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
SCN11A_chr3_38840764_39056944	38938546	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0261 a0001c0016t0001g0261	1	298	0.0034	-17	c.488 others(34): Show c.488+6848_488+6864delAAAAAAAAAAAAATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38950057	ACCCCCAC others(10): Show ACCCCCACCCCCACCCCC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp2 HG02895.hp1 others(3): Show HG02559.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG03130.hp1 HG03139.hp2	a0001 a0008 a0001 a0008	a0001c0011 a0001c0012 a0001c0016 others(1): Show a0001c0011 a0001c0012 a0001c0016 a0008c0017	a0001c0011t0011 a0001c0012t0001 a0001c0016t0001 others(1): Show a0001c0011t0011 a0001c0012t0001 a0001c0016t0001 a0008c0017t0015	a0001c0011t0011g0256 a0001c0011t0011g0257 a0001c0012t0001g0258 others(3): Show a0001c0011t0011g0256 a0001c0011t0011g0257 a0001c0012t0001g0258 a0001c0012t0001g0259 a0001c0016t0001g0261 a0008c0017t0015g0208	6	302	0.0199	-17	c.267 others(30): Show c.267+22_267+38delGGGGGTGGGGGTGGGGG	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	5/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38981032	GGTAGCAG others(10): Show GGTAGCAGAACAAACCCT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01891.hp2 HG01978.hp1 others(32): Show HG00408.hp1 HG01891.hp2 HG01978.hp1 HG02071.hp1 HG02083.hp1 HG02145.hp2 HG02258.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02683.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03195.hp1 HG03471.hp2 HG03516.hp1 HG03834.hp1 NA18940.hp2 NA18950.hp1 NA18959.hp1 NA18963.hp2 NA18964.hp1 NA18968.hp1 NA18980.hp2 NA18995.hp2 NA18998.hp1 NA19054.hp2 NA19062.hp2 NA19068.hp1 NA19070.hp1 NA19080.hp1 NA19083.hp1 NA19088.hp2 NA20129.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0003 a0010c0018 a0001c0001 a0002c0003 a0010c0018	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0002c0003t0008 a0010c0018t0002	a0001c0001t0001g0228 a0001c0001t0002g0006 a0001c0001t0002g0022 others(32): Show a0001c0001t0001g0228 a0001c0001t0002g0006 a0001c0001t0002g0022 a0002c0003t0001g0010 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0013 a0002c0003t0001g0014 a0002c0003t0001g0015 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0008g0007 a0002c0003t0008g0008 a0002c0003t0008g0009 a0010c0018t0002g0016	35	312	0.1122	-17	c.-27 others(38): Show c.-279-20626_-279-20610delAGGGTTTGTTCTGCTAC	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN1A_chr2_165980813_166133020	166039910	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02647.hp2 others(7): Show HG02258.hp1 HG02451.hp1 HG02647.hp2 HG02717.hp1 HG03098.hp1 HG03225.hp2 HG06807.hp1 HG06807.hp2 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0021 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0021 a0001c0001t0039 a0001c0001t0045	a0001c0001t0001g0036 a0001c0001t0012g0026 a0001c0001t0012g0028 others(7): Show a0001c0001t0001g0036 a0001c0001t0012g0026 a0001c0001t0012g0028 a0001c0001t0012g0030 a0001c0001t0012g0032 a0001c0001t0012g0115 a0001c0001t0021g0345 a0001c0001t0021g0346 a0001c0001t0039g0037 a0001c0001t0045g0087	10	16	0.6250	-17	c.241 others(34): Show c.2416-331_2416-315delAAAAAAAAAAAAAAAAA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	16/28			chr2	TogoVar
SCN1B_chr19_35025470_35045449	35029542	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0061 a0001c0001t0021g0061	1	21	0.0476	-17	c.-12 others(28): Show c.-1278_-1262delAAAAAAAAAAAAAAAAA	SCN1B	ENSG00000105711.14	transcript	ENST00000262631.11	protein_coding		927		chr19	TogoVar
