Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RBL1_chr20_36991349_37100997	37002336	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01261.hp2 HG02056.hp2 others(6): Show HG01175.hp1 HG01261.hp2 HG02056.hp2 HG02135.hp2 HG03927.hp1 NA18986.hp2 NA19011.hp2 NA19012.hp1 NA19088.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0002 a0007c0008t0002 a0001c0001t0002 a0007c0008t0002	a0001c0001t0002g0272 a0001c0001t0002g0286 a0001c0001t0002g0298 others(6): Show a0001c0001t0002g0272 a0001c0001t0002g0286 a0001c0001t0002g0298 a0001c0001t0002g0303 a0001c0001t0002g0328 a0001c0001t0002g0330 a0001c0001t0002g0335 a0001c0001t0002g0352 a0007c0008t0002g0275	9	354	0.0254	25	c.303 others(44): Show c.3036+1365_3036+1366insAAAAAAAAAAAAAAAAAAAAAAAAA	RBL1	ENSG00000080839.12	transcript	ENST00000373664.8	protein_coding	21/21			chr20	TogoVar
RBL2_chr16_53429471_53496648	53457258	C C	CCTTTTTT others(18): Show CCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01496.hp1 HG02896.hp1 others(4): Show HG01074.hp1 HG01496.hp1 HG02896.hp1 HG02897.hp2 HG03139.hp1 HG03491.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0003 a0002c0004t0003 a0001c0003t0003 a0002c0004t0003	a0001c0003t0003g0129 a0001c0003t0003g0130 a0001c0003t0003g0133 others(4): Show a0001c0003t0003g0129 a0001c0003t0003g0130 a0001c0003t0003g0133 a0002c0004t0003g0185 a0002c0004t0003g0190 a0002c0004t0003g0193 a0002c0004t0003g0196	7	276	0.0254	25	c.118 others(44): Show c.1180-2193_1180-2192insCTTTTTTTTTTTTTTTTTTTTTTTT	RBL2	ENSG00000103479.17	transcript	ENST00000262133.11	protein_coding	8/21			chr16	TogoVar
RBM10_chrX_47140221_47191813	47173902	T T	TCTCTCTC others(18): Show TCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	226	0.0044	25	c.502 others(40): Show c.502+706_502+730dupCTCTCTCTCTCTCTCTCTCTCTCTC	RBM10	ENSG00000182872.16	transcript	ENST00000377604.8	protein_coding	5/23		INFO_REALIGN_3_PRIME	chrX	TogoVar
RBM20_chr10_110639336_110844468	110737177	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18983.hp2 NA20129.hp1 HG03654.hp1 NA18983.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0250 a0001c0001t0002g0129 a0001c0001t0004g0064 a0001c0001t0001g0250 a0001c0001t0002g0129 a0001c0001t0004g0064	3	268	0.0112	25	c.192 others(44): Show c.192-43604_192-43603insAAAAAAAAAAAAAAAAAAAAAAAAA	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
RBM20_chr10_110639336_110844468	110809218	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00735.hp1 HG01071.hp1 others(18): Show HG00609.hp1 HG00735.hp1 HG01071.hp1 HG01261.hp1 HG01346.hp1 HG01517.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp2 HG02135.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG03130.hp2 HG03209.hp1 HG03486.hp2 NA18948.hp1 NA18960.hp1 NA18970.hp1 NA19084.hp1 NA20905.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0010c0022	a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 a0001c0003t0001 a0002c0002t0003 a0010c0022t0001	a0001c0001t0001g0074 a0001c0001t0001g0091 a0001c0001t0001g0131 others(18): Show a0001c0001t0001g0074 a0001c0001t0001g0091 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0010g0216 a0001c0001t0013g0089 a0001c0003t0001g0010 a0001c0003t0001g0049 a0001c0003t0001g0058 a0001c0003t0001g0266 a0002c0002t0003g0174 a0010c0022t0001g0206	21	268	0.0784	25	c.180 others(44): Show c.1801-1151_1801-1150insAAAAAAAAAAAAAAAAAAAAAAAAA	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
RBM23_chr14_22888204_22924149	22910151	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0138 a0002c0002t0001g0138	1	362	0.0028	25	c.67- others(38): Show c.67-581_67-557dupTTTTTTTTTTTTTTTTTTTTTTTTT	RBM23	ENSG00000100461.18	transcript	ENST00000359890.8	protein_coding	2/13			chr14	TogoVar
RBM26_chr13_79313868_79411255	79367406	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG03710.hp2 HG01071.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0219 a0001c0002t0003g0238 a0001c0002t0003g0219 a0001c0002t0003g0238	2	328	0.0061	25	c.896 others(40): Show c.896-559_896-535dupTTTTTTTTTTTTTTTTTTTTTTTTT	RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	6/21			chr13	TogoVar
