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
SOX6_chr11_15961449_16361546	16349674	G G	GAGGGAGG others(21): Show GAGGGAGGGAGGGAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0213 a0001c0002t0003g0213	1	123	0.0081	28	c.-5+ others(43): Show c.-5+6419_-5+6420insTCCTTCCTTCCTTCCTCCCTCCCTCCCT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349674	G G	GAGGGAGG others(21): Show GAGGGAGGGAGGGAGGGAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18994.hp1 NA19009.hp2 NA18980.hp2 NA18994.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0168 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0001g0168 a0001c0001t0002g0079 a0001c0001t0002g0080	3	125	0.0240	28	c.-5+ others(43): Show c.-5+6419_-5+6420insTCCTTCCTTCCTCCCTCCCTCCCTCCCT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349715	A A	AGGAAGGA others(21): Show AGGAAGGAAGGAAGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18992.hp1 NA18974.hp2 NA18992.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0144 a0001c0002t0001g0139 a0001c0002t0001g0144	2	119	0.0168	28	c.-5+ others(43): Show c.-5+6378_-5+6379insCTTCCTTCCTTCCTTCTTCCTTCCTTCC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349715	A A	AGGAAGGA others(21): Show AGGAAGGAAGGAAGGAAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02615.hp2 HG03130.hp2 others(1): Show HG01496.hp1 HG02615.hp2 HG03130.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0002t0001g0057 others(1): Show a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0002t0001g0057 a0001c0002t0003g0058	4	121	0.0331	28	c.-5+ others(43): Show c.-5+6378_-5+6379insCTTCCTTCCTTCTTCCTTCCTTCCTTCC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349715	A A	AGGAAGGA others(21): Show AGGAAGGAAGGAAGGAAGGAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG04228.hp2 NA18995.hp1 HG03453.hp1 HG04228.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0034 a0001c0001t0002 a0001c0002t0001 a0001c0002t0034	a0001c0001t0002g0053 a0001c0002t0001g0145 a0001c0002t0034g0059 a0001c0001t0002g0053 a0001c0002t0001g0145 a0001c0002t0034g0059	3	120	0.0250	28	c.-5+ others(43): Show c.-5+6378_-5+6379insCTTCCTTCTTCCTTCCTTCCTTCCTTCC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SP140_chr2_230220736_230318215	230259771	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01081.hp2 others(4): Show HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01346.hp2 HG03195.hp2 HG03704.hp2 HG03831.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0003c0005 others(1): Show a0001c0001 a0003c0004 a0003c0005 a0004c0003	a0001c0001t0001 a0003c0004t0003 a0003c0005t0003 others(1): Show a0001c0001t0001 a0003c0004t0003 a0003c0005t0003 a0004c0003t0001	a0001c0001t0001g0277 a0001c0001t0001g0287 a0003c0004t0003g0040 others(4): Show a0001c0001t0001g0277 a0001c0001t0001g0287 a0003c0004t0003g0040 a0003c0005t0003g0187 a0003c0005t0003g0188 a0003c0005t0003g0203 a0004c0003t0001g0264	7	174	0.0402	28	c.124 others(47): Show c.1240+4264_1240+4265insTATATATATATATATATATATATATA TA	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	12/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140_chr2_230220736_230318215	230307990	T T	TATATATA others(21): Show TATATATATATATATATATATACATACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0032 a0003c0004t0003g0032	1	267	0.0037	28	c.205 others(47): Show c.2059-1933_2059-1932insTATATATATATATATATATACATACA CA	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140_chr2_230220736_230318215	230307990	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03704.hp2 HG03831.hp1 HG02738.hp2 HG03704.hp2 HG03831.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0003c0005 a0001c0001 a0003c0004 a0003c0005	a0001c0001t0001 a0003c0004t0003 a0003c0005t0003 a0001c0001t0001 a0003c0004t0003 a0003c0005t0003	a0001c0001t0001g0277 a0003c0004t0003g0043 a0003c0005t0003g0203 a0001c0001t0001g0277 a0003c0004t0003g0043 a0003c0005t0003g0203	3	269	0.0112	28	c.205 others(47): Show c.2059-1933_2059-1932insTATATATATATATATATATATATATA CA	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP3_chr2_173895775_173970373	173933638	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0307 a0001c0001t0015g0307	1	88	0.0114	28	c.164 others(49): Show c.1640-14881_1640-14854dupTATATATATATATATATATATATA TATA	SP3	ENSG00000172845.18	transcript	ENST00000310015.12	protein_coding	4/6			chr2	TogoVar