SCN2B_chr11_118157806_118181639	118178887	ATTATTAT others(10): Show ATTATTATTATTATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02055.hp1 HG02056.hp2 others(11): Show HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02965.hp2 HG03139.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp1 NA18987.hp2 NA18991.hp1 NA18993.hp1 NA19058.hp2 NA19080.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 others(4): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0001t0026 a0001c0001t0034 a0001c0001t0044 a0001c0001t0045	a0001c0001t0005g0011 a0001c0001t0005g0052 a0001c0001t0005g0172 others(9): Show a0001c0001t0005g0011 a0001c0001t0005g0052 a0001c0001t0005g0172 a0001c0001t0005g0222 a0001c0001t0010g0029 a0001c0001t0014g0045 a0001c0001t0014g0165 a0001c0001t0014g0175 a0001c0001t0026g0202 a0001c0001t0034g0068 a0001c0001t0044g0170 a0001c0001t0045g0171	14	434	0.0323	-17	c.-24 others(28): Show c.-2473_-2457delAAAAATAATAATAATAA	SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding		2249		chr11	TogoVar
SCN2B_chr11_118157806_118181639	118178890	ATTATTAT others(10): Show ATTATTATTATTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 NA18985.hp1 HG00642.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0016 a0001c0001t0005 a0001c0001t0016	a0001c0001t0005g0174 a0001c0001t0016g0209 a0001c0001t0005g0174 a0001c0001t0016g0209	2	383	0.0052	-17	c.-24 others(28): Show c.-2476_-2460delAAAAAAAATAATAATAA	SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding		2252		chr11	TogoVar
SCN2B_chr11_118157806_118181639	118178899	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0198 a0001c0001t0003g0198	1	187	0.0053	-17	c.-24 others(28): Show c.-2485_-2469delAAAAAAAAAAAAAAAAA	SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding		2261		chr11	TogoVar
SCN8A_chr12_51586233_51817864	51639879	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0102 a0001c0013t0001g0102	1	18	0.0556	-17	c.-54 others(36): Show c.-54-22863_-54-22847delTTTTTTTTTTTTTTTTT	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN8A_chr12_51586233_51817864	51721105	ATAATATT others(10): Show ATAATATTTATTTATTGT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01070.hp1 HG01071.hp1 others(5): Show HG00733.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01517.hp2 HG02486.hp1 HG03490.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0001 a0001c0002t0001 a0001c0008t0001	a0001c0002t0001g0123 a0001c0002t0001g0164 a0001c0002t0001g0166 others(5): Show a0001c0002t0001g0123 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0008t0001g0149	8	200	0.0400	-17	c.163 others(34): Show c.1636-438_1636-422delATATTTATTTATTGTTA	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN8A_chr12_51586233_51817864	51772150	CTGTGGGA others(10): Show CTGTGGGAGGCCAAGACG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0064 a0001c0003t0010g0064	1	200	0.0050	-17	c.364 others(36): Show c.3645+1470_3645+1486delTGGGAGGCCAAGACGTG	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN9A_chr2_166190185_166380944	166199975	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG02572.hp2 others(4): Show HG01168.hp2 HG01169.hp2 HG02572.hp2 HG02818.hp1 HG03492.hp2 HG03516.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0022 a0001c0026 a0001c0002 a0001c0022 a0001c0026	a0001c0002t0001 a0001c0002t0035 a0001c0022t0008 others(1): Show a0001c0002t0001 a0001c0002t0035 a0001c0022t0008 a0001c0026t0008	a0001c0002t0001g0017 a0001c0002t0035g0295 a0001c0022t0008g0108 others(4): Show a0001c0002t0001g0017 a0001c0002t0035g0295 a0001c0022t0008g0108 a0001c0022t0008g0109 a0001c0022t0008g0185 a0001c0026t0008g0124 a0001c0026t0008g0267	7	26	0.2692	-17	c.477 others(34): Show c.4775-128_4775-112delAAAAAAAAAAAAAAAAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166201198	CACACATA others(10): Show CACACATACTATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp2 HG01167.hp1 others(22): Show HG00642.hp2 HG01081.hp2 HG01167.hp1 HG01192.hp1 HG01255.hp1 HG01361.