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
SEMA4D_chr9_89372235_89503113	89450659	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0048 a0007c0012t0048	a0007c0012t0048g0354 a0007c0012t0048g0354	1	118	0.0085	21	c.-24 others(40): Show c.-244+5228_-244+5229insTTTTTTTTTTTTTTTTTTTTT	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89461700	C C	CTCTCTCT others(14): Show CTCTCTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	126	0.0079	21	c.-30 others(40): Show c.-309-5748_-309-5747insAAAAAAAAAAAAAAAGAGAGA	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA5A_chr5_9030033_9551075	9123258	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0057 a0001c0001t0033g0057	1	10	0.1000	21	c.160 others(38): Show c.1600-442_1600-422dupTTTTTTTTTTTTTTTTTTTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	13/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353098	G G	GAAAGGAA others(14): Show GAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03139.hp1 NA18522.hp1 others(1): Show HG02572.hp1 HG03139.hp1 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0017 a0001c0001 a0001c0015 a0001c0017	a0001c0001t0001 a0001c0001t0008 a0001c0015t0008 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0015t0008 a0001c0017t0074	a0001c0001t0001g0076 a0001c0001t0008g0122 a0001c0015t0008g0112 others(1): Show a0001c0001t0001g0076 a0001c0001t0008g0122 a0001c0015t0008g0112 a0001c0017t0074g0105	4	41	0.0976	21	c.125 others(40): Show c.125-15287_125-15286insTCCTTTCCTTTCCTTTCCTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9408009	T T	TACCATCA others(14): Show TACCATCACCATCACTACCAAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02735.hp1 HG02602.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0019 a0001c0002t0004g0034 a0001c0001t0001g0019 a0001c0002t0004g0034	2	132	0.0152	21	c.-77 others(40): Show c.-77-27987_-77-27986insGTTGGTAGTGATGGTGATGGT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5B_chr3_122904082_123032763	122914930	A A	AAAATTAT others(14): Show AAAATTATGGCTTAGTTATTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02055.hp2 HG02109.hp2 others(21): Show HG00639.hp1 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02572.hp1 HG02622.hp2 HG02717.hp1 HG02895.hp2 HG02922.hp1 HG02976.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19240.hp1 NA20300.hp2	a0001 a0004 a0007 others(2): Show a0001 a0004 a0007 a0008 a0020	a0001c0004 a0001c0005 a0004c0026 others(3): Show a0001c0004 a0001c0005 a0004c0026 a0007c0030 a0008c0011 a0020c0020	a0001c0004t0006 a0001c0004t0009 a0001c0004t0017 others(6): Show a0001c0004t0006 a0001c0004t0009 a0001c0004t0017 a0001c0005t0003 a0001c0005t0024 a0004c0026t0006 a0007c0030t0011 a0008c0011t0003 a0020c0020t0003	a0001c0004t0006g0025 a0001c0004t0006g0048 a0001c0004t0006g0132 others(21): Show a0001c0004t0006g0025 a0001c0004t0006g0048 a0001c0004t0006g0132 a0001c0004t0006g0142 a0001c0004t0006g0175 a0001c0004t0009g0069 a0001c0004t0009g0138 a0001c0004t0009g0144 a0001c0004t0009g0194 a0001c0004t0017g0017 a0001c0005t0003g0026 a0001c0005t0003g0038 a0001c0005t0003g0050 a0001c0005t0003g0171 a0001c0005t0003g0173 a0001c0005t0003g0179 a0001c0005t0003g0195 a0001c0005t0024g0136 a0004c0026t0006g0140 a0007c0030t0011g0145 a0008c0011t0003g0169 a0008c0011t0003g0181 a0008c0011t0003g0283 a0020c0020t0003g0029	24	288	0.0833	21	c.198 others(38): Show c.1988+509_1988+510insAAAATAACTAAGCCATAATTT	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding	14/22			chr3	TogoVar
SEMA5B_chr3_122904082_123032763	122935686	C C	CTTTCTTT others(14): Show CTTTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG01358.hp2 HG00738.hp1 HG01099.hp1 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0206 a0001c0001t0001g0220 a0001c0001t0013g0009 a0001c0001t0001g0206 a0001c0001t0001g0220 a0001c0001t0013g0009	3	17	0.1765	21	c.474 others(38): Show c.474+3738_474+3739insAAAAAAAAAAAAAAAAAGAAA	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding	5/22			chr3	TogoVar
