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
SEC24D_chr4_118717823_118841126	118751176	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01192.hp1 others(19): Show HG01081.hp1 HG01081.hp2 HG01192.hp1 HG01258.hp2 HG01358.hp1 HG01934.hp1 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02074.hp2 HG02523.hp1 HG03831.hp1 NA18940.hp2 NA18977.hp1 NA18978.hp1 NA18982.hp2 NA18985.hp2 NA19070.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp2 homoSapiens_chm13v2.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0001c0002 a0015c0017 a0001c0001 a0001c0002 a0015c0017	a0001c0001t0001 a0001c0002t0001 a0015c0017t0001 a0001c0001t0001 a0001c0002t0001 a0015c0017t0001	a0001c0001t0001g0014 a0001c0001t0001g0035 a0001c0002t0001g0062 others(19): Show a0001c0001t0001g0014 a0001c0001t0001g0035 a0001c0002t0001g0062 a0001c0002t0001g0070 a0001c0002t0001g0074 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0002t0001g0116 a0001c0002t0001g0127 a0001c0002t0001g0138 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0163 a0001c0002t0001g0165 a0001c0002t0001g0278 a0015c0017t0001g0119	22	300	0.0733	11	c.170 others(28): Show c.1707+809_1707+819dupAAAAAAAAAAA	SEC24D	ENSG00000150961.15	transcript	ENST00000280551.11	protein_coding	13/22			chr4	TogoVar
SEC61A2_chr10_12124677_12170407	12127557	G G	GCCCCCCC others(4): Show GCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 NA18985.hp2 NA18989.hp2 HG00544.hp2 NA18985.hp2 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0180 a0001c0002t0001g0203 a0001c0002t0005g0037 a0001c0002t0001g0180 a0001c0002t0001g0203 a0001c0002t0005g0037	3	360	0.0083	11	c.-22 others(22): Show c.-2231_-2230insCCCCCCCCCCC	SEC61A2	ENSG00000065665.21	transcript	ENST00000298428.14	protein_coding		2119		chr10	TogoVar
SEC61G_chr7_54747253_54764211	54760999	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(33): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01168.hp2 HG01169.hp1 HG01516.hp2 HG01517.hp1 HG01978.hp2 HG02040.hp2 HG02071.hp2 HG02083.hp1 HG02300.hp1 HG02615.hp2 HG02683.hp2 HG02896.hp2 HG03225.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG04184.hp2 HG04204.hp2 NA18942.hp2 NA18947.hp1 NA18972.hp2 NA18974.hp1 NA19002.hp1 NA19010.hp2 NA19043.hp1 NA19055.hp1 NA19062.hp1 NA19082.hp2 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0013 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0042 a0001c0002t0001g0021	36	406	0.0887	11	c.-18 others(22): Show c.-1849_-1848insTTTTTTTTTTT	SEC61G	ENSG00000132432.14	transcript	ENST00000352861.9	protein_coding		1789		chr7	TogoVar
SECISBP2_chr9_89313500_89364663	89336081	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	380	0.0026	11	c.108 others(30): Show c.1089+1368_1089+1378dupTTTTTTTTTTT	SECISBP2	ENSG00000187742.15	transcript	ENST00000375807.8	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
SECTM1_chr17_82316024_82338766	82329611	G G	GGCCCCAT others(4): Show GGCCCCATCTCC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0116 a0002c0003t0003g0116	1	374	0.0027	11	c.-52 others(28): Show c.-52-2330_-52-2320dupGGAGATGGGGC	SECTM1	ENSG00000141574.8	transcript	ENST00000269389.8	protein_coding	1/4			chr17	TogoVar
SECTM1_chr17_82316024_82338766	82334759	A A	AGAGGTGC others(4): Show AGAGGTGCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	374	0.0027	11	c.-11 others(22): Show c.-1113_-1112insCAGAGCACCTC	SECTM1	ENSG00000141574.8	transcript	ENST00000269389.8	protein_coding		994		chr17	TogoVar
SEH1L_chr18_12943011_12992531	12949442	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	388	0.0026	11	c.111 others(28): Show c.111+1228_111+1238dupTTTTTTTTTTT	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEH1L_chr18_12943011_12992531	12962459	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0350 a0001c0004t0001g0350	1	388	0.0026	11	c.310 others(26): Show c.310-685_310-675dupTTTTTTTTTTT	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEH1L_chr18_12943011_12992531	12981850	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0338 a0001c0001t0006g0338	1	388	0.0026	11	c.762 others(26): Show c.762-651_762-641dupTTTTTTTTTTT	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEL1L2_chr20_13844247_13995614	13848382	A A	AGTCAAAT others(4): Show AGTCAAATATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	324	0.0031	11	c.11 others(22): Show c.1102_*1103insAGATATTTGAC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		864		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13907747	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp2 HG00140.hp2 HG01109.