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG02040.hp2 HG02071.hp1 HG02129.hp1 HG02155.hp2 HG02293.hp2 HG02523.hp2 NA18939.hp1 NA18946.hp2 NA18960.hp2 NA18977.hp1 NA18981.hp2 NA18994.hp2 NA19082.hp1	a0003 a0005 a0010 others(1): Show a0003 a0005 a0010 a0019	a0003c0013 a0003c0014 a0003c0028 others(10): Show a0003c0013 a0003c0014 a0003c0028 a0003c0033 a0003c0052 a0003c0060 a0003c0064 a0005c0016 a0005c0027 a0005c0068 a0010c0048 a0010c0062 a0019c0039	a0003c0013t0003 a0003c0014t0003 a0003c0028t0003 others(11): Show a0003c0013t0003 a0003c0014t0003 a0003c0028t0003 a0003c0033t0003 a0003c0052t0003 a0003c0060t0003 a0003c0064t0003 a0005c0016t0003 a0005c0027t0003 a0005c0027t0020 a0005c0068t0003 a0010c0048t0003 a0010c0062t0003 a0019c0039t0003	a0003c0013t0003g0158 a0003c0013t0003g0159 a0003c0013t0003g0160 others(22): Show a0003c0013t0003g0158 a0003c0013t0003g0159 a0003c0013t0003g0160 a0003c0013t0003g0216 a0003c0014t0003g0054 a0003c0014t0003g0055 a0003c0014t0003g0066 a0003c0014t0003g0085 a0003c0028t0003g0053 a0003c0028t0003g0059 a0003c0033t0003g0220 a0003c0033t0003g0230 a0003c0052t0003g0130 a0003c0060t0003g0273 a0003c0064t0003g0039 a0005c0016t0003g0214 a0005c0016t0003g0221 a0005c0016t0003g0222 a0005c0016t0003g0225 a0005c0027t0003g0119 a0005c0027t0020g0005 a0005c0068t0003g0224 a0010c0048t0003g0234 a0010c0062t0003g0062 a0019c0039t0003g0268	25	294	0.0850	-17	c.477 others(36): Show c.4775-1351_4775-1335delATATATATAGTATGTGT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166201248	GTATACAT others(10): Show GTATACATATACTATACA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02258.hp2 HG02572.hp1 others(12): Show HG01255.hp2 HG02258.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG03139.hp1 HG03453.hp1 HG03540.hp1 HG03579.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0013 a0021 a0024	a0001c0003 a0001c0011 a0001c0018 others(9): Show a0001c0003 a0001c0011 a0001c0018 a0002c0009 a0002c0020 a0002c0036 a0002c0061 a0002c0067 a0004c0008 a0013c0032 a0021c0043 a0024c0046	a0001c0003t0013 a0001c0011t0018 a0001c0018t0034 others(9): Show a0001c0003t0013 a0001c0011t0018 a0001c0018t0034 a0002c0009t0004 a0002c0020t0007 a0002c0036t0007 a0002c0061t0007 a0002c0067t0007 a0004c0008t0022 a0013c0032t0013 a0021c0043t0007 a0024c0046t0018	a0001c0003t0013g0289 a0001c0011t0018g0021 a0001c0018t0034g0290 others(12): Show a0001c0003t0013g0289 a0001c0011t0018g0021 a0001c0018t0034g0290 a0002c0009t0004g0036 a0002c0020t0007g0207 a0002c0020t0007g0257 a0002c0020t0007g0287 a0002c0036t0007g0240 a0002c0061t0007g0161 a0002c0067t0007g0028 a0004c0008t0022g0010 a0013c0032t0013g0082 a0013c0032t0013g0183 a0021c0043t0007g0277 a0024c0046t0018g0019	15	294	0.0510	-17	c.477 others(36): Show c.4775-1401_4775-1385delTGTATAGTATATGTATA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166222930	CAAAAAAA others(10): Show CAAAAAAAAAAACAACAA	C C	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18994.hp1 NA18953.hp2 NA18994.hp1	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0005 a0001c0007t0005 a0001c0006t0005 a0001c0007t0005	a0001c0006t0005g0147 a0001c0007t0005g0260 a0001c0006t0005g0147 a0001c0007t0005g0260	2	271	0.0074	-17	c.439 others(36): Show c.4398+3620_4398+3636delTTGTTGTTTTTTTTTTT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	24/26			chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23305524	AATATATA others(10): Show AATATATATATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG01168.hp1 others(27): Show HG00099.hp1 HG00639.hp2 HG01168.hp1 HG01169.hp1 HG01496.hp2 HG01934.hp1 HG02071.hp1 HG02135.hp1 HG02165.hp1 HG02809.hp1 HG03492.hp1 HG04115.hp2 HG04184.hp1 NA18522.hp2 NA18747.hp1 NA18949.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp1 NA18968.hp1 NA18979.hp1 NA19000.hp2 NA19009.hp2 NA19011.hp1 NA19057.hp2 NA19070.hp2 NA19086.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0006t0001 a0002c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0035 a0001c0001t0001g0036 others(27): Show a0001c0001t0001g0008 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0299 a0001c0001t0002g0039 a0001c0001t0002g0061 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0006t0001g0044 a0001c0006t0001g0046 a0002c0004t0001g0059	30	230	0.1304	-17	c.