SEMA5B_chr3_122904082_123032763	122935686	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp2 NA18954.hp2 others(3): Show HG02080.hp1 HG02080.hp2 NA18954.hp2 NA18955.hp1 NA18981.hp1 NA18981.hp2	a0002 a0012 a0002 a0012	a0002c0002 a0012c0012 a0002c0002 a0012c0012	a0002c0002t0001 a0002c0002t0002 a0012c0012t0002 a0002c0002t0001 a0002c0002t0002 a0012c0012t0002	a0002c0002t0001g0226 a0002c0002t0001g0262 a0002c0002t0002g0065 others(3): Show a0002c0002t0001g0226 a0002c0002t0001g0262 a0002c0002t0002g0065 a0002c0002t0002g0249 a0012c0012t0002g0126 a0012c0012t0002g0258	6	20	0.3000	21	c.474 others(38): Show c.474+3718_474+3738dupAAAAAAAAAAAAAAAAAAAAA	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding	5/22			chr3	TogoVar
SEMA5B_chr3_122904082_123032763	123006098	G G	GCACTGTC others(14): Show GCACTGTCCACTCATGAAGGGT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0062 a0002c0002t0002g0062	1	288	0.0035	21	c.-39 others(40): Show c.-39+21345_-39+21365dupACCCTTCATGAGTGGACAGTG	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding	1/22			chr3	TogoVar
SEMA6A_chr5_116438555_116579823	116536866	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0069 a0001c0003t0069	a0001c0003t0069g0256 a0001c0003t0069g0256	1	167	0.0060	21	c.-38 others(40): Show c.-38-31905_-38-31885dupTTTTTTTTTTTTTTTTTTTTT	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	1/18			chr5	TogoVar
SENP2_chr3_185581295_185638551	185587570	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02074.hp2 HG02602.hp2 others(8): Show HG01433.hp1 HG02074.hp2 HG02602.hp2 HG03492.hp2 HG03654.hp2 HG03942.hp2 HG06807.hp2 NA18956.hp1 NA18981.hp2 NA18983.hp1 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0009 a0002c0002t0012 others(7): Show a0002c0002t0007 a0002c0002t0009 a0002c0002t0012 a0002c0002t0013 a0002c0002t0057 a0002c0002t0079 a0002c0002t0080 a0002c0002t0087 a0002c0002t0089 a0002c0002t0095	a0002c0002t0007g0284 a0002c0002t0009g0286 a0002c0002t0009g0290 others(8): Show a0002c0002t0007g0284 a0002c0002t0009g0286 a0002c0002t0009g0290 a0002c0002t0012g0293 a0002c0002t0013g0288 a0002c0002t0057g0292 a0002c0002t0079g0291 a0002c0002t0080g0289 a0002c0002t0087g0294 a0002c0002t0089g0287 a0002c0002t0095g0285	11	216	0.0509	21	c.101 others(38): Show c.101+1070_101+1071insTTTTTTTTTTTTTTTTTTTTT	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP2_chr3_185581295_185638551	185623826	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18941.hp2 NA19074.hp1 HG01109.hp1 NA18941.hp2 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0071 a0002c0002t0088 a0002c0002t0025 a0002c0002t0071 a0002c0002t0088	a0002c0002t0025g0303 a0002c0002t0071g0307 a0002c0002t0088g0317 a0002c0002t0025g0303 a0002c0002t0071g0307 a0002c0002t0088g0317	3	149	0.0201	21	c.152 others(38): Show c.1527-168_1527-148dupAAAAAAAAAAAAAAAAAAAAA	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0125 a0001c0002t0006g0125	1	67	0.0149	21	c.188 others(40): Show c.1885-8827_1885-8826insAAAAAAAAATATATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03130.hp2 NA18991.hp2 HG02717.hp2 HG03130.hp2 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0021 a0001c0002t0027 a0001c0002t0008 a0001c0002t0021 a0001c0002t0027	a0001c0002t0008g0282 a0001c0002t0021g0183 a0001c0002t0027g0151 a0001c0002t0008g0282 a0001c0002t0021g0183 a0001c0002t0027g0151	3	69	0.0435	21	c.188 others(40): Show c.1885-8827_1885-8826insAAAAAAATATATATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0287 a0001c0001t0022g0287	1	67	0.0149	21	c.188 others(40): Show c.1885-8827_1885-8826insAAATATATATATATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP6_chr6_75596880_75723281	75705924	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0179 a0001c0004t0003g0179	1	152	0.0066	21	c.271 others(40): Show c.2716+2852_2716+2853insTTTTTTTTTTTTTTTTTTTTT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	19/23			chr6	TogoVar
