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
SGK1_chr6_134164256_134323112	134273592	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	47	0.0213	21	c.70- others(38): Show c.70-11465_70-11445dupTTTTTTTTTTTTTTTTTTTTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	1/13			chr6	TogoVar
SGK3_chr8_66707781_66867022	66726801	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03669.hp2 NA18946.hp2 others(5): Show HG03098.hp1 HG03669.hp2 NA18946.hp2 NA18952.hp1 NA18957.hp1 NA18982.hp1 NA18998.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 others(5): Show a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0006g0038	8	70	0.1143	21	c.-12 others(42): Show c.-122+13970_-122+13990dupAAAAAAAAAAAAAAAAAAAAA	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGMS1_chr10_50300600_50628956	50365255	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01975.hp1 HG03688.hp2 others(2): Show HG01192.hp2 HG01975.hp1 HG03688.hp2 HG03710.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0032 a0001c0001t0001g0199 a0001c0001t0002g0054 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0199 a0001c0001t0002g0054 a0001c0001t0002g0099 a0001c0002t0002g0031	5	121	0.0413	21	c.-23 others(42): Show c.-231-20931_-231-20911dupTTTTTTTTTTTTTTTTTTTTT	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	6/10			chr10	TogoVar
SGO2_chr2_200521207_200589096	200588726	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01496.hp1 HG02027.hp1 others(11): Show HG01243.hp2 HG01496.hp1 HG02027.hp1 HG02559.hp2 HG02647.hp2 HG02895.hp1 HG02897.hp2 HG03453.hp1 HG03492.hp1 HG03942.hp2 HG04199.hp1 NA18906.hp1 NA18943.hp1 NA18978.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0001c0004 a0003c0006 others(1): Show a0001c0002 a0001c0004 a0003c0006 a0004c0008	a0001c0002t0001 a0001c0004t0001 a0003c0006t0001 others(1): Show a0001c0002t0001 a0001c0004t0001 a0003c0006t0001 a0004c0008t0001	a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0001g0041 others(10): Show a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0001g0041 a0001c0002t0001g0278 a0001c0002t0001g0292 a0001c0002t0001g0298 a0001c0004t0001g0019 a0001c0004t0001g0068 a0003c0006t0001g0031 a0003c0006t0001g0161 a0003c0006t0001g0172 a0004c0008t0001g0086 a0004c0008t0001g0088	14	94	0.1489	21	c.52 others(32): Show c.5262_*5263insTTTTTTTTTTTTTTTTTTTTT	SGO2	ENSG00000163535.18	transcript	ENST00000357799.9	protein_coding		4631		chr2	TogoVar
SGPL1_chr10_70810948_70886184	70835735	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03579.hp2 HG03098.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0019 a0001c0001t0021g0019	2	349	0.0057	21	c.28- others(36): Show c.28-8720_28-8719insAAAAAAAAAAAAAAAAAAAAA	SGPL1	ENSG00000166224.18	transcript	ENST00000373202.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
SGPP2_chr2_222419543_222567621	222556686	C C	CTACTCCT others(14): Show CTACTCCTCCCCCATCCACCCT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0097 a0001c0001t0063g0097	1	270	0.0037	21	c.649 others(38): Show c.649-1661_649-1660insTACTCCTCCCCCATCCACCCT	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding	4/4			chr2	TogoVar
SGSM1_chr22_24801211_24932578	24822088	C C	CTCTCTTT others(14): Show CTCTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	74	0.0135	21	c.63+ others(38): Show c.63+15605_63+15606insCTCTTTTTTTTTTTTTTTTTT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM1_chr22_24801211_24932578	24822088	C C	CTCTTTTT others(14): Show CTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01168.hp2 others(12): Show HG00642.hp2 HG00741.hp2 HG01168.hp2 HG01943.hp2 HG01981.hp2 HG02040.hp2 HG02056.hp2 HG04184.hp2 HG04204.hp2 NA18944.hp2 NA18945.hp2 NA18962.hp2 NA19084.hp1 NA19084.hp2 NA20805.hp1	a0001 a0008 a0014 a0001 a0008 a0014	a0001c0001 a0001c0004 a0008c0037 others(1): Show a0001c0001 a0001c0004 a0008c0037 a0014c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0025 a0001c0001t0026 a0001c0004t0002 a0008c0037t0002 a0014c0028t0001	a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0087 others(12): Show a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0114 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0090 a0001c0001t0002g0096 a0001c0001t0005g0189 a0001c0001t0007g0027 a0001c0001t0025g0032 a0001c0001t0026g0077 a0001c0004t0002g0088 a0008c0037t0002g0108 a0014c0028t0001g0095	15	88	0.1705	21	c.63+ others(38): Show c.63+15605_63+15606insCTTTTTTTTTTTTTTTTTTTT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM1_chr22_24801211_24932578	24887107	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0230 a0002c0002t0002g0230	1	121	0.0083	21	c.177 others(38): Show c.1770+379_1770+380insGTGTGTGTGTGTGTGTGTGTG	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	16/24			chr22	TogoVar
