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
SALL4_chr20_51777331_51807521	51788129	TTTCTAAT others(22): Show TTTCTAATTTTTAAAATTAAAATGTAAACA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02976.hp2 HG03098.hp1 others(1): Show HG01884.hp1 HG02976.hp2 HG03098.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0017 a0001c0001t0013g0223 a0001c0001t0013g0017 a0001c0001t0013g0223	4	382	0.0105	-29	c.274 others(46): Show c.2742+703_2742+731delTGTTTACATTTTAATTTTAAAAATTAGA A	SALL4	ENSG00000101115.13	transcript	ENST00000217086.9	protein_coding	3/3			chr20	TogoVar
SAMD15_chr14_77372379_77397163	77372924	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0093 a0003c0003t0009g0093	1	311	0.0032	-29	c.-44 others(40): Show c.-4494_-4466delTATATATATATATATATATATATATATAT	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4454		chr14	TogoVar
SAMM50_chr22_43950442_44001529	43976617	AAGGGCTC others(22): Show AAGGGCTCTGTGAACACGAAATGACATGAT	A A	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0119 a0001c0004t0001g0119	1	376	0.0027	-29	c.778 others(44): Show c.778-130_778-102delGGCTCTGTGAACACGAAATGACATGATAG	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SARS1_chr1_109208918_109243182	109221990	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	398	0.0025	-29	c.137 others(46): Show c.137-1986_137-1958delATATATATATATATATATATTTTTTTTT T	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SART1_chr11_65956734_65985137	65970567	GCTGTGGG others(22): Show GCTGTGGGTGACCTTGTTTAGGGGAAGTCA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0172 a0001c0002t0002g0172	1	382	0.0026	-29	c.157 others(48): Show c.1572+2747_1572+2775delCTGTGGGTGACCTTGTTTAGGGGAAG TCA	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19			chr11	TogoVar
SART1_chr11_65956734_65985137	65971149	TGCTGAGG others(22): Show TGCTGAGGAGGGGGATGGTGGGATTCAGAA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0263 a0001c0005t0002g0263	1	381	0.0026	-29	c.157 others(48): Show c.1572+3355_1572+3383delGAAGCTGAGGAGGGGGATGGTGGGAT TCA	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971176	GAAGCTGA others(22): Show GAAGCTGAGGAGGGGGATGGTGGGATTCAT	G G	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0050 a0003c0008t0002g0050	1	367	0.0027	-29	c.157 others(48): Show c.1572+3356_1572+3384delAAGCTGAGGAGGGGGATGGTGGGATT CAT	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19			chr11	TogoVar
SART1_chr11_65956734_65985137	65971332	TGCTGAGG others(22): Show TGCTGAGGAGGGGGATGGTGGGATTCATGA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0066 a0001c0016t0002g0066	1	349	0.0029	-29	c.157 others(48): Show c.1572+3545_1572+3573delAGGAGGGGGATGGTGGGATTCATGAG CTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971457	TGCTGAGG others(22): Show TGCTGAGGAGGGGGATGGTGGGATTCATGA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01891.hp1 HG02074.hp2 others(27): Show HG00673.hp1 HG01891.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02155.hp2 HG02273.hp2 HG03130.hp2 NA18906.hp2 NA18944.hp1 NA18949.hp1 NA18969.hp2 NA18973.hp2 NA18975.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18989.hp2 NA18999.hp2 NA19001.hp1 NA19005.hp1 NA19009.hp2 NA19030.hp1 NA19060.hp1 NA19075.hp2 NA19084.hp1 NA19089.hp2	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0004 a0001c0007 a0003c0008 others(1): Show a0001c0004 a0001c0007 a0003c0008 a0011c0015	a0001c0004t0002 a0001c0004t0014 a0001c0007t0002 others(2): Show a0001c0004t0002 a0001c0004t0014 a0001c0007t0002 a0003c0008t0002 a0011c0015t0002	a0001c0004t0002g0005 a0001c0004t0002g0019 a0001c0004t0002g0020 others(16): Show a0001c0004t0002g0005 a0001c0004t0002g0019 a0001c0004t0002g0020 a0001c0004t0002g0021 a0001c0004t0002g0043 a0001c0004t0002g0044 a0001c0004t0002g0049 a0001c0004t0002g0054 a0001c0004t0002g0055 a0001c0004t0002g0056 a0001c0004t0002g0057 a0001c0004t0002g0058 a0001c0004t0002g0070 a0001c0004t0014g0053 a0001c0007t0002g0018 a0001c0007t0002g0048 a0003c0008t0002g0051 a0003c0008t0002g0052 a0011c0015t0002g0021	30	326	0.0920	-29	c.157 others(48): Show c.1572+3728_1572+3756delAGGAGGGGGATGGTGGGATTCATGAG CTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SBK2_chr19_55523611_55542133	55539596	CCTGGCTC others(22): Show CCTGGCTCTTAGGATTGACGGGTCTGAGAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	432	0.0023	-29	c.-25 others(40): Show c.-2574_-2546delTTCTCAGACCCGTCAATCCTAAGAGCCAG	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		2464		chr19	TogoVar