SEPTIN10_chr2_109537799_109618966	109604383	A A	AAGGGGAG others(14): Show AAGGGGAGGGGAGGGGAGGGGG	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0196 a0001c0001t0004g0196	1	54	0.0185	21	c.30+ others(36): Show c.30+9414_30+9415insCCCCCTCCCCTCCCCTCCCCT	SEPTIN10	ENSG00000186522.15	transcript	ENST00000397712.7	protein_coding	1/10			chr2	TogoVar
SEPTIN14_chr7_55788540_55867752	55830349	A A	ATATATTT others(14): Show ATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0146 a0001c0001t0006g0146	1	147	0.0068	21	c.720 others(38): Show c.720+4075_720+4076insAAAAAAAAAAAAAAAAATATA	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	6/9			chr7	TogoVar
SEPTIN14_chr7_55788540_55867752	55830349	A A	ATATTTTT others(14): Show ATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03225.hp1 HG02109.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0078 a0001c0001t0006g0091 a0001c0001t0006g0078 a0001c0001t0006g0091	2	148	0.0135	21	c.720 others(38): Show c.720+4075_720+4076insAAAAAAAAAAAAAAAAAAATA	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	6/9			chr7	TogoVar
SEPTIN14_chr7_55788540_55867752	55830349	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0006 a0008c0009t0006	a0008c0009t0006g0096 a0008c0009t0006g0096	1	147	0.0068	21	c.720 others(38): Show c.720+4075_720+4076insAAAAAAAAAAAAAAAAAAAAA	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	6/9			chr7	TogoVar
SERAC1_chr6_158104519_158173262	158169529	A A	AGTATATT others(14): Show AGTATATTACATATAATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG03540.hp2 NA19084.hp1 HG01074.hp1 HG03540.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0095 a0001c0001t0001g0150 a0001c0001t0016g0169 a0001c0001t0001g0095 a0001c0001t0001g0150 a0001c0001t0016g0169	3	257	0.0117	21	c.-13 others(32): Show c.-1392_-1391insAATATATTATATGTAATATAC	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1268		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169548	A A	ATTGTATA others(14): Show ATTGTATATTACATATAATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	363	0.0028	21	c.-14 others(32): Show c.-1411_-1410insAATATTATATGTAATATACAA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1287		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169549	C C	CTGTATAT others(14): Show CTGTATATTATATATAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 NA18970.hp1 HG00735.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0039 a0001c0001t0005g0236 a0001c0001t0002g0039 a0001c0001t0005g0236	2	348	0.0057	21	c.-14 others(32): Show c.-1432_-1412dupATATATTATATATAATATACA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1288		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169585	A A	AATATACA others(14): Show AATATACAGTATATTATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0179 a0001c0001t0006g0179	1	357	0.0028	21	c.-14 others(32): Show c.-1448_-1447insCATATATAATATACTGTATAT	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1324		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169686	A A	ATATATAT others(14): Show ATATATATTATATAATGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 NA18949.hp2 NA18983.hp2 others(1): Show HG00621.hp1 NA18949.hp2 NA18983.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0007 a0001c0001t0002g0070 a0001c0001t0002g0071	4	135	0.0296	21	c.-15 others(32): Show c.-1549_-1548insATATACATTATATAATATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1425		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169725	A A	AATATATT others(14): Show AATATATTGTATATTATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	363	0.0028	21	c.-16 others(32): Show c.-1608_-1588dupAATATATAATATACAATATAT	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1464		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169745	T T	TTATATAA others(14): Show TTATATAATATATTGTATATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01074.hp2 HG01515.hp2 others(8): Show HG00323.hp1 HG01074.