.hp2 NA19066.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0117 a0001c0001t0001g0134 a0001c0001t0002g0120 others(4): Show a0001c0001t0001g0117 a0001c0001t0001g0134 a0001c0001t0002g0120 a0001c0001t0003g0030 a0001c0001t0003g0083 a0001c0001t0003g0130 a0001c0002t0001g0099	7	119	0.0588	22	c.686 others(39): Show c.686-6245_686-6244insATATATATATATATATATATAT	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
RUNX2_chr6_45323330_45556082	45485697	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18965.hp2 HG00438.hp1 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0128 a0001c0001t0001g0107 a0001c0001t0001g0128	2	70	0.0286	22	c.686 others(39): Show c.686-6224_686-6223insTATATATATATATATATATATA	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
RUNX2_chr6_45323330_45556082	45485697	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02976.hp1 NA18964.hp1 others(1): Show HG02717.hp2 HG02976.hp1 NA18964.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009	a0001c0001t0002g0032 a0001c0001t0003g0141 a0001c0001t0009g0152 others(1): Show a0001c0001t0002g0032 a0001c0001t0003g0141 a0001c0001t0009g0152 a0001c0001t0009g0168	4	72	0.0556	22	c.686 others(39): Show c.686-6243_686-6242insGTATATATATATATATATATAT	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
RWDD4_chr4_183634635_183664185	183638494	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0234 a0001c0003t0002g0234	1	217	0.0046	22	c.29 others(33): Show c.2941_*2942insTTTTTTTTTTTTTTTTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding		1140		chr4	TogoVar
RXFP1_chr4_158516882_158658372	158527564	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03516.hp2 NA19043.hp2 others(1): Show HG02615.hp1 HG03516.hp2 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 others(1): Show a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0199	4	19	0.2105	22	c.49+ others(37): Show c.49+5540_49+5541insAAAATATATATATATATATATA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158527564	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	16	0.0625	22	c.49+ others(37): Show c.49+5553_49+5554insATATATATATATATATATATAT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158541350	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02896.hp2 others(1): Show HG02055.hp1 HG02145.hp1 HG02896.hp2 HG02897.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0166 a0001c0001t0001g0167 a0003c0003t0001g0005 others(1): Show a0001c0001t0001g0166 a0001c0001t0001g0167 a0003c0003t0001g0005 a0003c0003t0001g0006	4	7	0.5714	22	c.49+ others(39): Show c.49+19336_49+19357dupCACACACACACACACACACACA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542079	C C	CCATATAT others(15): Show CCATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	167	0.0060	22	c.49+ others(39): Show c.49+20054_49+20055insCATATATATATATATATATATA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	25	0.0400	22	c.49+ others(39): Show c.49+20085_49+20086insATATATATATATATATATATTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA19087.hp1 HG02647.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0159 a0001c0001t0001g0067 a0001c0001t0001g0159	2	26	0.0769	22	c.49+ others(39): Show c.49+20085_49+20086insATATATATATATATATATTTTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02559.hp1 HG02809.hp2 others(2): Show HG01071.hp1 HG02559.hp1 HG02809.hp2 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0133 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0133 a0001c0001t0001g0150 a0001c0001t0001g0153	5	29	0.1724	22	c.49+ others(39): Show c.49+20085_49+20086insATATATATATATATATTTTTTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar

Search by Variant

Search

Search Results