SCAF8_chr6_154728416_154839221	154831703	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02630.hp1 HG03098.hp2 others(2): Show HG02258.hp2 HG02630.hp1 HG03098.hp2 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 others(2): Show a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084	5	28	0.1786	-29	c.236 others(46): Show c.2360-225_2360-197delAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAI_chr9_124937608_125148528	125004753	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA20905.hp2 NA18970.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0045 a0001c0001t0002 a0001c0001t0045	a0001c0001t0002g0289 a0001c0001t0045g0295 a0001c0001t0002g0289 a0001c0001t0045g0295	2	303	0.0066	-29	c.862 others(46): Show c.862-1212_862-1184delAAATATATATATATATATATATATATAT A	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125004755	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01255.hp1 HG01257.hp1 others(9): Show HG01123.hp2 HG01255.hp1 HG01257.hp1 HG01496.hp1 HG01993.hp2 HG02129.hp2 NA18939.hp2 NA18966.hp2 NA18989.hp2 NA19003.hp1 NA19007.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0023 a0001c0001t0035 a0001c0007t0022	a0001c0001t0002g0282 a0001c0001t0002g0287 a0001c0001t0005g0024 others(9): Show a0001c0001t0002g0282 a0001c0001t0002g0287 a0001c0001t0005g0024 a0001c0001t0005g0291 a0001c0001t0005g0293 a0001c0001t0005g0297 a0001c0001t0005g0298 a0001c0001t0005g0299 a0001c0001t0011g0288 a0001c0001t0023g0305 a0001c0001t0035g0292 a0001c0007t0022g0304	12	303	0.0396	-29	c.862 others(46): Show c.862-1214_862-1186delAAAAATATATATATATATATATATATAT A	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125004757	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0284 a0001c0001t0043g0284	1	300	0.0033	-29	c.862 others(46): Show c.862-1216_862-1188delAAAAAAATATATATATATATATATATAT A	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125004763	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0039 a0002c0005t0039	a0002c0005t0039g0219 a0002c0005t0039g0219	1	296	0.0034	-29	c.862 others(46): Show c.862-1222_862-1194delAAAAAAAAAAAAATATATATATATATAT A	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17			chr9	TogoVar
SCG3_chr15_51676503_51726026	51709675	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03225.hp2 NA19043.hp1 HG03098.hp1 HG03225.hp2 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0003 a0002c0003t0001 a0002c0003t0003	a0002c0003t0001g0080 a0002c0003t0003g0081 a0002c0003t0003g0082 a0002c0003t0001g0080 a0002c0003t0003g0081 a0002c0003t0003g0082	3	396	0.0076	-29	c.120 others(48): Show c.1208-3656_1208-3628delATATATATATATATATATATATATAT TTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1C1_chr11_188078_199575	189441	AGGCGCAC others(22): Show AGGCGCACAGAGGCGCGGCGCGCGGGCGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01433.hp1 HG01884.hp1 others(26): Show HG01243.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0018 a0001c0004t0001g0001 a0001c0004t0001g0018	29	354	0.0819	-29	c.-36 others(40): Show c.-3658_-3630delGGCGCACAGAGGCGCGGCGCGCGGGCGCC	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		3636		chr11	TogoVar
SCGB1C2_chr17_132569_144067	133889	ACGCGGCG others(22): Show ACGCGGCGCGCCGGCGCAGGCGCACAGAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	402	0.0025	-29	c.-37 others(40): Show c.-3701_-3673delCGCGGCGCGCCGGCGCAGGCGCACAGAGG	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		3679		chr17	TogoVar