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG02615.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03927.hp2 HG06807.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0003c0005 others(1): Show a0001c0001 a0001c0002 a0003c0005 a0007c0010	a0001c0001t0001 a0001c0001t0006 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0003 a0003c0005t0006 a0007c0010t0006	a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 others(6): Show a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0006g0179 a0001c0002t0003g0245 a0003c0005t0006g0009 a0007c0010t0006g0187	11	245	0.0449	21	c.-16 others(32): Show c.-1628_-1608dupTAATATACAATATATTATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1484		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169745	T T	TTGTATAT others(14): Show TTGTATATTATATAATATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(61): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp2 HG00673.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01192.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG02015.hp1 HG02040.hp1 HG02083.hp1 HG02523.hp1 HG02602.hp2 HG03209.hp2 HG03654.hp1 HG03688.hp2 HG03927.hp1 NA18939.hp2 NA18940.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18961.hp2 NA18969.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp2 NA18989.hp1 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19002.hp1 NA19007.hp1 NA19012.hp2 NA19057.hp2 NA19058.hp1 NA19064.hp1 NA19066.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19085.hp1 NA20300.hp1 NA20905.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0001 a0001c0001t0013 a0008c0009t0001 a0001c0001t0001 a0001c0001t0013 a0008c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0015 others(54): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0013g0034 a0008c0009t0001g0112	64	298	0.2148	21	c.-16 others(32): Show c.-1608_-1607insCAATATATTATATAATATACA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1484		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169751	A A	AATATATT others(14): Show AATATATTGTATATTATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	272	0.0037	21	c.-16 others(32): Show c.-1614_-1613insAATATATAATATACAATATAT	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1490		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169772	A A	AATATATT others(14): Show AATATATTGTATATTATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA19081.hp2 NA18612.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0069 a0001c0002t0003g0273 a0001c0001t0002g0069 a0001c0002t0003g0273	2	208	0.0096	21	c.-16 others(32): Show c.-1655_-1635dupAATATATAATATACAATATAT	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1511		chr6	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0191 a0001c0001t0082g0191	1	95	0.0105	21	c.92 others(32): Show c.9279_*9280insATATATATATTTTTTTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERGEF_chr11_17783048_18018047	17896623	G G	GGGAAGGG others(14): Show GGGAAGGGGAAGGGAAGGGGAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	74	0.0135	21	c.101 others(42): Show c.1012-18380_1012-18379insTTCCCCTTCCCTTCCCCTTCC	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10			chr11	TogoVar