SP3_chr2_173895775_173970373	173939764	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA18985.hp2 HG01515.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0103 a0001c0001t0007g0085 a0001c0001t0006g0103 a0001c0001t0007g0085	2	19	0.1053	28	c.163 others(49): Show c.1639+15108_1639+15109insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SP3	ENSG00000172845.18	transcript	ENST00000310015.12	protein_coding	4/6			chr2	TogoVar
SPACA4_chr19_48601742_48612714	48602704	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	190	0.0053	28	c.-42 others(39): Show c.-4275_-4274insAAAAAAAAAAAAAAAAATATATATATAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4037		chr19	TogoVar
SPACA4_chr19_48601742_48612714	48602704	A A	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	190	0.0053	28	c.-42 others(39): Show c.-4275_-4274insAAAAAAAAAAATATATATATATATATAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4037		chr19	TogoVar
SPACA5_chrX_48001988_48014733	48013031	G G	GCTTGCTT others(21): Show GCTTGCTTGCTTGCTTGCTTCCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	276	0.0072	28	c.33 others(39): Show c.3386_*3387insCTTGCTTGCTTGCTTGCTTCCTTTCTTT	SPACA5	ENSG00000171489.11	transcript	ENST00000376940.4	protein_coding		3299		chrX	TogoVar
SPACDR_chr7_100451620_100469260	100457803	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	33	0.0303	28	c.388 others(43): Show c.388-846_388-819dupCACACACACACACACACACACACACACA	SPACDR	ENSG00000185955.5	transcript	ENST00000332375.4	protein_coding	2/2			chr7	TogoVar
SPAG11B_chr8_7445603_7468542	7448302	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	6	0.1667	28	c.23 others(39): Show c.2383_*2410dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPAG11B	ENSG00000164871.18	transcript	ENST00000398462.7	protein_coding		2300		chr8	TogoVar
SPAG16_chr2_213279464_214415501	213833456	A A	ATATATAT others(21): Show ATATATATTATATATAATAATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 NA19090.hp2 HG01516.hp1 NA19090.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0034 a0003c0003t0001g0040 a0003c0003t0001g0034 a0003c0003t0001g0040	2	45	0.0444	28	c.107 others(49): Show c.1071-29022_1071-29021insTATATATAATAATATATATATTAT ATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213859178	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0053	1	39	0.0256	28	c.107 others(47): Show c.1071-3296_1071-3269dupAAAAAAAAAAAAAAAAAAAAAAAAAA AA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213869265	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAATATATATATATACG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	61	0.0164	28	c.121 others(47): Show c.1214+6637_1214+6638insAAAAAAAAAAAAAATATATATATATA CG	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	213869265	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01256.hp2 HG01361.hp2 others(1): Show HG00735.hp2 HG01256.hp2 HG01361.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0065 a0001c0001t0001g0068 others(1): Show a0001c0001t0001g0027 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069	4	64	0.0625	28	c.121 others(47): Show c.1214+6637_1214+6638insAAAAAAAAAAAATATATATATATATA CG	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	213869265	A A	AAAAAAAA others(21): Show AAAAAAAAAAATATATATATATATATACG	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	61	0.0164	28	c.121 others(47): Show c.1214+6637_1214+6638insAAAAAAAAAATATATATATATATATA CG	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	213869265	A A	ATATATAT others(21): Show ATATATATATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	61	0.0164	28	c.121 others(47): Show c.1214+6652_1214+6679dupTGTATATATATATGTATATATATATA TA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213976135	T T	TATATATA others(21): Show TATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	42	0.0238	28	c.140 others(49): Show c.1401-37815_1401-37814insTATATATATATATATATACACACA CACA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214170179	T T	TACACTTA others(21): Show TACACTTAGGTGTGTATACATATACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02559.hp1 others(13): Show HG01891.hp1 HG02109.hp1 HG02559.hp1 HG02615.