SCGN_chr6_25647215_25706783	25658002	CCTTTTTT others(22): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02080.hp2 HG02257.hp2 others(1): Show HG01074.hp1 HG02080.hp2 HG02257.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0003 a0001c0001t0001 a0001c0001t0002 a0001c0006t0003	a0001c0001t0001g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 others(1): Show a0001c0001t0001g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0006t0003g0051	4	245	0.0163	-29	c.154 others(46): Show c.154-3549_154-3521delCTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	2/10			chr6	TogoVar
SCGN_chr6_25647215_25706783	25658003	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01496.hp1 HG02818.hp1 others(3): Show HG01167.hp2 HG01496.hp1 HG02818.hp1 NA18522.hp1 NA18961.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0105 a0001c0001t0002g0206 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0105 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0003g0214 a0001c0001t0003g0216	6	135	0.0444	-29	c.154 others(46): Show c.154-3523_154-3495delTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCN11A_chr3_38840764_39056944	38877291	ATATATAT others(22): Show ATATATATGGTATATATATGGTGTATATAC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG01192.hp2 others(46): Show HG00558.hp2 HG00621.hp2 HG01192.hp2 HG01257.hp1 HG01891.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02258.hp2 HG02451.hp1 HG02602.hp2 HG02698.hp1 HG02738.hp1 HG02970.hp2 HG02976.hp2 HG03195.hp1 HG03516.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18949.hp2 NA18950.hp1 NA18959.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp2 NA18975.hp2 NA18980.hp2 NA18993.hp1 NA18998.hp1 NA19003.hp1 NA19005.hp1 NA19054.hp1 NA19054.hp2 NA19062.hp2 NA19068.hp1 NA19070.hp2 NA19081.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0001c0002t0014 a0001c0002t0016 a0001c0006t0006 a0002c0003t0001 a0002c0003t0003 a0002c0003t0008 a0002c0014t0001	a0001c0001t0001g0131 a0001c0001t0001g0143 a0001c0001t0001g0228 others(46): Show a0001c0001t0001g0131 a0001c0001t0001g0143 a0001c0001t0001g0228 a0001c0001t0002g0057 a0001c0001t0002g0100 a0001c0001t0002g0106 a0001c0001t0002g0128 a0001c0002t0001g0151 a0001c0002t0001g0155 a0001c0002t0001g0158 a0001c0002t0001g0164 a0001c0002t0001g0172 a0001c0002t0001g0176 a0001c0002t0001g0182 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0190 a0001c0002t0001g0194 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0004g0055 a0001c0002t0014g0199 a0001c0002t0016g0188 a0001c0006t0006g0305 a0002c0003t0001g0010 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0021 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0075 a0002c0003t0001g0090 a0002c0003t0001g0111 a0002c0003t0001g0126 a0002c0003t0003g0303 a0002c0003t0008g0007 a0002c0003t0008g0009 a0002c0014t0001g0238	49	312	0.1571	-29	c.339 others(48): Show c.3393+2630_3393+2658delGTATATACACCATATATATACCATAT ATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38877692	ATATATAT others(22): Show ATATATATGGTATATATATGGTGTATATAC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	312	0.0032	-29	c.339 others(48): Show c.3393+2229_3393+2257delGTATATACACCATATATATACCATAT ATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38877752	CTATATAT others(22): Show CTATATATATGGTATATATATGGTGTATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG02451.hp1 others(2): Show HG01891.hp2 HG02258.hp2 HG02451.hp1 HG02970.hp2 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0008 a0002c0003t0001 a0002c0003t0008	a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0028 others(2): Show a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0028 a0002c0003t0008g0007 a0002c0003t0008g0009	5	297	0.0168	-29	c.339 others(48): Show c.3393+2169_3393+2197delATATACACCATATATATACCATATAT ATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938536	ATATATAT others(22): Show ATATATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp2 HG01169.hp1 others(3): Show HG01109.hp2 HG01167.hp2 HG01169.hp1 HG02486.hp2 HG02922.hp2 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0002 a0001c0005t0001g0241 a0001c0005t0001g0244 others(3): Show a0001c0005t0001g0002 a0001c0005t0001g0241 a0001c0005t0001g0244 a0001c0005t0001g0246 a0001c0005t0001g0247 a0001c0005t0001g0250	6	305	0.0197	-29	c.488 others(46): Show c.488+6846_488+6874delAAAAAAAAAAAAAAATATATATATATAT A	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938540	ATATATAT others(22): Show ATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp1 HG03209.hp2 HG02559.hp2 HG02922.hp1 HG03209.