SERHL2_chr22_42548956_42579382	42559229	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01261.hp2 HG02040.hp1 others(22): Show HG00558.hp1 HG01261.hp2 HG02040.hp1 HG02074.hp2 HG03704.hp2 NA18747.hp1 NA18945.hp1 NA18952.hp2 NA18964.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp2 NA18973.hp1 NA18977.hp2 NA18978.hp2 NA18982.hp1 NA18985.hp2 NA18986.hp2 NA19007.hp1 NA19009.hp1 NA19057.hp1 NA19062.hp2 NA19064.hp2 NA19081.hp2 NA19091.hp2	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0002 a0004c0004 a0005c0005 a0002c0002 a0004c0004 a0005c0005	a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 others(2): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0004c0004t0001 a0005c0005t0006	a0002c0002t0001g0004 a0002c0002t0001g0048 a0002c0002t0001g0207 others(17): Show a0002c0002t0001g0004 a0002c0002t0001g0048 a0002c0002t0001g0207 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0253 a0002c0002t0001g0255 a0002c0002t0001g0257 a0002c0002t0001g0274 a0002c0002t0001g0279 a0002c0002t0001g0303 a0002c0002t0002g0258 a0002c0002t0009g0232 a0002c0002t0009g0256 a0004c0004t0001g0254 a0004c0004t0001g0290 a0005c0005t0006g0219	25	144	0.1736	21	c.533 others(36): Show c.533+779_533+799dupAAAAAAAAAAAAAAAAAAAAA	SERHL2	ENSG00000183569.18	transcript	ENST00000327678.10	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
SERHL2_chr22_42548956_42579382	42567721	T T	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0166 a0002c0002t0010g0166	1	426	0.0023	21	c.648 others(38): Show c.648+1389_648+1409dupATTATTATTATTATTATTATT	SERHL2	ENSG00000183569.18	transcript	ENST00000327678.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
SERINC1_chr6_122438351_122476807	122441327	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG03704.hp2 NA19030.hp2 HG02559.hp2 HG03704.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0016 a0001c0001t0001g0210 a0001c0001t0002g0024 a0001c0001t0001g0016 a0001c0001t0001g0210 a0001c0001t0002g0024	3	60	0.0500	21	c.37 others(32): Show c.3716_*3717insTTTTTTTTTTTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding		2023		chr6	TogoVar
SERINC5_chr5_80133727_80261048	80174369	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18948.hp1 NA18971.hp2 others(2): Show HG02129.hp1 NA18948.hp1 NA18971.hp2 NA19057.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0002t0005 a0001c0001t0002 a0001c0002t0003 a0001c0002t0005	a0001c0001t0002g0095 a0001c0001t0002g0162 a0001c0002t0003g0035 others(2): Show a0001c0001t0002g0095 a0001c0001t0002g0162 a0001c0002t0003g0035 a0001c0002t0003g0215 a0001c0002t0005g0212	5	39	0.1282	21	c.551 others(36): Show c.551+564_551+584dupATTATTATTATTATTATTATT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	5/11			chr5	TogoVar
SERP2_chr13_44368824_44402714	44392196	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02273.hp1 HG03471.hp2 HG01993.hp2 HG02273.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0228 a0001c0001t0003g0235 a0001c0001t0003g0071 a0001c0001t0003g0228 a0001c0001t0003g0235	3	22	0.1364	21	c.158 others(38): Show c.158-5059_158-5058insAAAAAAAAAAAAAAAAAAAAA	SERP2	ENSG00000151778.11	transcript	ENST00000379179.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr13	TogoVar
SERPINB9_chr6_2882270_2908309	2900902	C C	CACACACA others(14): Show CACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0287 a0001c0001t0017g0287	1	460	0.0022	21	c.-10 others(36): Show c.-10-282_-10-281insTGTGTGTGTGTGTGTGTGTGT	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding	1/6			chr6	TogoVar
SERPIND1_chr22_20769113_20792720	20780775	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	171	0.0058	21	c.889 others(36): Show c.889+590_889+591insAAAAAAAAAAAAAAAAAAAAA	SERPIND1	ENSG00000099937.11	transcript	ENST00000215727.10	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
SERPINF1_chr17_1757060_1782565	1766567	T T	TAAAATAT others(14): Show TAAAATATAAATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG06807.hp2 NA21309.hp2 HG02717.hp2 HG06807.hp2 NA21309.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0012 a0001c0001 a0013c0012	a0001c0001t0001 a0013c0012t0001 a0001c0001t0001 a0013c0012t0001	a0001c0001t0001g0192 a0001c0001t0001g0233 a0013c0012t0001g0236 a0001c0001t0001g0192 a0001c0001t0001g0233 a0013c0012t0001g0236	3	66	0.0455	21	c.-8- others(34): Show c.-8-335_-8-334insAAATATAAATAAATAAATAAA	SERPINF1	ENSG00000132386.11	transcript	ENST00000254722.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERTAD3_chr19_40435844_40449335	40439077	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02970.hp2 HG03516.hp1 HG02145.hp2 HG02970.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0009 a0001c0001t0007g0009	3	279	0.0108	21	c.24 others(32): Show c.2412_*2413insAAAAAAAAAAAAAAAAAAAAA	SERTAD3	ENSG00000167565.13	transcript	ENST00000322354.4	protein_coding		1766		chr19	TogoVar