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0003 a0001c0001t0001 a0006c0008t0003	a0001c0001t0001g0256 a0006c0008t0003g0229 a0001c0001t0001g0256 a0006c0008t0003g0229	2	324	0.0062	11	c.549 others(28): Show c.549+6034_549+6035insGAAAGAAAGAA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	5/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934390	T T	TATATATA others(4): Show TATATATATTCC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	324	0.0031	11	c.115 others(28): Show c.115-2620_115-2619insGGAATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13939040	G G	GGTTTTTT others(4): Show GGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0011 a0003c0005t0002g0011	1	324	0.0031	11	c.115 others(28): Show c.115-7270_115-7269insAAAAAAAAAAC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L3_chr4_25742433_25867988	25744348	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01074.hp1 HG01169.hp1 others(14): Show HG00558.hp2 HG01074.hp1 HG01169.hp1 HG01891.hp1 HG02055.hp2 HG02257.hp2 HG02683.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG03017.hp1 HG03540.hp2 HG03669.hp1 HG03704.hp2 HG04228.hp2 NA20905.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0013	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0005c0019 a0005c0022 a0013c0020	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(5): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0003t0002 a0002c0002t0008 a0005c0019t0002 a0005c0022t0004 a0013c0020t0002	a0001c0001t0002g0031 a0001c0001t0002g0054 a0001c0001t0002g0071 others(14): Show a0001c0001t0002g0031 a0001c0001t0002g0054 a0001c0001t0002g0071 a0001c0001t0002g0131 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0190 a0001c0001t0002g0208 a0001c0001t0002g0260 a0001c0001t0008g0114 a0001c0001t0009g0285 a0001c0003t0002g0025 a0001c0003t0002g0103 a0002c0002t0008g0301 a0005c0019t0002g0010 a0005c0022t0004g0284 a0013c0020t0002g0011	17	312	0.0545	11	c.40 others(22): Show c.4076_*4077insAAAAAAAAAAA	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding		3084		chr4	TogoVar
SEL1L_chr14_81466547_81538853	81477336	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0135 a0001c0001t0006g0135	1	360	0.0028	11	c.217 others(28): Show c.2176-156_2176-155insCACACACACAC	SEL1L	ENSG00000071537.14	transcript	ENST00000336735.9	protein_coding	20/20			chr14	TogoVar
SELENOI_chr2_26341143_26400885	26381198	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0276 a0001c0001t0013g0276	1	334	0.0030	11	c.683 others(28): Show c.683-2080_683-2070dupTTTTTTTTTTT	SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SELENOI_chr2_26341143_26400885	26398037	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA19088.hp1 NA18747.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0132 a0001c0002t0001g0001 a0001c0002t0001g0132	2	334	0.0060	11	c.89 others(22): Show c.8934_*8935insTTTTTTTTTTT	SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding		2153		chr2	TogoVar
SELENOT_chr3_150598321_150635436	150617838	T T	TTGTTTGG others(4): Show TTGTTTGGTTTG	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	380	0.0026	11	c.138 others(28): Show c.138-4547_138-4546insTGTTTGGTTTG	SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding	1/5			chr3	TogoVar
SELENOT_chr3_150598321_150635436	150631202	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02735.hp1 others(2): Show HG01243.hp2 HG01884.hp2 HG02735.hp1 HG06807.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0205 a0001c0001t0004g0007 a0001c0001t0004g0035 others(2): Show a0001c0001t0002g0205 a0001c0001t0004g0007 a0001c0001t0004g0035 a0001c0001t0004g0145 a0001c0001t0004g0146	5	380	0.0132	11	c.35 others(22): Show c.3573_*3574insAAAAAAAAAAA	SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding		767		chr3	TogoVar