-9+ others(32): Show c.-9+3098_-9+3114delTATATATATATATATAT	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23342272	AGTTTCAC others(10): Show AGTTTCACTCTTGACACC	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	304	0.0033	-17	c.-8- others(32): Show c.-8-6319_-8-6303delGTTTCACTCTTGACACC	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12			chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1288494	CCCGTGTC others(10): Show CCCGTGTCTCTGCCCCGT	C C	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0029 a0029	a0029c0040 a0029c0040	a0029c0040t0012 a0029c0040t0012	a0029c0040t0012g0132 a0029c0040t0012g0132	1	286	0.0035	-17	c.166 others(34): Show c.1662+460_1662+476delGTGTCTCTGCCCCGTCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	52934592	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01884.hp1 HG02055.hp1 others(5): Show HG00323.hp2 HG01884.hp1 HG02055.hp1 HG02109.hp1 HG02622.hp2 HG02896.hp2 HG03486.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0006 a0001c0002t0002 a0001c0003t0008 a0001c0001t0006 a0001c0002t0002 a0001c0003t0008	a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 others(5): Show a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0002t0002g0043 a0001c0003t0008g0032 a0001c0003t0008g0033	8	22	0.3636	-17	c.69+ others(32): Show c.69+7149_69+7165delTTTTTTTTTTTTTTTTT	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119460072	GAAGCAGG others(10): Show GAAGCAGGAGGGCTCAGC	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03704.hp1 HG03831.hp2 HG03239.hp1 HG03704.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0004 a0001c0001t0001 a0001c0001t0004 a0001c0002t0004	a0001c0001t0001g0236 a0001c0001t0004g0027 a0001c0002t0004g0019 a0001c0001t0001g0236 a0001c0001t0004g0027 a0001c0002t0004g0019	3	287	0.0105	-17	c.790 others(34): Show c.790+1758_790+1774delGCTGAGCCCTCCTGCTT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	7/12			chr2	TogoVar
SCT_chr11_621309_632181	628954	TTTTTCTT others(10): Show TTTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	409	0.0024	-17	c.-18 others(28): Show c.-1828_-1812delGAAAGAAAGAAAGAAAA	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		1774		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43197499	GCACAGCG others(10): Show GCACAGCGCCCTGGTGTC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0018 a0001c0006t0018	a0001c0006t0018g0063 a0001c0006t0018g0166 a0001c0006t0018g0063 a0001c0006t0018g0166	2	278	0.0072	-17	c.64 others(28): Show c.6481_*6497delGACACCAGGGCGCTGTG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	22/22	6481		chr22	TogoVar
SCYGR7_chr2_227723335_227733625	227732092	AGGGCAGG others(10): Show AGGGCAGGAGGACAGGTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0000 a0006c0008t0001g0000	1	454	0.0022	-17	c.34 others(28): Show c.3468_*3484delGGGCAGGAGGACAGGTT	SCYGR7	ENSG00000284718.1	transcript	ENST00000641700.1	protein_coding		3468		chr2	TogoVar
SCYL1_chr11_65520083_65543704	65530550	CTCCTTGT others(10): Show CTCCTTGTCCTCACCCAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	276	0.0036	-17	c.850 others(30): Show c.850-78_850-62delTCCTTGTCCTCACCCAT	SCYL1	ENSG00000142186.18	transcript	ENST00000270176.10	protein_coding	6/17			chr11	TogoVar
SDCBP_chr8_58548261_58587858	58572808	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03130.hp1 NA18906.hp2 HG02451.hp2 HG03130.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0042 a0001c0003t0005g0103 a0001c0003t0005g0042 a0001c0003t0005g0103	3	386	0.0078	-17	c.240 others(32): Show c.240+495_240+511delTTTTTTTTTTTTTTTTG	SDCBP	ENSG00000137575.12	transcript	ENST00000260130.9	protein_coding	4/8			chr8	TogoVar