RBM26_chr13_79313868_79411255	79375081	T T	TATATATA others(18): Show TATATATAAATATATATTTATATATC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp2 others(94): Show HG00099.hp1 HG00323.hp1 HG00408.hp2 HG00544.hp2 HG00733.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02647.hp1 HG02698.hp2 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18948.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp2 NA18965.hp1 NA18969.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18982.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18991.hp2 NA18995.hp2 NA19054.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19085.hp2 NA19086.hp2 NA19090.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0004 a0003c0010 a0001c0002 a0001c0004 a0003c0010	a0001c0002t0001 a0001c0002t0003 a0001c0002t0019 others(5): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0019 a0001c0002t0021 a0001c0002t0022 a0001c0002t0026 a0001c0004t0003 a0003c0010t0001	a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 others(91): Show a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0174 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0205 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0262 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0003g0173 a0001c0002t0003g0196 a0001c0002t0003g0200 a0001c0002t0003g0211 a0001c0002t0003g0219 a0001c0002t0003g0222 a0001c0002t0003g0223 a0001c0002t0003g0238 a0001c0002t0003g0263 a0001c0002t0003g0269 a0001c0002t0003g0271 a0001c0002t0019g0175 a0001c0002t0019g0176 a0001c0002t0021g0246 a0001c0002t0022g0261 a0001c0002t0026g0301 a0001c0004t0003g0264 a0001c0004t0003g0265 a0001c0004t0003g0270 a0001c0004t0003g0312 a0001c0004t0003g0313 a0003c0010t0001g0229	97	328	0.2957	25	c.327 others(42): Show c.327+2297_327+2298insGATATATAAATATATATTTATATAT	RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	3/21			chr13	TogoVar
RBM33_chr7_155639661_155786480	155673940	G G	GTTGTTGT others(18): Show GTTGTTGTTTGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03492.hp2 HG04204.hp1 others(1): Show HG00423.hp1 HG03492.hp2 HG04204.hp1 NA18957.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0001 a0002c0001t0002 a0002c0001t0004	a0002c0001t0001g0009 a0002c0001t0001g0062 a0002c0001t0002g0278 others(1): Show a0002c0001t0001g0009 a0002c0001t0001g0062 a0002c0001t0002g0278 a0002c0001t0004g0249	4	306	0.0131	25	c.171 others(42): Show c.171+1027_171+1028insGTTGTTTGTTTTTTTTTTTTTTTTT	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM33_chr7_155639661_155786480	155673940	G G	GTTGTTGT others(18): Show GTTGTTGTTTTTTTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0022 a0003c0007t0022	a0003c0007t0022g0290 a0003c0007t0022g0290	1	306	0.0033	25	c.171 others(42): Show c.171+1027_171+1028insGTTGTTTTTTTTTTGTTTTTTTTTT	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM39_chr20_35696347_35747260	35713666	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0072 a0001c0001t0004g0072	1	274	0.0037	25	c.109 others(42): Show c.1096+494_1096+518dupTTTTTTTTTTTTTTTTTTTTTTTTT	RBM39	ENSG00000131051.24	transcript	ENST00000253363.11	protein_coding	11/16			chr20	TogoVar
RBM42_chr19_35624036_35642685	35638908	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02735.hp2 HG01081.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0057 a0001c0001t0001g0001 a0001c0001t0001g0057	2	428	0.0047	25	c.13 others(36): Show c.1354_*1355insAAAAAAAAAAAAAAAAAAAAAAAAA	RBM42	ENSG00000126254.12	transcript	ENST00000262633.9	protein_coding		1224		chr19	TogoVar
RBM42_chr19_35624036_35642685	35638924	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	428	0.0023	25	c.13 others(36): Show c.1370_*1371insAAAAAAAAAAAAAAAAAAAAAAAAC	RBM42	ENSG00000126254.12	transcript	ENST00000262633.9	protein_coding		1240		chr19	TogoVar