SELENOV_chr19_39510139_39525675	39517964	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01175.hp1 HG01175.hp2 others(14): Show HG00738.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01258.hp1 HG01516.hp2 HG01884.hp1 HG02055.hp2 HG02559.hp2 HG03098.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03927.hp2 HG04228.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0010 a0001c0001t0001g0073 a0001c0001t0001g0088 others(8): Show a0001c0001t0001g0010 a0001c0001t0001g0073 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0148 a0001c0001t0001g0186 a0001c0001t0001g0213 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0002t0002g0043 a0001c0002t0002g0120	17	436	0.0390	11	c.810 others(26): Show c.810-627_810-617dupAAAAAAAAAAA	SELENOV	ENSG00000186838.15	transcript	ENST00000335426.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
SELENOV_chr19_39510139_39525675	39517991	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01975.hp1 HG02109.hp2 others(10): Show HG01517.hp1 HG01975.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02451.hp1 HG02735.hp1 HG02818.hp2 HG02922.hp1 HG02970.hp2 HG03209.hp1 HG06807.hp1 NA18976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0001 a0001c0002t0008	a0001c0002t0001g0008 a0001c0002t0001g0050 a0001c0002t0001g0095 others(3): Show a0001c0002t0001g0008 a0001c0002t0001g0050 a0001c0002t0001g0095 a0001c0002t0001g0197 a0001c0002t0001g0224 a0001c0002t0008g0191	13	436	0.0298	11	c.810 others(26): Show c.810-617_810-616insAAAAAAAAAAG	SELENOV	ENSG00000186838.15	transcript	ENST00000335426.9	protein_coding	1/5			chr19	TogoVar
SELPLG_chr12_108616895_108638894	108635419	G G	GGATCTCT others(4): Show GGATCTCTTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	486	0.0021	11	c.-16 others(22): Show c.-1686_-1685insTAAAAGAGATC	SELPLG	ENSG00000110876.10	transcript	ENST00000550948.2	protein_coding		1526		chr12	TogoVar
SELP_chr1_169583849_169635124	169587561	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0017 a0017	a0017c0037 a0017c0037	a0017c0037t0002 a0017c0037t0002	a0017c0037t0002g0215 a0017c0037t0002g0215	1	326	0.0031	11	c.19 others(22): Show c.1901_*1902insTTTTTTTTTTT	SELP	ENSG00000174175.17	transcript	ENST00000263686.11	protein_coding		1287		chr1	TogoVar
SEMA3A_chr7_83950777_84199789	83965664	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0088 a0001c0003t0014g0088	1	276	0.0036	11	c.171 others(30): Show c.1718-2318_1718-2317insAAAAAAAAAAA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965666	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG04199.hp2 NA18951.hp1 HG01243.hp1 HG04199.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0029 a0001c0002t0002 a0001c0003t0014 a0001c0001t0029 a0001c0002t0002 a0001c0003t0014	a0001c0001t0029g0025 a0001c0002t0002g0058 a0001c0003t0014g0220 a0001c0001t0029g0025 a0001c0002t0002g0058 a0001c0003t0014g0220	3	276	0.0109	11	c.171 others(30): Show c.1718-2320_1718-2319insATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965666	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01517.hp2 HG03710.hp2 others(1): Show HG01258.hp2 HG01517.hp2 HG03710.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0001t0001 a0001c0001t0003 a0001c0001t0018	a0001c0001t0001g0143 a0001c0001t0003g0090 a0001c0001t0003g0101 others(1): Show a0001c0001t0001g0143 a0001c0001t0003g0090 a0001c0001t0003g0101 a0001c0001t0018g0121	4	276	0.0145	11	c.171 others(30): Show c.1718-2320_1718-2319insAAATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965666	A A	ATATATAT others(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03239.hp2 NA18945.hp2 others(2): Show HG01099.hp1 HG03239.hp2 NA18945.hp2 NA18969.