SDCCAG8_chr1_243251041_243505091	243353490	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0119 a0001c0002t0002g0119	1	15	0.0667	-17	c.147 others(36): Show c.1473+9176_1473+9192delAAAAAAAAAAAAAAAAA	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243480292	GTGGATGG others(10): Show GTGGATGGATGAGTGGGA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01981.hp2 HG02451.hp1 others(13): Show HG00609.hp1 HG01981.hp2 HG02451.hp1 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp2 NA19007.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0003 a0001c0001 a0001c0009 a0002c0003	a0001c0001t0001 a0001c0009t0001 a0002c0003t0001 a0001c0001t0001 a0001c0009t0001 a0002c0003t0001	a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0042 others(13): Show a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0009t0001g0188 a0002c0003t0001g0171 a0002c0003t0001g0175 a0002c0003t0001g0176	16	188	0.0851	-17	c.198 others(36): Show c.1986-8711_1986-8695delAGTGGGATGGATGGATG	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDHAF4_chr6_70561930_70594569	70562643	GGCATGCA others(10): Show GGCATGCACCTGTAGTCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	368	0.0027	-17	c.-42 others(28): Show c.-4297_-4281delGCATGCACCTGTAGTCC	SDHAF4	ENSG00000154079.6	transcript	ENST00000370474.4	protein_coding		4286		chr6	TogoVar
SDK1_chr7_3296252_4274000	4012549	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02723.hp1 HG02809.hp2 others(4): Show HG00735.hp1 HG02723.hp1 HG02809.hp2 HG03209.hp1 NA19043.hp2 NA20129.hp1 NA20300.hp2	a0001 a0005 a0022 others(1): Show a0001 a0005 a0022 a0034	a0001c0011 a0001c0037 a0001c0046 others(4): Show a0001c0011 a0001c0037 a0001c0046 a0001c0072 a0005c0055 a0022c0094 a0034c0052	a0001c0011t0008 a0001c0037t0002 a0001c0046t0022 others(4): Show a0001c0011t0008 a0001c0037t0002 a0001c0046t0022 a0001c0072t0065 a0005c0055t0055 a0022c0094t0025 a0034c0052t0032	a0001c0011t0008g0028 a0001c0037t0002g0077 a0001c0046t0022g0091 others(4): Show a0001c0011t0008g0028 a0001c0037t0002g0077 a0001c0046t0022g0091 a0001c0072t0065g0027 a0005c0055t0055g0021 a0022c0094t0025g0049 a0034c0052t0032g0107	7	11	0.6364	-17	c.242 others(34): Show c.2420+341_2420+357delTTTTTTTTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4065694	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19043.hp2 HG02630.hp2 NA19043.hp2	a0002 a0034 a0002 a0034	a0002c0013 a0034c0052 a0002c0013 a0034c0052	a0002c0013t0015 a0034c0052t0032 a0002c0013t0015 a0034c0052t0032	a0002c0013t0015g0024 a0034c0052t0032g0107 a0002c0013t0015g0024 a0034c0052t0032g0107	2	22	0.0909	-17	c.291 others(36): Show c.2912-2125_2912-2109delTTTTTTTTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	19/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4217172	ACACCCCC others(10): Show ACACCCCCCGGAGCACCC	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03453.hp2 NA19030.hp2 HG03195.hp1 HG03453.hp2 NA19030.hp2	a0005 a0033 a0005 a0033	a0005c0057 a0005c0058 a0033c0051 a0005c0057 a0005c0058 a0033c0051	a0005c0057t0013 a0005c0058t0012 a0033c0051t0062 a0005c0057t0013 a0005c0058t0012 a0033c0051t0062	a0005c0057t0013g0045 a0005c0058t0012g0063 a0033c0051t0062g0019 a0005c0057t0013g0045 a0005c0058t0012g0063 a0033c0051t0062g0019	3	113	0.0265	-17	c.554 others(36): Show c.5540-2936_5540-2920delCACCCCCCGGAGCACCC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	38/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	4217480	GCCACCCG others(10): Show GCCACCCGGAGCACCACA	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02735.hp1 HG03195.hp2 others(1): Show HG01978.hp1 HG02735.hp1 HG03195.hp2 NA20300.