SH2B2_chr7_102281868_102326711	102299197	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp2 others(48): Show HG00099.hp1 HG00140.hp1 HG00408.hp2 HG00673.hp2 HG00741.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02083.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02922.hp2 HG03688.hp2 HG03927.hp2 HG04204.hp1 NA18941.hp1 NA18942.hp2 NA18950.hp1 NA18955.hp2 NA18957.hp2 NA18966.hp2 NA18970.hp2 NA18975.hp2 NA18978.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA19002.hp2 NA19006.hp2 NA19007.hp2 NA19065.hp1 NA19080.hp2 NA19091.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0012 a0001c0018 others(1): Show a0001c0001 a0001c0012 a0001c0018 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0012t0001 a0001c0018t0001 a0003c0003t0002	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0164 others(46): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0315 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0335 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0356 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0233 a0001c0001t0002g0237 a0001c0001t0002g0386 a0001c0001t0008g0343 a0001c0012t0001g0273 a0001c0018t0001g0321 a0003c0003t0002g0384	51	143	0.3566	21	c.-29 others(38): Show c.-29-1306_-29-1305insTTTTTTTTTTTTTTTTTTTTT	SH2B2	ENSG00000160999.11	transcript	ENST00000444095.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SH2D1B_chr1_162390268_162417136	162403511	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0092 a0001c0001t0021g0092	1	340	0.0029	21	c.135 others(36): Show c.135-710_135-709insATATATATATATTTTTTTTTT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding	1/3			chr1	TogoVar
SH2D2A_chr1_156801243_156821848	156817047	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01243.hp1 NA19004.hp2 HG00140.hp2 HG01243.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0090 a0001c0001t0001g0001 a0001c0001t0001g0090	3	64	0.0469	21	c.-34 others(30): Show c.-340_-339insGAGAGAGAGAGAGAGAGAGAG	SH2D2A	ENSG00000027869.12	transcript	ENST00000368199.8	protein_coding		200		chr1	TogoVar
SH2D3C_chr9_127733317_127783666	127757645	G G	GATTATTA others(14): Show GATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA19089.hp2 HG02165.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0164 a0001c0002t0004g0167 a0001c0002t0001g0164 a0001c0002t0004g0167	2	36	0.0556	21	c.555 others(38): Show c.555+3945_555+3965dupAATAATAATAATAATAATAAT	SH2D3C	ENSG00000095370.20	transcript	ENST00000314830.13	protein_coding	3/11			chr9	TogoVar
SH2D7_chr15_78087561_78109362	78089517	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0012 a0012	a0012c0008 a0012c0008	a0012c0008t0001 a0012c0008t0001	a0012c0008t0001g0066 a0012c0008t0001g0066	1	254	0.0039	21	c.-30 others(32): Show c.-3068_-3067insTTTTTTTTTTTTTTTTTTTTT	SH2D7	ENSG00000183476.13	transcript	ENST00000328828.6	protein_coding		3043		chr15	TogoVar
SH3BGRL2_chr6_79626329_79708655	79648283	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0169 a0001c0001t0009g0169	1	345	0.0029	21	c.45+ others(38): Show c.45+16777_45+16778insATATATATATATATATATATA	SH3BGRL2	ENSG00000198478.8	transcript	ENST00000369838.6	protein_coding	1/3			chr6	TogoVar
SH3BGRL2_chr6_79626329_79708655	79700988	T T	TGCCCAGC others(14): Show TGCCCAGCACTCCGCCCCATGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0004 a0001c0001t0032g0004	1	346	0.0029	21	c.14 others(32): Show c.1480_*1500dupGCCCAGCACTCCGCCCCATGC	SH3BGRL2	ENSG00000198478.8	transcript	ENST00000369838.6	protein_coding	4/4	1501	INFO_REALIGN_3_PRIME	chr6	TogoVar