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0005t0001	a0001c0001t0001g0260 a0001c0001t0003g0105 a0001c0002t0002g0022 others(2): Show a0001c0001t0001g0260 a0001c0001t0003g0105 a0001c0002t0002g0022 a0001c0005t0001g0019 a0001c0005t0001g0164	5	276	0.0181	11	c.171 others(30): Show c.1718-2320_1718-2319insAAAAATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965666	A A	ATATATTT others(4): Show ATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	276	0.0036	11	c.171 others(30): Show c.1718-2320_1718-2319insAAAAAAATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83980612	A A	AAACAAAC others(4): Show AAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0212 a0001c0001t0024g0212	1	276	0.0036	11	c.165 others(28): Show c.1652+708_1652+709insGTTTGTTTGTT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	14/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83980623	A A	AAATATAT others(4): Show AAATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG06807.hp2 HG00639.hp1 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0156 a0001c0003t0006g0219 a0001c0003t0006g0156 a0001c0003t0006g0219	2	276	0.0073	11	c.165 others(28): Show c.1652+697_1652+698insATATATATATT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	14/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83980623	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0163 a0001c0003t0006g0163	1	276	0.0036	11	c.165 others(28): Show c.1652+697_1652+698insATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	14/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84082495	A A	AAATTCTT others(4): Show AAATTCTTTATT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	276	0.0036	11	c.454 others(30): Show c.454-21948_454-21938dupAATAAAGAATT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80746718	G G	GTGTGTGT others(4): Show GTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0125	1	244	0.0041	11	c.184 others(30): Show c.1843-1412_1843-1411insACACACACACA	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	17/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80815554	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0175 a0001c0002t0001g0175	1	244	0.0041	11	c.447 others(28): Show c.447+2734_447+2744dupTTTTTTTTTTT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	5/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80851504	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03195.hp2 HG02572.hp1 HG03195.hp2	a0001 a0001	a0001c0007 a0001c0025 a0001c0007 a0001c0025	a0001c0007t0003 a0001c0025t0003 a0001c0007t0003 a0001c0025t0003	a0001c0007t0003g0056 a0001c0025t0003g0063 a0001c0007t0003g0056 a0001c0025t0003g0063	2	244	0.0082	11	c.104 others(30): Show c.104-22770_104-22760dupTTTTTTTTTTT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85168805	A A	AGAAAGAA others(4): Show AGAAAGAAAGAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0034 a0002c0003t0034	a0002c0003t0034g0241 a0002c0003t0034g0241	1	266	0.0038	11	c.-17 others(32): Show c.-172-15067_-172-15066insATCTTTCTTTC	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	1/18			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85181347	C C	CACACACA others(4): Show CACACACACACA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	266	0.0038	11	c.-17 others(30): Show c.-173+5320_-173+5330dupTGTGTGTGTGT	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	1/18			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83539896	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01346.hp2 HG02145.hp1 HG00597.hp1 HG01346.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0019 a0001c0002t0014 a0001c0001t0009 a0001c0001t0019 a0001c0002t0014	a0001c0001t0009g0136 a0001c0001t0019g0165 a0001c0002t0014g0125 a0001c0001t0009g0136 a0001c0001t0019g0165 a0001c0002t0014g0125	3	226	0.0133	11	c.116 others(30): Show c.116-49623_116-49622insCACACACACAC	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83617497	T T	TAATTTTA others(4): Show TAATTTTATATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG00735.hp2 others(15): Show HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01884.hp1 HG01928.hp1 HG02055.hp1 HG02148.hp2 HG02630.hp2 HG02897.hp2 NA18522.hp2 NA18906.hp1 NA18951.hp2 NA18961.hp1 NA18983.hp2 NA18995.hp1 NA19043.hp2 NA19074.