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0302 a0001c0007t0005g0304 a0001c0007t0005g0309 a0001c0007t0005g0302 a0001c0007t0005g0304 a0001c0007t0005g0309	3	289	0.0104	-29	c.488 others(46): Show c.488+6842_488+6870delAAAAAAAAAAAAAAAAAAATATATATAT A	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38963364	TATATATA others(22): Show TATATATATATATATATATATATGATGGAG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp1 HG02486.hp1 others(2): Show HG00642.hp1 HG01109.hp1 HG02486.hp1 HG03139.hp1 NA19030.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0015 a0009c0021 a0001c0001 a0001c0015 a0009c0021	a0001c0001t0003 a0001c0015t0003 a0009c0021t0003 a0001c0001t0003 a0001c0015t0003 a0009c0021t0003	a0001c0001t0003g0279 a0001c0001t0003g0284 a0001c0015t0003g0285 others(2): Show a0001c0001t0003g0279 a0001c0001t0003g0284 a0001c0015t0003g0285 a0001c0015t0003g0286 a0009c0021t0003g0264	5	312	0.0160	-29	c.-27 others(48): Show c.-279-2970_-279-2942delCTCCATCATATATATATATATATATA TAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38963395	TATATATA others(22): Show TATATATATATATATATATATATGATGGAG	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01934.hp2 HG02055.hp2 others(20): Show HG01074.hp2 HG01934.hp2 HG02055.hp2 HG02258.hp1 HG02280.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03453.hp1 HG03486.hp2 HG03540.hp1 NA19043.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0003 a0001c0002t0014 a0001c0009t0007 a0001c0001t0003 a0001c0002t0014 a0001c0009t0007	a0001c0001t0003g0263 a0001c0001t0003g0266 a0001c0001t0003g0268 others(20): Show a0001c0001t0003g0263 a0001c0001t0003g0266 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0287 a0001c0001t0003g0310 a0001c0002t0014g0199 a0001c0009t0007g0200 a0001c0009t0007g0201 a0001c0009t0007g0202 a0001c0009t0007g0203	23	312	0.0737	-29	c.-27 others(48): Show c.-279-3001_-279-2973delCTCCATCATATATATATATATATATA TAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN2A_chr2_165234414_165397304	165234829	ATTTTAGT others(22): Show ATTTTAGTATGGGGTTCAGAGAATATCAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(141): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03669.hp1 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18973.hp2 NA18981.hp2 NA18985.hp1 NA18988.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18995.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19011.hp1 NA19054.hp2 NA19058.hp2 NA19060.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp2 NA19083.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0016 a0001c0017 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0002t0001 a0001c0002t0005 a0001c0002t0014 a0001c0004t0004 a0001c0005t0001 a0001c0006t0002 a0001c0007t0001 a0001c0016t0002 a0001c0017t0001 a0002c0003t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(141): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0184 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0221 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0331 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0300 a0001c0001t0002g0325 a0001c0001t0002g0329 a0001c0001t0002g0356 a0001c0001t0003g0349 a0001c0001t0003g0351 a0001c0001t0003g0352 a0001c0001t0003g0354 a0001c0001t0006g0282 a0001c0001t0007g0187 a0001c0001t0007g0188 a0001c0001t0008g0265 a0001c0001t0008g0353 a0001c0001t0009g0212 a0001c0001t0009g0230 a0001c0001t0010g0165 a0001c0001t0010g0253 