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0009 a0002c0090 a0003c0001 others(1): Show a0002c0009 a0002c0090 a0003c0001 a0004c0076	a0002c0009t0056 a0002c0090t0010 a0003c0001t0003 others(1): Show a0002c0009t0056 a0002c0090t0010 a0003c0001t0003 a0004c0076t0003	a0002c0009t0056g0044 a0002c0090t0010g0047 a0003c0001t0003g0037 others(1): Show a0002c0009t0056g0044 a0002c0090t0010g0047 a0003c0001t0003g0037 a0004c0076t0003g0073	4	104	0.0385	-17	c.554 others(36): Show c.5540-2579_5540-2563delCACCACCCGGAGCACCA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	38/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4217548	GCCACCCG others(10): Show GCCACCCGGAGAACCACA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0087 a0001c0087	a0001c0087t0009 a0001c0087t0009	a0001c0087t0009g0054 a0001c0087t0009g0054	1	116	0.0086	-17	c.554 others(36): Show c.5540-2550_5540-2534delAACCACACCACCCGGAG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	38/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4265060	GCCCAGCA others(10): Show GCCCAGCACGCTCCGGGC	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02738.hp2 HG02735.hp2 HG02738.hp2	a0001 a0001	a0001c0005 a0001c0039 a0001c0005 a0001c0039	a0001c0005t0051 a0001c0039t0050 a0001c0005t0051 a0001c0039t0050	a0001c0005t0051g0030 a0001c0039t0050g0022 a0001c0005t0051g0030 a0001c0039t0050g0022	2	116	0.0172	-17	c.638 others(32): Show c.6382-61_6382-45delCAGCACGCTCCGGGCCC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDR39U1_chr14_24434766_24447776	24443903	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02615.hp1 HG02818.hp1 others(4): Show HG02486.hp2 HG02615.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG03453.hp1 NA18906.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0009 a0002c0005t0002g0009	7	15	0.4667	-17	c.-11 others(28): Show c.-1151_-1135delAAAAAAAAAAAAAAAAA	SDR39U1	ENSG00000100445.18	transcript	ENST00000399395.8	protein_coding		1128		chr14	TogoVar
SDR42E2_chr16_22157506_22196751	22167165	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01106.hp1 HG01175.hp1 others(3): Show HG01074.hp2 HG01106.hp1 HG01175.hp1 HG01243.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0056 a0001c0001t0001g0065 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0066	6	145	0.0414	-17	c.336 others(32): Show c.336+188_336+204delTTTTTTTTTTTTTTTTT	SDR42E2	ENSG00000183921.8	transcript	ENST00000602312.3	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SEC11A_chr15_84664544_84721139	84700593	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00609.hp2 others(21): Show HG00438.hp2 HG00609.hp1 HG00609.hp2 HG02615.hp1 HG02698.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03098.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp2 NA18522.hp2 NA18955.hp2 NA18959.hp2 NA18967.hp1 NA18971.hp2 NA18984.hp1 NA19009.hp1 NA19074.hp2 NA19087.hp1 NA19087.hp2 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0001g0036 a0001c0001t0001g0080 others(20): Show a0001c0001t0001g0005 a0001c0001t0001g0036 a0001c0001t0001g0080 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0158 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0207 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0002g0026 a0001c0001t0003g0030	24	31	0.7742	-17	c.52- others(32): Show c.52-8966_52-8950delTTTTTTTTTTTTTTTTT	SEC11A	ENSG00000140612.14	transcript	ENST00000268220.12	protein_coding	1/5			chr15	TogoVar
SEC14L5_chr16_4953330_5024157	4980769	GAGGGTGT others(10): Show GAGGGTGTCCCGGGAAGA	G G	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0002 a0009c0013t0002	a0009c0013t0002g0264 a0009c0013t0002g0264	1	374	0.0027	-17	c.64- others(32): Show c.64-6784_64-6768delGTGTCCCGGGAAGAAGG	SEC14L5	ENSG00000103184.12	transcript	ENST00000251170.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
SEC14L5_chr16_4953330_5024157	4998737	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00423.hp2 others(72): Show HG00099.hp2 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01928.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02615.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp2 HG03017.hp1 HG03130.hp2 HG03209.hp2 HG03453.hp2 HG03490.hp2 HG03831.hp2 NA18747.hp2 NA18943.hp2 NA18947.hp2 NA18950.hp1 NA18967.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp2 NA18981.hp2 NA18983.hp2 NA18987.hp1 NA18990.hp2 NA18997.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp2 NA19063.hp1 NA19066.hp2 NA19067.