SH3BP4_chr2_234947017_235060714	235036737	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03017.hp2 HG03654.hp2 HG02523.hp2 HG03017.hp2 HG03654.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0020 a0002c0001t0007 a0002c0001t0020	a0002c0001t0007g0304 a0002c0001t0007g0314 a0002c0001t0020g0032 a0002c0001t0007g0304 a0002c0001t0007g0314 a0002c0001t0020g0032	3	344	0.0087	21	c.118 others(38): Show c.118+1619_118+1620insTAATAATAATAATAATAATAA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235036740	A A	AAAAAAAA others(14): Show AAAAAAAAAAAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0322 a0001c0002t0001g0322	1	65	0.0154	21	c.118 others(38): Show c.118+1622_118+1623insAAAAAAAAATAATAATAATAA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235036740	A A	AAAAAAAA others(14): Show AAAAAAAAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02970.hp2 HG03704.hp2 HG02818.hp1 HG02970.hp2 HG03704.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0002c0001t0005 a0001c0002t0001 a0001c0002t0002 a0002c0001t0005	a0001c0002t0001g0015 a0001c0002t0002g0114 a0002c0001t0005g0121 a0001c0002t0001g0015 a0001c0002t0002g0114 a0002c0001t0005g0121	3	67	0.0448	21	c.118 others(38): Show c.118+1622_118+1623insAAAAAATAATAATAATAATAA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235036740	A A	AAAAAATA others(14): Show AAAAAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0263 a0001c0002t0002g0263	1	65	0.0154	21	c.118 others(38): Show c.118+1622_118+1623insAAATAATAATAATAATAATAA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235036740	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02129.hp2 HG02135.hp1 others(9): Show HG00597.hp1 HG02129.hp2 HG02135.hp1 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG03041.hp1 HG03486.hp2 NA18963.hp1 NA19074.hp2 NA19240.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0030 a0002c0001 a0001c0002 a0001c0030 a0002c0001	a0001c0002t0001 a0001c0002t0004 a0001c0030t0018 others(4): Show a0001c0002t0001 a0001c0002t0004 a0001c0030t0018 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0021	a0001c0002t0001g0041 a0001c0002t0001g0230 a0001c0002t0004g0222 others(9): Show a0001c0002t0001g0041 a0001c0002t0001g0230 a0001c0002t0004g0222 a0001c0002t0004g0293 a0001c0002t0004g0307 a0001c0002t0004g0335 a0001c0030t0018g0044 a0002c0001t0001g0089 a0002c0001t0002g0059 a0002c0001t0002g0316 a0002c0001t0003g0340 a0002c0001t0021g0011	12	76	0.1579	21	c.118 others(38): Show c.118+1638_118+1639insAATAATAATAATAATAATAAT	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP5L_chr1_248805446_248830915	248829712	A A	ACCTCTCC others(14): Show ACCTCTCCCCTCTCCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	350	0.0029	21	c.-43 others(32): Show c.-4310_-4309insGGAGAGGGGAGAGGGGAGAGG	SH3BP5L	ENSG00000175137.11	transcript	ENST00000366472.6	protein_coding		3798		chr1	TogoVar
SH3D21_chr1_36301368_36326347	36313972	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(32): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00621.hp1 HG00735.hp2 HG01123.hp1 HG01168.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02027.hp1 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp2 HG02523.hp1 HG02735.hp1 HG02922.hp1 HG02976.hp2 HG03098.hp2 HG03834.hp2 NA18747.hp2 NA18949.hp1 NA18949.hp2 NA18999.hp1 NA18999.hp2 NA19066.hp1 NA19068.hp1 NA19091.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0002t0001 a0003c0004t0001 a0001c0001t0001 a0001c0002t0001 a0003c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0218 a0001c0002t0001g0002 others(16): Show a0001c0001t0001g0002 a0001c0001t0001g0218 a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0044 a0001c0002t0001g0052 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0131 a0001c0002t0001g0163 a0001c0002t0001g0166 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0213 a0001c0002t0001g0232 a0003c0004t0001g0002 a0003c0004t0001g0192	35	66	0.5303	21	c.769 others(38): Show c.769+4402_769+4403insTTTTTTTTTTTTTTTTTTTTT	SH3D21	ENSG00000214193.11	transcript	ENST00000453908.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3GL2_chr9_17574066_17802124	17623039	T T	TCCTTTCC others(14): Show TCCTTTCCTTTCCTTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01884.hp2 HG02451.hp1 others(2): Show HG00408.hp2 HG01884.hp2 HG02451.hp1 HG03195.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0107 a0001c0001t0001g0247 a0001c0001t0001g0249 others(2): Show a0001c0001t0001g0107 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0002g0248	5	150	0.0333	21	c.45+ others(38): Show c.45+43756_45+43757insTCCTTTCCTTTCCTTCCCCTT	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GL2_chr9_17574066_17802124	17645151	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	7	0.1429	21	c.45+ others(38): Show c.45+65875_45+65895dupTTTTTTTTTTTTTTTTTTTTT	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GL2_chr9_17574066_17802124	17758561	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	19	0.0526	21	c.115 others(38): Show c.115-2862_115-2842dupAAAAAAAAAAAAAAAAAAAAA	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GLB1_chr1_86699576_86753184	86724880	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0018 a0001c0001t0023g0018	1	302	0.0033	21	c.570 others(36): Show c.570+475_570+476insTATATATATATATATATATAT	SH3GLB1	ENSG00000097033.15	transcript	ENST00000370558.8	protein_coding	5/8			chr1	TogoVar