a0001c0001t0013g0040 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0180 a0001c0002t0001g0227 a0001c0002t0001g0233 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0278 a0001c0002t0001g0291 a0001c0002t0001g0294 a0001c0002t0001g0299 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0005g0209 a0001c0002t0005g0326 a0001c0002t0014g0154 a0001c0004t0004g0158 a0001c0004t0004g0185 a0001c0004t0004g0226 a0001c0004t0004g0283 a0001c0004t0004g0284 a0001c0005t0001g0186 a0001c0005t0001g0350 a0001c0006t0002g0355 a0001c0007t0001g0179 a0001c0016t0002g0240 a0001c0017t0001g0196 a0002c0003t0001g0205 a0002c0003t0001g0211	144	356	0.4045	-29	c.-48 others(40): Show c.-4862_-4834delTTTTAGTATGGGGTTCAGAGAATATCAAT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding		4584		chr2	TogoVar
SCN5A_chr3_38543062_38654687	38555079	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0001 a0001c0044t0001	a0001c0044t0001g0147 a0001c0044t0001g0147	1	338	0.0030	-29	c.454 others(46): Show c.4542+548_4543-531delAAATATATATATATATATATATATATAT A	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN7A_chr2_166398573_166499249	166414550	TACCAGGC others(22): Show TACCAGGCTTCGGAATAATCTCCCACATCC	T T	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0354 a0001c0001t0001g0354	1	392	0.0026	-29	c.341 others(48): Show c.3415-1458_3415-1430delGGATGTGGGAGATTATTCCGAAGCCT GGT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166414868	ATATTATA others(22): Show ATATTATATAGGATAATATATAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(127): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01255.hp2 HG01258.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02129.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18961.hp1 NA18966.hp1 NA18967.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18995.hp2 NA19003.hp2 NA19030.hp2 NA19060.hp2 NA19062.hp1 NA19077.hp1 NA19083.hp1 NA19083.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0010 a0012 a0013 a0017 a0023 a0031 a0032	a0001c0001 a0001c0012 a0001c0034 others(11): Show a0001c0001 a0001c0012 a0001c0034 a0002c0002 a0002c0037 a0003c0003 a0005c0005 a0010c0013 a0012c0014 a0013c0019 a0017c0039 a0023c0035 a0031c0038 a0032c0036	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0012t0001 a0001c0012t0011 a0001c0034t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0037t0001 a0003c0003t0001 a0003c0003t0004 a0003c0003t0026 a0005c0005t0001 a0005c0005t0021 a0010c0013t0001 a0010c0013t0003 a0010c0013t0010 a0012c0014t0001 a0013c0019t0001 a0017c0039t0001 a0023c0035t0001 a0031c0038t0001 a0032c0036t0001	a0001c0001t0001g0046 a0001c0001t0001g0068 a0001c0001t0001g0220 others(110): Show a0001c0001t0001g0046 a0001c0001t0001g0068 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0237 a0001c0001t0003g0341 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0012t0001g0091 a0001c0012t0001g0349 a0001c0012t0011g0092 a0001c0012t0011g0308 a0001c0012t0011g0309 a0001c0034t0001g0117 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0057 a0002c0002t0001g0145 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0195 a0002c0002t0001g0204 a0002c0002t0001g0214 a0002c0002t0003g0165 a0002c0002t0003g0171 a0002c0002t0003g0183 a0002c0002t0003g0188 a0002c0002t0003g0211 a0002c0002t0004g0127 a0002c0002t0004g0161 a0002c0002t0004g0172 a0002c0002t0004g0199 a0002c0037t0001g0191 a0003c0003t0001g0009 a0003c0003t0001g0050 a0003c0003t0001g0124 a0003c0003t0001g0125 a0003c0003t0001g0126 a0003c0003t0001g0131 a0003c0003t0001g0134 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0138 a0003c0003t0001g0139 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0004g0132 a0003c0003t0004g0140 a0003c0003t0004g0141 a0003c0003t0004g0142 a0003c0003t0004g0202 a0003c0003t0026g0133 a0005c0005t0001g0004 a0005c0005t0001g0005 a0005c0005t0001g0034 a0005c0005t0001g0038 a0005c0005t0021g0032 a0010c0013t0001g0023 a0010c0013t0003g0019 a0010c0013t0010g0020 a0010c0013t0010g0021 a0012c0014t0001g0197 a0012c0014t0001g0198 a0012c0014t0001g0251 a0012c0014t0001g0277 a0013c0019t0001g0149 a0013c0019t0001g0150 a0017c0039t0001g0179 a0023c0035t0001g0135 a0031c0038t0001g0210 a0032c0036t0001g0194	130	390	0.3333	-29	c.341 others(48): Show c.3415-1776_3415-1748delATATATATTATATATTATCCTATATA ATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN8A_chr12_51586233_51817864	51721093	ATATATAT others(22): Show ATATATATATATATAATATTTATTTATTGT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02922.hp2 HG03453.hp2 HG01884.hp2 HG02922.