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0002c0004 a0003c0007 a0003c0009	a0001c0001t0024 a0001c0001t0037 a0001c0001t0038 others(11): Show a0001c0001t0024 a0001c0001t0037 a0001c0001t0038 a0001c0001t0098 a0001c0002t0072 a0001c0003t0001 a0001c0003t0002 a0001c0003t0020 a0001c0003t0079 a0001c0005t0039 a0001c0008t0015 a0002c0004t0032 a0003c0007t0036 a0003c0009t0066	a0001c0001t0024g0004 a0001c0001t0037g0003 a0001c0001t0038g0006 others(15): Show a0001c0001t0024g0004 a0001c0001t0037g0003 a0001c0001t0038g0006 a0001c0001t0098g0215 a0001c0002t0072g0083 a0001c0003t0001g0077 a0001c0003t0001g0079 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0002g0080 a0001c0003t0002g0086 a0001c0003t0020g0081 a0001c0003t0079g0076 a0001c0005t0039g0002 a0001c0008t0015g0185 a0002c0004t0032g0181 a0003c0007t0036g0007 a0003c0009t0066g0067	18	226	0.0797	11	c.115 others(30): Show c.115+30920_115+30930dupTATATAAAATT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83617510	A A	ATTTTATA others(4): Show ATTTTATATAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(127): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02257.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18939.hp2 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18953.hp2 NA18954.hp2 NA18963.hp1 NA18983.hp1 NA18984.hp1 NA19004.hp1 NA19004.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19058.hp1 NA19060.hp1 NA19074.hp2 NA19077.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0001c0015 a0002c0004 a0003c0007 a0004c0016 a0005c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(80): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0031 a0001c0001t0035 a0001c0001t0046 a0001c0001t0051 a0001c0001t0052 a0001c0001t0063 a0001c0001t0064 a0001c0001t0067 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0093 a0001c0001t0097 a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0014 a0001c0002t0016 a0001c0002t0026 a0001c0002t0027 a0001c0002t0032 a0001c0002t0034 a0001c0002t0040 a0001c0002t0044 a0001c0002t0045 a0001c0002t0050 a0001c0002t0057 a0001c0002t0080 a0001c0002t0084 a0001c0002t0095 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0010 a0001c0003t0016 a0001c0003t0020 a0001c0003t0027 a0001c0003t0033 a0001c0003t0048 a0001c0005t0006 a0001c0005t0013 a0001c0005t0015 a0001c0005t0021 a0001c0005t0028 a0001c0005t0086 a0001c0005t0087 a0001c0006t0042 a0001c0006t0043 a0001c0006t0053 a0001c0006t0055 a0001c0006t0082 a0001c0008t0054 a0001c0008t0065 a0001c0011t0033 a0001c0015t0005 a0002c0004t0003 a0002c0004t0005 a0002c0004t0007 a0002c0004t0010 a0002c0004t0012 a0002c0004t0018 a0002c0004t0031 a0002c0004t0074 a0002c0004t0085 a0002c0004t0089 a0002c0004t0091 a0002c0004t0096 a0002c0004t0101 a0003c0007t0017 a0003c0007t0025 a0004c0016t0005 a0005c0013t0012	a0001c0001t0001g0088 a0001c0001t0004g0182 a0001c0001t0005g0032 others(127): Show a0001c0001t0001g0088 a0001c0001t0004g0182 a0001c0001t0005g0032 a0001c0001t0009g0092 a0001c0001t0017g0012 a0001c0001t0022g0177 a0001c0001t0022g0199 a0001c0001t0022g0200 a0001c0001t0023g0186 a0001c0001t0023g0187 a0001c0001t0023g0191 a0001c0001t0024g0005 a0001c0001t0029g0172 a0001c0001t0031g0192 a0001c0001t0035g0001 a0001c0001t0046g0034 a0001c0001t0051g0046 a0001c0001t0052g0050 a0001c0001t0063g0065 a0001c0001t0064g0064 a0001c0001t0067g0066 a0001c0001t0076g0158 a0001c0001t0077g0153 a0001c0001t0078g0170 a0001c0001t0093g0183 a0001c0001t0097g0226 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0159 a0001c0002t0005g0021 a0001c0002t0005g0030 a0001c0002t0008g0089 a0001c0002t0010g0207 a0001c0002t0011g0017 a0001c0002t0011g0018 a0001c0002t0011g0024 a0001c0002t0011g0038 a0001c0002t0014g0087 a0001c0002t0016g0218 a0001c0002t0026g0019 a0001c0002t0026g0035 a0001c0002t0027g0014 a0001c0002t0032g0188 a0001c0002t0034g0213 a0001c0002t0034g0224 a0001c0002t0040g0008 a0001c0002t0044g0013 a0001c0002t0045g0026 a0001c0002t0050g0020 a0001c0002t0057g0053 a0001c0002t0080g0094 a0001c0002t0084g0161 a0001c0002t0095g0217 a0001c0003t0001g0082 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0002g0078 a0001c0003t0002g0096 a0001c0003t0002g0152 a0001c0003t0002g0155 a0001c0003t0004g0193 a0001c0003t0004g0194 a0001c0003t0004g0195 a0001c0003t0004g0196 