RBM46_chr4_154776272_154833813	154780904	T T	TGTGGTTG others(18): Show TGTGGTTGTTTTGCGCCAAACTAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02818.hp2 HG02630.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0093 a0001c0001t0009g0094 a0001c0001t0009g0093 a0001c0001t0009g0094	2	374	0.0054	25	c.-54 others(34): Show c.-544_-543insGTGGTTGTTTTGCGCCAAACTAGCA	RBM46	ENSG00000151962.8	transcript	ENST00000281722.8	protein_coding		367		chr4	TogoVar
RBM46_chr4_154776272_154833813	154780919	C C	CCAAACTA others(18): Show CCAAACTAGCAGTGGTTGTTTTGCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG02280.hp2 others(15): Show HG02055.hp1 HG02258.hp2 HG02280.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03471.hp2 HG03540.hp2 NA18906.hp1 NA19043.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0005 a0001c0001t0004g0010 a0001c0001t0004g0021 others(9): Show a0001c0001t0004g0005 a0001c0001t0004g0010 a0001c0001t0004g0021 a0001c0001t0004g0077 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0015g0290	18	374	0.0481	25	c.-52 others(34): Show c.-529_-528insCAAACTAGCAGTGGTTGTTTTGCGT	RBM46	ENSG00000151962.8	transcript	ENST00000281722.8	protein_coding		352		chr4	TogoVar
RBM47_chr4_40418280_40634864	40437090	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0009 a0001c0008t0009	a0001c0008t0009g0222 a0001c0008t0009g0222	1	278	0.0036	25	c.112 others(42): Show c.1124-444_1124-443insATATATATTTTTTTTTTTTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40437090	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18975.hp1 HG02074.hp1 NA18975.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0026 a0002c0002t0130 a0001c0001t0026 a0002c0002t0130	a0001c0001t0026g0181 a0002c0002t0130g0266 a0001c0001t0026g0181 a0002c0002t0130g0266	2	278	0.0072	25	c.112 others(42): Show c.1124-444_1124-443insATATATATATTTTTTTTTTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40535371	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0146 a0002c0002t0006g0146	1	278	0.0036	25	c.-15 others(44): Show c.-155+9050_-155+9051insAAAAAAAGAAAAAAAAAAAAAAAAA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	2/6			chr4	TogoVar
RBM48_chr7_92523795_92545481	92544398	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	1	396	0.0025	25	c.74 others(36): Show c.7461_*7462insTTTTTTTTTTTTTTTTTTTTTTTTT	RBM48	ENSG00000127993.16	transcript	ENST00000265732.10	protein_coding		3918		chr7	TogoVar
RBM5_chr3_50083919_50124021	50106118	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0178	1	284	0.0035	25	c.855 others(40): Show c.855+419_855+443dupTTTTTTTTTTTTTTTTTTTTTTTTT	RBM5	ENSG00000003756.17	transcript	ENST00000347869.8	protein_coding	10/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS1_chr2_160267151_160498807	160311209	A A	AAATCTAT others(18): Show AAATCTATCTATCTATATATCTATAT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0257 a0001c0002t0004g0257	1	328	0.0031	25	c.402 others(42): Show c.402+1946_402+1947insATATAGATATATAGATAGATAGATT	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	4/13			chr2	TogoVar
RBMS1_chr2_160267151_160498807	160426297	A A	AAGAAAGA others(18): Show AAGAAAGAAAGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	328	0.0031	25	c.76- others(42): Show c.76-58907_76-58906insCTTCCTTCCTTCCTTCTTTCTTTCT	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS3_chr3_29276071_30015386	29324642	T T	TGGAGCTC others(18): Show TGGAGCTCCCAGATGCCTTGTAGAGC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03209.hp2 NA19240.hp1 HG02965.hp1 HG03209.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0071 a0001c0001t0074 a0001c0001t0017 a0001c0001t0071 a0001c0001t0074	a0001c0001t0017g0082 a0001c0001t0071g0080 a0001c0001t0074g0031 a0001c0001t0017g0082 a0001c0001t0071g0080 a0001c0001t0074g0031	3	116	0.0259	25	c.75+ others(42): Show c.75+42886_75+42887insGGAGCTCCCAGATGCCTTGTAGAGC	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	1/14			chr3	TogoVar