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0011 a0001c0002 a0001c0006 a0001c0011	a0001c0002t0001 a0001c0006t0001 a0001c0011t0025 a0001c0002t0001 a0001c0006t0001 a0001c0011t0025	a0001c0002t0001g0189 a0001c0006t0001g0103 a0001c0011t0025g0113 a0001c0002t0001g0189 a0001c0006t0001g0103 a0001c0011t0025g0113	3	200	0.0150	-29	c.163 others(46): Show c.1636-442_1636-414delTATAATATTTATTTATTGTTATATATAT A	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN9A_chr2_166190185_166380944	166340586	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG06807.hp2 others(1): Show HG02896.hp1 HG02897.hp1 HG06807.hp2 NA19030.hp1	a0001 a0013 a0001 a0013	a0001c0002 a0001c0004 a0013c0032 a0001c0002 a0001c0004 a0013c0032	a0001c0002t0005 a0001c0004t0001 a0013c0032t0013 a0001c0002t0005 a0001c0004t0001 a0013c0032t0013	a0001c0002t0005g0255 a0001c0004t0001g0136 a0013c0032t0013g0082 others(1): Show a0001c0002t0005g0255 a0001c0004t0001g0136 a0013c0032t0013g0082 a0013c0032t0013g0183	4	294	0.0136	-29	c.-50 others(48): Show c.-50-28809_-50-28781delAAAGAAAGAAAAAGAAAGAAAGAAAG AAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166340587	TTTCTTTC others(22): Show TTTCTTTCTTTCTTTCTTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0007 a0002c0020t0007	a0002c0020t0007g0207 a0002c0020t0007g0207	1	294	0.0034	-29	c.-50 others(48): Show c.-50-28810_-50-28782delGAAAGAAAGAAAAAGAAAGAAAGAAA GAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26			chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1289843	CCGTGTCC others(22): Show CCGTGTCCGTCCCCCGAGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	277	0.0036	-29	c.166 others(46): Show c.1663-426_1663-398delGTGTCCGTCCCCCGAGTCTCTGCTCCGT C	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43281480	CCCTCTTT others(22): Show CCCTCTTTGGCCACCCTCCTGTCACCTCCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03516.hp1 HG01891.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0037 a0002c0002 a0002c0037	a0002c0002t0004 a0002c0037t0064 a0002c0002t0004 a0002c0037t0064	a0002c0002t0004g0240 a0002c0037t0064g0254 a0002c0002t0004g0240 a0002c0037t0064g0254	2	268	0.0075	-29	c.484 others(46): Show c.484+9537_484+9565delAGGAGGTGACAGGAGGGTGGCCAAAGAG G	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SDCCAG8_chr1_243251041_243505091	243462446	GTTTCCCT others(22): Show GTTTCCCTCCTAACACTGTCATACACACAT	G G	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0147 a0002c0003t0001g0147	1	188	0.0053	-29	c.198 others(50): Show c.1986-26567_1986-26539delTTTCCCTCCTAACACTGTCATACA CACAT	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17			chr1	TogoVar
SDF4_chr1_1211931_1237001	1225720	CGCCACAG others(22): Show CGCCACAGACACGGGCCACACACTCCACAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(52): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG01074.hp1 HG01106.hp2 HG01123.hp2 HG01515.hp2 HG01516.hp2 HG01928.hp1 HG01934.hp2 HG01978.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp2 HG02258.hp1 HG02523.hp2 HG02717.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03831.hp2 NA18747.hp1 NA18940.hp2 NA18951.hp2 NA18955.hp1 NA18966.hp1 NA18977.hp1 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19009.hp2 NA19012.hp1 NA19056.hp1 NA19062.hp1 NA19070.hp1 NA19081.hp2 NA19090.