a0001c0003t0004g0197 a0001c0003t0004g0198 a0001c0003t0010g0208 a0001c0003t0010g0222 a0001c0003t0016g0210 a0001c0003t0020g0075 a0001c0003t0027g0025 a0001c0003t0033g0184 a0001c0003t0048g0031 a0001c0005t0006g0042 a0001c0005t0006g0043 a0001c0005t0006g0044 a0001c0005t0006g0045 a0001c0005t0006g0048 a0001c0005t0006g0049 a0001c0005t0013g0052 a0001c0005t0013g0054 a0001c0005t0013g0055 a0001c0005t0013g0057 a0001c0005t0015g0180 a0001c0005t0015g0201 a0001c0005t0015g0202 a0001c0005t0021g0074 a0001c0005t0021g0157 a0001c0005t0028g0069 a0001c0005t0028g0070 a0001c0005t0086g0154 a0001c0005t0087g0156 a0001c0006t0042g0010 a0001c0006t0043g0011 a0001c0006t0053g0047 a0001c0006t0055g0056 a0001c0006t0082g0167 a0001c0008t0054g0051 a0001c0008t0065g0071 a0001c0011t0033g0190 a0001c0015t0005g0027 a0002c0004t0003g0090 a0002c0004t0003g0160 a0002c0004t0005g0033 a0002c0004t0007g0206 a0002c0004t0007g0211 a0002c0004t0007g0214 a0002c0004t0007g0219 a0002c0004t0007g0220 a0002c0004t0007g0223 a0002c0004t0010g0205 a0002c0004t0010g0225 a0002c0004t0012g0028 a0002c0004t0012g0036 a0002c0004t0012g0039 a0002c0004t0018g0168 a0002c0004t0018g0169 a0002c0004t0018g0171 a0002c0004t0031g0178 a0002c0004t0074g0162 a0002c0004t0085g0095 a0002c0004t0089g0179 a0002c0004t0091g0189 a0002c0004t0096g0212 a0002c0004t0101g0221 a0003c0007t0017g0041 a0003c0007t0025g0029 a0003c0007t0025g0037 a0004c0016t0005g0022 a0005c0013t0012g0023	130	226	0.5752	11	c.115 others(30): Show c.115+30917_115+30918insCTTATATAAAA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83639110	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01261.hp1 others(7): Show HG01069.hp1 HG01071.hp1 HG01261.hp1 HG01515.hp1 HG02976.hp1 HG03098.hp2 HG03239.hp1 HG03486.hp1 NA19060.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0003c0009	a0001c0001t0003 a0001c0001t0008 a0001c0001t0030 others(7): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0030 a0001c0001t0070 a0001c0003t0001 a0001c0003t0002 a0001c0003t0081 a0001c0005t0021 a0001c0005t0028 a0003c0009t0092	a0001c0001t0003g0130 a0001c0001t0008g0142 a0001c0001t0030g0143 others(7): Show a0001c0001t0003g0130 a0001c0001t0008g0142 a0001c0001t0030g0143 a0001c0001t0070g0073 a0001c0003t0001g0099 a0001c0003t0002g0128 a0001c0003t0081g0129 a0001c0005t0021g0074 a0001c0005t0028g0070 a0003c0009t0092g0175	10	226	0.0443	11	c.115 others(28): Show c.115+9307_115+9317dupTTTTTTTTTTT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA4A_chr1_156148585_156182744	156161683	C C	CTTTTTGT others(4): Show CTTTTTGTAAAT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19068.hp1 NA19077.hp1 NA19012.hp2 NA19068.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270	3	374	0.0080	11	c.983 others(26): Show c.983+166_983+176dupTTTTTGTAAAT	SEMA4A	ENSG00000196189.14	transcript	ENST00000368285.8	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA4C_chr2_96854718_96875080	96872359	C C	CAAACAAA others(4): Show CAAACAAACAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG02723.hp2 others(2): Show HG01891.hp1 HG02280.hp1 HG02723.hp2 HG03098.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0018	5	350	0.0143	11	c.-25 others(22): Show c.-2522_-2521insTTTGTTTGTTT	SEMA4C	ENSG00000168758.11	transcript	ENST00000305476.10	protein_coding		2280		chr2	TogoVar
SEMA4D_chr9_89372235_89503113	89450659	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02132.hp2 HG02165.hp1 others(13): Show HG00558.hp1 HG02132.hp2 HG02165.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp2 HG03017.hp2 NA18941.hp1 NA18942.hp1 NA18951.hp2 NA18964.hp2 NA18983.hp2 NA19003.hp2 NA19054.hp1 NA19057.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0002c0002t0002 a0002c0002t0014 a0001c0001t0011 a0002c0002t0002 a0002c0002t0014	a0001c0001t0011g0324 a0002c0002t0002g0295 a0002c0002t0002g0296 others(13): Show a0001c0001t0011g0324 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0315 a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0327 a0002c0002t0002g0333 a0002c0002t0002g0343 a0002c0002t0002g0345 a0002c0002t0002g0359 a0002c0002t0002g0362 a0002c0002t0002g0367 a0002c0002t0002g0368 a0002c0002t0014g0332 a0002c0002t0014g0365	16	370	0.0432	11	c.