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03579.hp1 NA18993.hp1 NA18993.hp2 NA19030.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0010	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0006 a0010c0011	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0003 a0004c0004t0001 a0006c0006t0001 a0010c0011t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(13): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0072 a0002c0002t0001g0011 a0002c0002t0001g0063 a0002c0002t0001g0075 a0002c0002t0002g0052 a0003c0003t0001g0029 a0003c0003t0003g0019 a0004c0004t0001g0020 a0006c0006t0001g0082 a0010c0011t0001g0086	16	79	0.2025	28	c.172 others(49): Show c.1720+20932_1720+20959dupATATACACACACACTTAGGTGTGT ATAC	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214195303	T T	TGATAGAT others(21): Show TGATAGATAGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0051	1	31	0.0323	28	c.172 others(49): Show c.1720+46042_1720+46069dupGATAGATAGATAGATAGATAGATA GATA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214258471	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0076 a0002c0002t0001g0076	1	38	0.0263	28	c.172 others(51): Show c.1720+109206_1720+109207insGTGTGTGTGTATATATATATAT ATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214352558	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03209.hp1 HG03579.hp2 HG03195.hp1 HG03209.hp1 HG03579.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0003 a0005c0005 a0002c0002 a0003c0003 a0005c0005	a0002c0002t0002 a0003c0003t0001 a0005c0005t0001 a0002c0002t0002 a0003c0003t0001 a0005c0005t0001	a0002c0002t0002g0073 a0003c0003t0001g0043 a0005c0005t0001g0017 a0002c0002t0002g0073 a0003c0003t0001g0043 a0005c0005t0001g0017	3	28	0.1071	28	c.172 others(49): Show c.1721-57565_1721-57564insGTGTGTGTGTGTGTGTGTGTGTGT GTGT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214352580	G G	GTGTGTGT others(21): Show GTGTGTGTGAGTGTGTGTGTATGTGTGAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02976.hp2 HG03225.hp1 others(1): Show HG02717.hp1 HG02976.hp2 HG03225.hp1 HG06807.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0010c0011	a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0010c0011t0001	a0001c0001t0002g0072 a0002c0002t0001g0051 a0003c0003t0001g0080 others(1): Show a0001c0001t0002g0072 a0002c0002t0001g0051 a0003c0003t0001g0080 a0010c0011t0001g0086	4	86	0.0465	28	c.172 others(49): Show c.1721-57558_1721-57557insTGTGTGAGTGTGTGTGTATGTGTG ACTG	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG17_chr1_117948590_118190228	118089354	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0021 a0021	a0021c0023 a0021c0023	a0021c0023t0001 a0021c0023t0001	a0021c0023t0001g0068 a0021c0023t0001g0068	1	207	0.0048	28	c.135 others(47): Show c.1359+2251_1359+2252insTCACACACACACACACACACACACAC AC	SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	10/48			chr1	TogoVar
SPAG1_chr8_100153587_100246904	100168687	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19070.hp1 HG02145.hp1 NA19070.hp1	a0003 a0009 a0003 a0009	a0003c0006 a0009c0020 a0003c0006 a0009c0020	a0003c0006t0001 a0009c0020t0001 a0003c0006t0001 a0009c0020t0001	a0003c0006t0001g0063 a0009c0020t0001g0248 a0003c0006t0001g0063 a0009c0020t0001g0248	2	113	0.0177	28	c.300 others(45): Show c.300+2725_300+2726insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG4_chr20_35610829_35626094	35615416	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	317	0.0032	28	c.-58 others(37): Show c.-588_-587insAAAGAAAGAAAGAAAGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		412		chr20	TogoVar