RBMS3_chr3_29276071_30015386	29444788	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03209.hp1 NA18944.hp2 HG02451.hp1 HG03209.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0080 a0001c0002t0031 a0001c0001t0008 a0001c0001t0080 a0001c0002t0031	a0001c0001t0008g0079 a0001c0001t0080g0033 a0001c0002t0031g0039 a0001c0001t0008g0079 a0001c0001t0080g0033 a0001c0002t0031g0039	3	116	0.0259	25	c.248 others(42): Show c.248+9897_248+9898insTTTTTTTTTTTTTTTTTTTTTTTTT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29578790	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0001 a0001c0001t0069g0001	1	116	0.0086	25	c.308 others(42): Show c.308-8302_308-8301insTTTTTTTTTTTTTTTTTTTTTTTTT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMX_chrX_136868461_136885725	136884618	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	308	0.0033	25	c.-40 others(36): Show c.-4049_-4048insAAAAAAAAAAAAAAAAAAAAAAAAA	RBMX	ENSG00000147274.14	transcript	ENST00000320676.11	protein_coding		3894		chrX	TogoVar
RBPJL_chr20_45301840_45322824	45305805	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00544.hp2 others(21): Show HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG01255.hp1 HG01952.hp2 HG02040.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02300.hp2 HG03017.hp2 HG03831.hp2 HG04199.hp2 NA18747.hp1 NA18939.hp2 NA18981.hp2 NA18986.hp1 NA18991.hp1 NA18999.hp1 NA19003.hp1 NA19074.hp2 NA19077.hp1 NA19090.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0017 others(1): Show a0001c0001 a0001c0002 a0001c0017 a0008c0014	a0001c0001t0001 a0001c0002t0001 a0001c0017t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0017t0001 a0008c0014t0001	a0001c0001t0001g0036 a0001c0001t0001g0077 a0001c0002t0001g0001 others(11): Show a0001c0001t0001g0036 a0001c0001t0001g0077 a0001c0002t0001g0001 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0082 a0001c0002t0001g0087 a0001c0002t0001g0089 a0001c0002t0001g0096 a0001c0002t0001g0102 a0001c0002t0001g0107 a0001c0002t0001g0109 a0001c0017t0001g0001 a0008c0014t0001g0001	24	446	0.0538	25	c.-11 others(36): Show c.-1118_-1117insTTTTTTTTTTTTTTTTTTTTTTTTT	RBPJL	ENSG00000124232.11	transcript	ENST00000343694.8	protein_coding		1034		chr20	TogoVar
RBPJ_chr4_26316014_26439923	26316673	C C	CATATATA others(18): Show CATATATATATATACACACATTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0025 a0001c0002t0024g0025	1	316	0.0032	25	c.-43 others(36): Show c.-4356_-4355insATATATATATATACACACATTGTGT	RBPJ	ENSG00000168214.22	transcript	ENST00000355476.8	protein_coding		4340		chr4	TogoVar
RBSN_chr3_15065073_15104148	15065192	C C	CATGGCGG others(18): Show CATGGCGGCAACGGTGGCGGGGCCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	360	0.0028	25	c.85 others(36): Show c.8565_*8589dupTCGGCCCCGCCACCGTTGCCGCCAT	RBSN	ENSG00000131381.12	transcript	ENST00000253699.7	protein_coding		4880		chr3	TogoVar
RC3H1_chr1_173926084_174027357	173929831	T T	TTTTTTTT others(18): Show TTTTTTTTTTTTTTTTTTTTTTTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	310	0.0032	25	c.88 others(36): Show c.8889_*8890insTAAAAAAAAAAAAAAAAAAAAAAAA	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding		1252		chr1	TogoVar
RC3H1_chr1_173926084_174027357	173942428	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG03130.hp1 others(1): Show HG02055.hp2 HG02486.hp1 HG03130.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0286 others(1): Show a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0286 a0001c0001t0005g0287	4	310	0.0129	25	c.313 others(44): Show c.3135+1013_3135+1014insTTTTTTTTTTTTTTTTTTTTTTTTT	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	18/19			chr1	TogoVar
RCC1_chr1_28501043_28543989	28543238	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	294	0.0034	25	c.52 others(36): Show c.5231_*5232insAAAAAAAATATATATATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4250		chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02004.hp2 HG04115.hp1 others(1): Show HG00735.hp1 HG02004.hp2 HG04115.hp1 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0144 a0001c0002t0002g0158 a0001c0002t0005g0157 others(1): Show a0001c0002t0002g0144 a0001c0002t0002g0158 a0001c0002t0005g0157 a0001c0002t0005g0360	4	390	0.0103	25	c.286 others(42): Show c.286-2161_286-2160insATATATATATATATATATATATTTT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	ATAAAAAA others(18): Show ATAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0259 a0001c0001t0003g0259	1	390	0.0026	25	c.286 others(42): Show c.286-2161_286-2160insATATATATATATATATTTTTTTTTA	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	ATAAAAAT others(18): Show ATAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01167.hp1 HG01169.hp1 others(6): Show HG00438.hp2 HG01167.hp1 HG01169.hp1 HG01943.hp2 HG01981.hp2 NA18971.hp1 NA19005.hp2 NA19055.