-24 others(30): Show c.-244+5228_-244+5229insTTTTTTTTTTT	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89461700	C C	CTCTCTTT others(4): Show CTCTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02976.hp1 HG02818.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0003t0002 a0001c0001t0010 a0001c0003t0002	a0001c0001t0010g0091 a0001c0003t0002g0286 a0001c0001t0010g0091 a0001c0003t0002g0286	2	370	0.0054	11	c.-30 others(30): Show c.-309-5748_-309-5747insAAAAAAAGAGA	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89461700	C C	CTCTTTTT others(4): Show CTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(57): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00544.hp1 HG00558.hp1 HG01099.hp1 HG01175.hp1 HG01192.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02300.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02683.hp2 HG02735.hp2 HG02818.hp1 HG03017.hp2 HG03486.hp1 HG03579.hp2 HG03688.hp1 HG03834.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18951.hp2 NA18952.hp2 NA18956.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18983.hp2 NA18989.hp2 NA18991.hp1 NA19003.hp2 NA19004.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19063.hp1 NA19065.hp2 NA19068.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19087.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0013 a0002c0002 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0027 a0001c0001t0046 a0001c0003t0002 a0001c0003t0009 a0001c0003t0042 a0001c0004t0004 a0001c0004t0026 a0001c0004t0049 a0001c0013t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0014 a0002c0002t0030 a0002c0014t0002	a0001c0001t0001g0104 a0001c0001t0002g0325 a0001c0001t0002g0350 others(57): Show a0001c0001t0001g0104 a0001c0001t0002g0325 a0001c0001t0002g0350 a0001c0001t0011g0292 a0001c0001t0011g0348 a0001c0001t0011g0349 a0001c0001t0012g0322 a0001c0001t0012g0352 a0001c0001t0014g0289 a0001c0001t0014g0290 a0001c0001t0014g0294 a0001c0001t0027g0001 a0001c0001t0046g0300 a0001c0003t0002g0323 a0001c0003t0009g0285 a0001c0003t0042g0334 a0001c0004t0004g0046 a0001c0004t0004g0178 a0001c0004t0026g0338 a0001c0004t0026g0342 a0001c0004t0049g0370 a0001c0013t0004g0230 a0002c0002t0001g0085 a0002c0002t0001g0260 a0002c0002t0002g0288 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0307 a0002c0002t0002g0309 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0320 a0002c0002t0002g0326 a0002c0002t0002g0327 a0002c0002t0002g0329 a0002c0002t0002g0330 a0002c0002t0002g0333 a0002c0002t0002g0337 a0002c0002t0002g0340 a0002c0002t0002g0343 a0002c0002t0002g0347 a0002c0002t0002g0356 a0002c0002t0002g0359 a0002c0002t0002g0362 a0002c0002t0002g0363 a0002c0002t0002g0364 a0002c0002t0002g0367 a0002c0002t0002g0368 a0002c0002t0014g0332 a0002c0002t0014g0365 a0002c0002t0030g0006 a0002c0014t0002g0354	60	370	0.1622	11	c.-30 others(30): Show c.-309-5748_-309-5747insAAAAAAAAAGA	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89461700	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	370	0.0027	11	c.-30 others(30): Show c.-309-5758_-309-5748dupAAAAAAAAAAA	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA5A_chr5_9030033_9551075	9030715	A A	AGTCAACT others(4): Show AGTCAACTGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0092 a0001c0001t0015g0093 a0001c0001t0015g0092 a0001c0001t0015g0093	2	134	0.0149	11	c.12 others(24): Show c.12181_*12182insATGCAGTTGAC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding		4317		chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9109027	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0048 a0001c0003t0010g0048	1	134	0.0075	11	c.192 others(28): Show c.1926-741_1926-740insAAAAAAAAAAA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	15/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9109028	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0024 a0001c0006t0001g0024	1	134	0.0075	11	c.192 others(28): Show c.1926-752_1926-742dupAAAAAAAAAAA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	15/22			chr5	TogoVar

Search by Variant

Search

Search Results