SERTM1_chr13_36669020_36702839	36697306	C C	CATAATAT others(14): Show CATAATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0105 a0001c0001t0045g0105	1	417	0.0024	21	c.19 others(32): Show c.1905_*1906insTAATATATATATATATATATA	SERTM1	ENSG00000180440.4	transcript	ENST00000315190.4	protein_coding	2/2	1906	INFO_REALIGN_3_PRIME	chr13	TogoVar
SERTM2_chrX_111506645_111527399	111516191	T T	TGTATGCC others(14): Show TGTATGCCTCTGTCTTCTCCTC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18951.hp1 NA18983.hp1 others(3): Show NA18747.hp1 NA18951.hp1 NA18983.hp1 NA18985.hp1 NA19070.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	6	257	0.0233	21	c.-78 others(40): Show c.-783-1883_-783-1863dupGTATGCCTCTGTCTTCTCCTC	SERTM2	ENSG00000260802.2	transcript	ENST00000569275.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SESTD1_chr2_179096678_179269832	179185734	A A	AATATATA others(14): Show AATATATAATATAGCATATTAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03492.hp1 HG02698.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0267 a0001c0001t0001g0268	2	272	0.0074	21	c.56- others(36): Show c.56-2547_56-2546insATAATATGCTATATTATATAT	SESTD1	ENSG00000187231.14	transcript	ENST00000428443.8	protein_coding	2/17			chr2	TogoVar
SETBP1_chr18_44675888_45073510	44706591	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	15	0.0667	21	c.486 others(38): Show c.486+4774_486+4794dupAAAAAAAAAAAAAAAAAAAAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44787860	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01934.hp2 HG02055.hp1 HG00140.hp1 HG01934.hp2 HG02055.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0002 a0001c0001 a0001c0010 a0002c0002	a0001c0001t0001 a0001c0010t0007 a0002c0002t0002 a0001c0001t0001 a0001c0010t0007 a0002c0002t0002	a0001c0001t0001g0018 a0001c0010t0007g0113 a0002c0002t0002g0042 a0001c0001t0001g0018 a0001c0010t0007g0113 a0002c0002t0002g0042	3	8	0.3750	21	c.487 others(40): Show c.487-81350_487-81349insAAAAAAAAAAAAAAAAAAAAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44885842	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0128 a0002c0002t0019g0128	1	78	0.0128	21	c.540 others(40): Show c.540+16573_540+16574insAAAAAAAAAAAAAAAAAAAAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44989868	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0139 a0003c0003t0001g0139	1	113	0.0088	21	c.400 others(42): Show c.4000+36547_4000+36567dupAAAAAAAAAAAAAAAAAAAAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	45013434	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02486.hp1 HG02615.hp2 others(3): Show HG01496.hp1 HG02486.hp1 HG02615.hp2 HG03453.hp1 HG03471.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0012t0003 a0001c0001t0001 a0001c0001t0002 a0001c0012t0003	a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0075 others(3): Show a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0075 a0001c0001t0001g0105 a0001c0001t0002g0026 a0001c0012t0003g0069	6	135	0.0444	21	c.400 others(42): Show c.4001-25048_4001-25047insCTTTCTTTCTTTCTTTCTTTT	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	45063770	G G	GCGGAATC others(14): Show GCGGAATCCCCCGCTGCAGGGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0041 a0001c0001t0025g0041	1	138	0.0072	21	c.74 others(28): Show c.74_*94dupGGAATCCCCCGCTGCAGGGAC	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	6/6	95	INFO_REALIGN_3_PRIME	chr18	TogoVar

Search by Variant

Search

Search Results