SH3GLB1_chr1_86699576_86753184	86724892	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19030.hp1 HG02145.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0107 a0001c0001t0005g0110 a0001c0001t0005g0107 a0001c0001t0005g0110	2	103	0.0194	21	c.570 others(36): Show c.570+488_570+489insAAAAAAAAAAATATATATATA	SH3GLB1	ENSG00000097033.15	transcript	ENST00000370558.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3KBP1_chrX_19528977_19892600	19531524	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	49	0.0204	21	c.48 others(32): Show c.4892_*4893insAAAAAAAAAAAAAAAAAAAAA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding		2452		chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19567549	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03209.hp1 HG02451.hp2 HG03209.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0001 a0001c0001t0001 a0004c0007t0001	a0001c0001t0001g0169 a0004c0007t0001g0166 a0001c0001t0001g0169 a0004c0007t0001g0166	2	184	0.0109	21	c.138 others(40): Show c.1384+1553_1384+1554insATATATATATATATATATATA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	13/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19813160	A A	AAAGAAGA others(14): Show AAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0191 a0001c0002t0002g0191	1	133	0.0075	21	c.162 others(40): Show c.162+22944_162+22964dupCTTCTTCTTCTTCTTCTTCTT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	2/17			chrX	TogoVar
SH3PXD2A_chr10_103589027_103860576	103662341	C C	CGGGGGGG others(14): Show CGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0223 a0001c0002t0025g0223	1	149	0.0067	21	c.473 others(38): Show c.473-1228_473-1227insCCCCCCCCCCCCCCCCCCCCC	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	7/14			chr10	TogoVar
SH3PXD2B_chr5_172328499_172459525	172329540	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG01496.hp2 others(4): Show HG00323.hp1 HG00609.hp2 HG01496.hp2 HG01934.hp1 HG02572.hp2 HG04184.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0001t0023 a0001c0001t0086 others(4): Show a0001c0001t0016 a0001c0001t0023 a0001c0001t0086 a0001c0002t0016 a0001c0002t0036 a0001c0002t0064 a0001c0002t0078	a0001c0001t0016g0135 a0001c0001t0023g0127 a0001c0001t0086g0278 others(4): Show a0001c0001t0016g0135 a0001c0001t0023g0127 a0001c0001t0086g0278 a0001c0002t0016g0111 a0001c0002t0036g0065 a0001c0002t0064g0207 a0001c0002t0078g0233	7	116	0.0603	21	c.88 others(32): Show c.8828_*8829insAAAAAAAAAAAAAAAAAAAAA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding		3958		chr5	TogoVar
SH3RF1_chr4_169089259_169275956	169146085	C C	CTATATAT others(14): Show CTATATATTCTATATAAAATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0173 a0001c0002t0018g0173	1	180	0.0056	21	c.765 others(38): Show c.765+9394_765+9395insATATTTTATATAGAATATATA	SH3RF1	ENSG00000154447.15	transcript	ENST00000284637.14	protein_coding	4/11			chr4	TogoVar
SH3RF3_chr2_109124205_109509634	109199495	G G	GAATGGAA others(14): Show GAATGGAATGGAATGGAATGGA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0161 a0002c0002t0001g0161	1	157	0.0064	21	c.573 others(40): Show c.573+69383_573+69384insATGGAATGGAATGGAATGGAA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHC2_chr19_411589_466033	458769	G G	GGCGGGTT others(14): Show GGCGGGTTCCGGGGAGGCGGAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0102 a0001c0001t0005g0102	1	203	0.0049	21	c.468 others(38): Show c.468+1739_468+1759dupTTCCGCCTCCCCGGAACCCGC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SHC4_chr15_48818741_48968919	48919295	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03927.hp1 NA18948.hp1 others(1): Show HG01952.hp2 HG03927.hp1 NA18948.