SPAG4_chr20_35610829_35626094	35615420	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	313	0.0032	28	c.-58 others(37): Show c.-584_-583insAAAGAAAGAAAGAAAGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		408		chr20	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 NA18964.hp1 NA19090.hp1 HG01496.hp2 NA18964.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	3	117	0.0256	28	c.-58 others(37): Show c.-580_-579insAAAGAAAGAAAGAAAGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02896.hp1 HG02895.hp1 HG02896.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0105 a0005c0004t0001g0109 a0005c0004t0001g0105 a0005c0004t0001g0109	2	137	0.0146	28	c.-18 others(39): Show c.-1805_-1804insATATATATATATATTTTTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	136	0.0074	28	c.-18 others(39): Show c.-1805_-1804insATATATATATATATATATTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	136	0.0074	28	c.-18 others(39): Show c.-1805_-1804insATATATATATATATATATATATTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG9_chr17_50957174_51125868	51077041	T T	TCTAGCTA others(21): Show TCTAGCTATCTAGCTAGCTAGCTATCTAG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	278	0.0036	28	c.424 others(45): Show c.424+2542_424+2543insCTAGATAGCTAGCTAGCTAGATAGCTAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51077093	T T	TCTAGCTA others(21): Show TCTAGCTAGCTAGCTAGCTATCTAGCTAG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	242	0.0041	28	c.424 others(45): Show c.424+2490_424+2491insCTAGCTAGATAGCTAGCTAGCTAGCTAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51077093	T T	TCTAGCTA others(21): Show TCTAGCTAGCTATCTAGCTAGCTAGCTAG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02165.hp2 NA18971.hp1 HG02135.hp2 HG02165.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0031 a0001c0001t0003g0050 a0001c0001t0009g0027 a0001c0001t0003g0031 a0001c0001t0003g0050 a0001c0001t0009g0027	3	244	0.0123	28	c.424 others(45): Show c.424+2490_424+2491insCTAGCTAGCTAGCTAGATAGCTAGCTAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51077093	T T	TCTAGCTA others(21): Show TCTAGCTAGCTATCTAGCTATCTAGCTAG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02132.hp1 HG04228.hp2 others(5): Show HG02083.hp2 HG02132.hp1 HG04228.hp2 NA18944.hp1 NA18948.hp1 NA18974.hp2 NA18979.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0001 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0035 a0001c0001t0003g0018 a0001c0001t0003g0026 others(5): Show a0001c0001t0001g0035 a0001c0001t0003g0018 a0001c0001t0003g0026 a0001c0001t0003g0036 a0001c0001t0003g0045 a0001c0001t0003g0048 a0001c0001t0003g0201 a0001c0001t0012g0032	8	249	0.0321	28	c.424 others(45): Show c.424+2490_424+2491insCTAGCTAGATAGCTAGATAGCTAGCTAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51095960	T T	TATATATA others(21): Show TATATATATAGTGATATATATATATAGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0292 a0002c0003t0008g0292	1	253	0.0040	28	c.304 others(47): Show c.304-16257_304-16256insCACTATATATATATATCACTATATAT AT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	1/29			chr17	TogoVar
SPAST_chr2_32058556_32162637	32110761	A A	ATATAGTA others(21): Show ATATAGTATACATAGTATACTATATATAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00741.hp1 HG01109.hp2 others(3): Show HG00597.hp2 HG00741.hp1 HG01109.hp2 HG01515.hp2 HG03579.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0120 others(3): Show a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0162 a0001c0001t0004g0195	6	336	0.0179	28	c.683 others(45): Show c.683-3851_683-3824dupTAGTATAGTATACATAGTATACTATATA	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24189763	A A	AATATATT others(21): Show AATATATTATATATAAAAGCATATATAAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03486.hp2 HG02257.hp2 HG03486.hp2	a0001 a0005 a0001 a0005	a0001c0030 a0005c0010 a0001c0030 a0005c0010	a0001c0030t0043 a0005c0010t0038 a0001c0030t0043 a0005c0010t0038	a0001c0030t0043g0155 a0005c0010t0038g0069 a0001c0030t0043g0155 a0005c0010t0038g0069	2	354	0.0056	28	c.