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0002c0005 others(2): Show a0001c0001 a0002c0004 a0002c0005 a0002c0011 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0002c0004t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0004t0005 a0002c0004t0022 a0002c0005t0005 a0002c0011t0005 a0003c0009t0005	a0001c0001t0001g0025 a0001c0001t0001g0181 a0001c0001t0001g0185 others(38): Show a0001c0001t0001g0025 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0002g0015 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0204 a0002c0004t0005g0030 a0002c0004t0005g0067 a0002c0004t0005g0068 a0002c0004t0005g0069 a0002c0004t0005g0070 a0002c0004t0005g0071 a0002c0004t0022g0066 a0002c0005t0005g0201 a0002c0005t0005g0202 a0002c0011t0005g0200 a0003c0009t0005g0072	55	396	0.1389	-29	c.306 others(46): Show c.306-1781_306-1753delATGTGGAGTGTGTGGCCCGTGTCTGTGG C	SDF4	ENSG00000078808.20	transcript	ENST00000360001.12	protein_coding	2/6			chr1	TogoVar
SDHB_chr1_17013722_17059032	17053173	TGTTTCTT others(22): Show TGTTTCTTGGCCATACAAGGGGCGTGGGAA	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	366	0.0027	-29	c.72+ others(42): Show c.72+746_72+774delTTCCCACGCCCCTTGTATGGCCAAGAAAC	SDHB	ENSG00000117118.11	transcript	ENST00000375499.8	protein_coding	1/7			chr1	TogoVar
SDK1_chr7_3296252_4274000	4263666	GGGGAGGC others(22): Show GGGGAGGCCGCGTAGACCTCTCCTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01167.hp1 HG01243.hp1 others(8): Show HG00408.hp2 HG01167.hp1 HG01243.hp1 HG02258.hp2 HG02622.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03491.hp1 NA20300.hp2	a0001 a0002 a0009 others(3): Show a0001 a0002 a0009 a0015 a0024 a0026	a0001c0014 a0001c0017 a0001c0061 others(6): Show a0001c0014 a0001c0017 a0001c0061 a0001c0072 a0002c0053 a0009c0019 a0015c0074 a0024c0023 a0026c0028	a0001c0014t0018 a0001c0017t0011 a0001c0061t0031 others(6): Show a0001c0014t0018 a0001c0017t0011 a0001c0061t0031 a0001c0072t0065 a0002c0053t0067 a0009c0019t0074 a0015c0074t0042 a0024c0023t0030 a0026c0028t0049	a0001c0014t0018g0060 a0001c0014t0018g0062 a0001c0017t0011g0051 others(8): Show a0001c0014t0018g0060 a0001c0014t0018g0062 a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0061t0031g0100 a0001c0072t0065g0027 a0002c0053t0067g0034 a0009c0019t0074g0006 a0015c0074t0042g0081 a0024c0023t0030g0113 a0026c0028t0049g0035	11	114	0.0965	-29	c.638 others(48): Show c.6382-1400_6382-1372delAGGGAGGCCGCGTAGACCTCTCCTGA GTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4264441	AAGGCCGC others(22): Show AAGGCCGCGTGGACCTCTCCTGAGTGAGGG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01175.hp1 HG01361.hp1 others(1): Show HG01167.hp2 HG01175.hp1 HG01361.hp1 NA19043.hp2	a0001 a0010 a0017 others(1): Show a0001 a0010 a0017 a0034	a0001c0038 a0010c0079 a0017c0035 others(1): Show a0001c0038 a0010c0079 a0017c0035 a0034c0052	a0001c0038t0013 a0010c0079t0054 a0017c0035t0005 others(1): Show a0001c0038t0013 a0010c0079t0054 a0017c0035t0005 a0034c0052t0032	a0001c0038t0013g0038 a0010c0079t0054g0071 a0017c0035t0005g0058 others(1): Show a0001c0038t0013g0038 a0010c0079t0054g0071 a0017c0035t0005g0058 a0034c0052t0032g0107	4	65	0.0615	-29	c.638 others(46): Show c.6382-570_6382-542delAGGGAGGCCGCGTGGACCTCTCCTGAGT G	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4264731	AAGGCCGT others(22): Show AAGGCCGTGTAGACCTCTCCTGAGTGAGGG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01175.hp1 NA19043.hp2 HG01167.hp2 HG01175.hp1 NA19043.hp2	a0001 a0010 a0034 a0001 a0010 a0034	a0001c0038 a0010c0079 a0034c0052 a0001c0038 a0010c0079 a0034c0052	a0001c0038t0013 a0010c0079t0054 a0034c0052t0032 a0001c0038t0013 a0010c0079t0054 a0034c0052t0032	a0001c0038t0013g0038 a0010c0079t0054g0071 a0034c0052t0032g0107 a0001c0038t0013g0038 a0010c0079t0054g0071 a0034c0052t0032g0107	3	116	0.0259	-29	c.638 others(46): Show c.6382-371_6382-343delAGTGAGGGAGGCCGTGTAGACCTCTCCT G	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDSL_chr12_113417380_113443276	113417754	CTGTCATA others(22): Show CTGTCATATTCTTTGCAAAGGCAGTTTCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	296	0.0034	-29	c.-47 others(40): Show c.-4744_-4716delTGTCATATTCTTTGCAAAGGCAGTTTCGG	SDSL	ENSG00000139410.15	transcript	ENST00000403593.9	protein_coding		4625		chr12	TogoVar