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0041 a0001c0001t0001g0337 a0001c0001t0001g0338 others(1): Show a0001c0001t0001g0041 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0002g0313	4	48	0.0833	21	c.656 others(38): Show c.656+5583_656+5584insAAAAAAAAAAAAAAAAAAAAA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHCBP1L_chr1_182894865_182958166	182924701	G G	GAAAGGAA others(14): Show GAAAGGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG03209.hp2 HG00323.hp2 HG00735.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0192 a0001c0001t0001g0275 a0001c0001t0001g0092 a0001c0001t0001g0192 a0001c0001t0001g0275	3	127	0.0236	21	c.118 others(40): Show c.1182+4945_1182+4946insTCTTTCTTTCTTTCTTCCTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924703	A A	AAGGAAAG others(14): Show AAGGAAAGGAAAGGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0110 a0001c0003t0001g0110	1	291	0.0034	21	c.118 others(40): Show c.1182+4943_1182+4944insCTTCCTTTCCTTTCCTTTCCT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924974	G G	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0061 a0003c0006t0001g0061	1	283	0.0035	21	c.118 others(40): Show c.1182+4672_1182+4673insTCTTTCTTTCTTTCTTTCTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182931943	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0062 a0003c0006t0001g0062	1	121	0.0083	21	c.107 others(40): Show c.1077-2212_1077-2192dupAAAAAAAAAAAAAAAAAAAAA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	5/9			chr1	TogoVar
SHCBP1_chr16_46573591_46626379	46610544	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG04228.hp1 HG02615.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0120 a0001c0001t0001g0038 a0001c0001t0001g0120	2	16	0.1250	21	c.597 others(38): Show c.597-2176_597-2156dupAAAAAAAAAAAAAAAAAAAAA	SHCBP1	ENSG00000171241.9	transcript	ENST00000303383.8	protein_coding	4/12			chr16	TogoVar
SHISA6_chr17_11236213_11569063	11237575	G G	GGAAGAAG others(14): Show GGAAGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG02056.hp2 HG03492.hp1 others(3): Show HG00738.hp1 HG02056.hp2 HG03492.hp1 NA18747.hp1 NA18747.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0033	a0001c0001t0001g0060 a0001c0001t0002g0019 a0001c0001t0002g0061 others(3): Show a0001c0001t0001g0060 a0001c0001t0002g0019 a0001c0001t0002g0061 a0001c0001t0004g0187 a0001c0001t0014g0147 a0001c0001t0033g0173	6	30	0.2000	21	c.-38 others(32): Show c.-3848_-3847insGAAGAAGAAGAAGAAGAAGAA	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding		3637		chr17	TogoVar
SHISA9_chr16_12896598_13245416	13200440	A A	ACACACAC others(14): Show ACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0082 a0001c0002t0082	a0001c0002t0082g0186 a0001c0002t0082g0186	1	203	0.0049	21	c.692 others(38): Show c.692-2952_692-2951insCACACACACACACACACAGCA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13200442	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0118 a0001c0001t0055g0118	1	147	0.0068	21	c.692 others(38): Show c.692-2952_692-2951insCACACACACACACACACACAC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4			chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44241646	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	162	0.0062	21	c.80 others(32): Show c.8038_*8039insAAAAAAAAAAAAAAAAAAAAA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding		2018		chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44290529	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0035 a0001c0003t0017g0035	1	285	0.0035	21	c.282 others(38): Show c.282-4785_282-4784insTTTTTTTTTTTTTTTTTTTTT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	3/4			chr22	TogoVar
SHLD1_chr20_5745401_5869395	5775923	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0068 a0001c0002t0002g0068	1	132	0.0076	21	c.178 others(38): Show c.178+2882_178+2902dupTTTTTTTTTTTTTTTTTTTTT	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHLD3_chr5_65620027_65635928	65627131	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	130	0.0077	21	c.-12 others(40): Show c.-121+2031_-121+2051dupAAAAAAAAAAAAAAAAAAAAA	SHLD3	ENSG00000253251.3	transcript	ENST00000510585.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
SHMT2_chr12_57224711_57239935	57229183	A A	ATGTTCAC others(14): Show ATGTTCACAGGAAAAGCCTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0002 a0005c0007t0001g0002	1	394	0.0025	21	c.-59 others(30): Show c.-596_-595insTGTTCACAGGAAAAGCCTCAT	SHMT2	ENSG00000182199.11	transcript	ENST00000328923.8	protein_coding		527		chr12	TogoVar

Search by Variant

Search

Search Results