-11 others(49): Show c.-112+28841_-112+28842insTATAAAAGCATATATAATATATAT TATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190169	T T	TCATATAA others(21): Show TCATATAACATATAATGATATATAATATA	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA18999.hp2 HG01943.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0031 a0001c0001t0006 a0001c0002t0031	a0001c0001t0006g0298 a0001c0002t0031g0281 a0001c0001t0006g0298 a0001c0002t0031g0281	2	317	0.0063	28	c.-11 others(49): Show c.-112+29237_-112+29238insCATATAACATATAATGATATATAA TATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12			chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190177	T T	TAACATAT others(21): Show TAACATATCATGTATAATATATATTATTA	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0260 a0001c0003t0028g0260	1	354	0.0028	28	c.-11 others(49): Show c.-112+29255_-112+29256insGTATAATATATATTATTAAACATA TCAT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24309283	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01123.hp2 HG01243.hp1 others(13): Show HG00140.hp1 HG01123.hp2 HG01243.hp1 HG01358.hp1 HG01496.hp2 HG02083.hp1 HG02145.hp2 HG02572.hp2 HG02976.hp1 HG03453.hp2 HG04115.hp1 NA18947.hp2 NA19007.hp2 NA19011.hp1 NA19085.hp1 NA19085.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0010	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0002c0008 a0006c0016 a0010c0033	a0001c0001t0004 a0001c0001t0025 a0001c0002t0001 others(12): Show a0001c0001t0004 a0001c0001t0025 a0001c0002t0001 a0001c0002t0010 a0001c0002t0053 a0001c0002t0084 a0001c0002t0115 a0001c0003t0027 a0001c0003t0097 a0001c0006t0076 a0001c0006t0124 a0001c0009t0001 a0002c0008t0102 a0006c0016t0001 a0010c0033t0126	a0001c0001t0004g0205 a0001c0001t0025g0169 a0001c0002t0001g0049 others(13): Show a0001c0001t0004g0205 a0001c0001t0025g0169 a0001c0002t0001g0049 a0001c0002t0001g0103 a0001c0002t0010g0275 a0001c0002t0053g0013 a0001c0002t0084g0102 a0001c0002t0115g0246 a0001c0003t0027g0261 a0001c0003t0097g0289 a0001c0006t0076g0154 a0001c0006t0124g0034 a0001c0009t0001g0139 a0002c0008t0102g0270 a0006c0016t0001g0065 a0010c0033t0126g0252	16	106	0.1509	28	c.65 others(39): Show c.6510_*6511insTATATATATATATATATATATATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding		2215		chr13	TogoVar
SPATA13_chr13_24155720_24312069	24309305	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0049 a0002c0007t0049	a0002c0007t0049g0351 a0002c0007t0049g0351	1	354	0.0028	28	c.65 others(39): Show c.6532_*6533insTATATATATATATATATATATATATATG	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding		2237		chr13	TogoVar
SPATA16_chr3_172884357_173146235	172961069	T T	TCTTCCTT others(21): Show TCTTCCTTTCTTCCTTTCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0140 a0002c0002t0001g0140	1	100	0.0100	28	c.934 others(45): Show c.934-4246_934-4245insGAAGGAAGGAAGAAAGGAAGAAAGGAAG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	5/10			chr3	TogoVar
SPATA16_chr3_172884357_173146235	173028013	C C	CCCTCCCT others(21): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0162 a0003c0003t0001g0162	1	111	0.0090	28	c.759 others(45): Show c.759-8439_759-8438insAAGGAAGGAAGGGAGGGAGGGAGGGAGG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA16_chr3_172884357_173146235	173028013	C C	CCCTCCCT others(21): Show CCCTCCCTCCCTCCCTCCCTTCCTTCTTT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	111	0.0090	28	c.759 others(45): Show c.759-8439_759-8438insAAAGAAGGAAGGGAGGGAGGGAGGGAGG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA16_chr3_172884357_173146235	173028013	C C	CCCTCCCT others(21): Show CCCTCCCTCCCTCCCTCCCTTCTTTCCTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	111	0.0090	28	c.759 others(45): Show c.759-8439_759-8438insAAGGAAAGAAGGGAGGGAGGGAGGGAGG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar

Search by Variant

Search

Search Results