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19087.hp1 NA20805.hp2	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0010	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0001c0012 a0001c0024 a0001c0026 a0003c0030 a0008c0023 a0010c0031	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0003t0003 a0001c0003t0037 a0001c0004t0012 a0001c0009t0011 a0001c0012t0039 a0001c0024t0003 a0001c0026t0043 a0003c0030t0003 a0008c0023t0003 a0010c0031t0003	a0001c0001t0001g0150 a0001c0001t0001g0278 a0001c0001t0001g0281 others(72): Show a0001c0001t0001g0150 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0288 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0351 a0001c0001t0001g0376 a0001c0001t0003g0054 a0001c0001t0003g0219 a0001c0001t0003g0307 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0326 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0336 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0001t0003g0342 a0001c0001t0004g0102 a0001c0001t0004g0279 a0001c0001t0004g0319 a0001c0001t0009g0115 a0001c0003t0003g0134 a0001c0003t0003g0139 a0001c0003t0003g0152 a0001c0003t0003g0153 a0001c0003t0003g0159 a0001c0003t0003g0265 a0001c0003t0003g0266 a0001c0003t0003g0269 a0001c0003t0003g0271 a0001c0003t0003g0274 a0001c0003t0003g0276 a0001c0003t0003g0282 a0001c0003t0003g0285 a0001c0003t0003g0286 a0001c0003t0003g0290 a0001c0003t0003g0291 a0001c0003t0003g0298 a0001c0003t0003g0299 a0001c0003t0003g0304 a0001c0003t0003g0313 a0001c0003t0003g0314 a0001c0003t0003g0315 a0001c0003t0003g0317 a0001c0003t0003g0318 a0001c0003t0003g0322 a0001c0003t0003g0324 a0001c0003t0003g0344 a0001c0003t0003g0373 a0001c0003t0003g0374 a0001c0003t0003g0375 a0001c0003t0037g0270 a0001c0004t0012g0113 a0001c0009t0011g0221 a0001c0009t0011g0305 a0001c0009t0011g0312 a0001c0012t0039g0109 a0001c0024t0003g0254 a0001c0026t0043g0280 a0003c0030t0003g0335 a0008c0023t0003g0337 a0010c0031t0003g0267	75	91	0.8242	-17	c.970 others(34): Show c.970+1706_970+1722delAAAAAAAAAAAAAAAAA	SEC14L5	ENSG00000103184.12	transcript	ENST00000251170.12	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
SEC22A_chr3_123196943_123279136	123260131	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18962.hp1 HG02132.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0197 a0001c0001t0013g0157 a0001c0001t0001g0197 a0001c0001t0013g0157	2	29	0.0690	-17	c.723 others(32): Show c.723+564_723+580delAAAAAAAAAAAAAAAAA	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC22C_chr3_42542969_42586967	42581855	ACGGCGGC others(10): Show ACGGCGGCCTTCGGAAGT	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02647.hp2 others(3): Show HG02258.hp2 HG02572.hp2 HG02647.hp2 HG02886.hp1 HG03041.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0041 a0001c0002t0008 a0001c0002t0041	a0001c0002t0008g0026 a0001c0002t0008g0245 a0001c0002t0008g0246 others(1): Show a0001c0002t0008g0026 a0001c0002t0008g0245 a0001c0002t0008g0246 a0001c0002t0041g0244	6	392	0.0153	-17	c.-54 others(24): Show c.-54_-38delACTTCCGAAGGCCGCCG	SEC22C	ENSG00000093183.14	transcript	ENST00000264454.8	protein_coding	1/7	12810		chr3	TogoVar
SEC23A_chr14_39026919_39108235	39059278	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02886.hp1 others(5): Show HG02630.hp2 HG02647.hp1 HG02886.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 NA19066.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 others(5): Show a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0003t0001g0154	8	118	0.0678	-17	c.150 others(36): Show c.1505+2470_1505+2486delTTTTTTTTTTTTTTTTT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	13/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39065997	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00423.hp1 others(65): Show HG00099.hp1 HG00323.hp1 HG00423.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01257.hp1 HG01433.hp1 HG01496.hp1 HG01975.hp1 HG02056.hp2 HG02155.hp1 HG02293.