SEC14L3_chr22_30454229_30477017	30454876	TATTATTA others(22): Show TATTATTATATATTATATAATAGATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	452	0.0022	-29	c.51 others(40): Show c.5116_*5144delTATATATCTATTATATAATATATAATAAT	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4352		chr22	TogoVar
SEC14L4_chr22_30483902_30510695	30510310	GCCAGGCG others(22): Show GCCAGGCGTGGTGGCATGCTCCTGTAGTCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	-29	c.-47 others(40): Show c.-4728_-4700delGGACTACAGGAGCATGCCACCACGCCTGG	SEC14L4	ENSG00000133488.15	transcript	ENST00000255858.12	protein_coding		4616		chr22	TogoVar
SEC22B_chr1_120145898_120181520	120175556	GTTTCTAA others(22): Show GTTTCTAAAACACAAAACATCTTTCTTTTA	G G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0054 a0001c0002t0002g0054	1	378	0.0026	-29	c.75+ others(42): Show c.75+722_75+750delTAAAAGAAAGATGTTTTGTGTTTTAGAAA	SEC22B	ENSG00000265808.4	transcript	ENST00000578049.4	protein_coding	1/4			chr1	TogoVar
SEC31A_chr4_82813509_82896153	82837170	TATATATA others(22): Show TATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	326	0.0031	-29	c.296 others(48): Show c.2968+4941_2968+4969delTATATATATATATATATATATATATA TAT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SELE_chr1_169717640_169739079	169737410	TATATAGA others(22): Show TATATAGATATTTTTATATTTTATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02056.hp1 HG02080.hp2 others(2): Show HG02015.hp2 HG02056.hp1 HG02080.hp2 NA18980.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0053 a0001c0001t0002g0018 a0001c0001t0002g0053	5	414	0.0121	-29	c.-35 others(40): Show c.-3517_-3489delTTATATATAAAATATAAAAATATCTATAT	SELE	ENSG00000007908.16	transcript	ENST00000333360.12	protein_coding		3332		chr1	TogoVar
SEMA3E_chr7_83358238_83654139	83389701	CACATATA others(22): Show CACATATATACACGTATATATTACATGTAT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp1 HG03041.hp2 others(4): Show HG02647.hp1 HG02886.hp1 HG03041.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0010 a0002c0004 a0001c0005 a0001c0010 a0002c0004	a0001c0005t0059 a0001c0010t0012 a0002c0004t0013 a0001c0005t0059 a0001c0010t0012 a0002c0004t0013	a0001c0005t0059g0132 a0001c0010t0012g0010 a0001c0010t0012g0011 others(4): Show a0001c0005t0059g0132 a0001c0010t0012g0010 a0001c0010t0012g0011 a0001c0010t0012g0012 a0002c0004t0013g0174 a0002c0004t0013g0175 a0002c0004t0013g0178	7	157	0.0446	-29	c.166 others(48): Show c.1668-2680_1668-2652delATACATGTAATATATACGTGTATATA TGT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SEMA5A_chr5_9030033_9551075	9516461	CCCGTATA others(22): Show CCCGTATAGTCAGCTGTGAAGGTTATAACG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG01243.hp2 others(11): Show HG00140.hp2 HG00741.hp2 HG01243.hp2 HG02257.hp2 HG02451.hp1 HG02602.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03540.hp2 NA18906.hp2 NA18944.hp2 NA19068.hp1 NA20129.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0002c0014 a0005c0020	a0001c0001t0001 a0001c0001t0032 a0001c0001t0046 others(10): Show a0001c0001t0001 a0001c0001t0032 a0001c0001t0046 a0001c0001t0054 a0001c0001t0056 a0001c0003t0019 a0001c0003t0051 a0001c0004t0001 a0001c0006t0043 a0001c0007t0016 a0001c0008t0001 a0002c0014t0057 a0005c0020t0071	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0032g0067 others(11): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0032g0067 a0001c0001t0046g0023 a0001c0001t0054g0094 a0001c0001t0056g0096 a0001c0003t0019g0104 a0001c0003t0051g0079 a0001c0004t0001g0020 a0001c0006t0043g0007 a0001c0007t0016g0095 a0001c0008t0001g0046 a0002c0014t0057g0087 a0005c0020t0071g0108	14	132	0.1061	-29	c.-17 others(50): Show c.-175+29094_-175+29122delCGTTATAACCTTCACAGCTGACTA TACGG	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	1/22			chr5	TogoVar

Search by Variant

Search

Search Results