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp2 NA18948.hp1 NA18960.hp2 NA18963.hp2 NA18966.hp2 NA18968.hp2 NA18973.hp1 NA18977.hp1 NA18980.hp1 NA18990.hp2 NA18993.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19058.hp2 NA19064.hp1 NA19068.hp2 NA19090.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0025 others(63): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0104 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0004g0012 a0001c0001t0004g0158 a0001c0005t0001g0144 a0002c0002t0001g0314	68	160	0.4250	-17	c.122 others(36): Show c.1228-1021_1228-1005delTTTTTTTTTTTTTTTTT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	10/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39092847	ATTTGTTT others(10): Show ATTTGTTTGTTTGTTTGT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02886.hp1 others(3): Show HG02630.hp2 HG02647.hp1 HG02886.hp1 HG03041.hp2 HG03098.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 others(3): Show a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0349 a0001c0001t0001g0350	6	364	0.0165	-17	c.280 others(32): Show c.280-237_280-221delACAAACAAACAAACAAA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	3/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094425	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	364	0.0027	-17	c.222 others(34): Show c.222-1198_222-1182delTATATATATATATATAT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094426	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01257.hp1 NA18966.hp2 others(2): Show HG00642.hp2 HG01257.hp1 NA18966.hp2 NA18995.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0136 others(2): Show a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0141	5	348	0.0144	-17	c.222 others(34): Show c.222-1199_222-1183delATATATATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094428	ATATATAT others(10): Show ATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	336	0.0030	-17	c.222 others(34): Show c.222-1201_222-1185delAAATATATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094430	ATATATAT others(10): Show ATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	335	0.0030	-17	c.222 others(34): Show c.222-1203_222-1187delAAAAATATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094432	ATATATAT others(10): Show ATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG03098.hp1 others(1): Show HG02630.hp2 HG02647.hp1 HG03098.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0296 a0001c0001t0001g0349 others(1): Show a0001c0001t0001g0265 a0001c0001t0001g0296 a0001c0001t0001g0349 a0001c0001t0001g0350	4	311	0.0129	-17	c.222 others(34): Show c.222-1205_222-1189delAAAAAAATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC24B_chr4_109428815_109545896	109439474	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01255.hp1 others(15): Show HG00642.hp2 HG00735.hp1 HG01255.hp1 HG01258.hp2 HG01361.hp1 HG02647.hp1 HG03195.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03834.hp2 HG04115.hp2 NA18948.hp2 NA18960.hp2 NA18979.hp2 NA19240.hp1 NA20752.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0003c0007 others(1): Show a0001c0001 a0001c0002 a0003c0007 a0007c0013	a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 others(3): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0015 a0003c0007t0003 a0007c0013t0003	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0216 others(15): Show a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0216 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0111 a0001c0002t0004g0097 a0001c0002t0004g0098 a0001c0002t0004g0099 a0001c0002t0004g0101 a0001c0002t0004g0102 a0001c0002t0004g0103 a0001c0002t0004g0104 a0001c0002t0004g0105 a0001c0002t0015g0100 a0003c0007t0003g0213 a0003c0007t0003g0214 a0007c0013t0003g0212	18	40	0.4500	-17	c.133 others(34): Show c.133+5501_133+5517delTTTTTTTTTTTTTTTTT	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar

Search by Variant

Search

Search Results