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010	a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0293 others(6): Show a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0004g0216 a0001c0001t0004g0218 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0010g0253	9	390	0.0231	25	c.286 others(42): Show c.286-2161_286-2160insATATATATATATATATATATTTTTA	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCHY1_chr4_75474033_75519403	75487592	A A	AATATATA others(18): Show AATATATATTCATATATATTCATAAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00544.hp2 others(86): Show HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02273.hp1 HG02523.hp1 HG02698.hp2 HG02735.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 NA18940.hp2 NA18942.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp1 NA18963.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18975.hp2 NA18977.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18990.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp1 NA19058.hp1 NA19067.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0023 a0001c0002t0002	a0001c0001t0001g0252 a0001c0001t0002g0001 a0001c0001t0002g0003 others(47): Show a0001c0001t0001g0252 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0021 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0049 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0004g0221 a0001c0001t0004g0245 a0001c0001t0010g0037 a0001c0001t0010g0208 a0001c0001t0010g0229 a0001c0001t0011g0040 a0001c0001t0011g0213 a0001c0001t0012g0024 a0001c0001t0012g0048 a0001c0001t0017g0044 a0001c0001t0023g0224 a0001c0002t0002g0046	89	406	0.2192	25	c.657 others(42): Show c.657+2964_657+2988dupATTATGAATATATATGAATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCHY1_chr4_75474033_75519403	75487682	T T	TATATATA others(18): Show TATATATATTCATATATATATTCATA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	406	0.0025	25	c.657 others(42): Show c.657+2874_657+2898dupTATGAATATATATATGAATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCSD1_chr1_167625232_167713696	167627369	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 NA19067.hp1 HG06807.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0029 a0001c0001t0002 a0001c0001t0029	a0001c0001t0002g0040 a0001c0001t0029g0179 a0001c0001t0002g0040 a0001c0001t0029g0179	2	350	0.0057	25	c.-30 others(36): Show c.-3055_-3054insTTTTTTTTTTTTTTTTTTTTTTTTT	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding		2862		chr1	TogoVar
RCSD1_chr1_167625232_167713696	167630721	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02083.hp1 HG03834.hp1 others(4): Show HG02055.hp1 HG02083.hp1 HG03834.hp1 HG04199.hp1 NA18966.hp2 NA18972.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(4): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0005g0020	7	350	0.0200	25	c.6+3 others(36): Show c.6+300_6+324dupAAAAAAAAAAAAAAAAAAAAAAAAA	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RDX_chr11_110224441_110301614	110289956	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18941.hp2 NA18966.hp2 others(3): Show HG02717.hp2 NA18941.hp2 NA18966.hp2 NA19010.hp1 NA19081.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0001t0001 a0001c0001t0003 a0001c0001t0016	a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0003g0004 others(2): Show a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0003g0004 a0001c0001t0003g0224 a0001c0001t0016g0313	6	376	0.0160	25	c.-65 others(42): Show c.-65+6486_-65+6510dupTTTTTTTTTTTTTTTTTTTTTTTTT	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	1/13			chr11	TogoVar
RDX_chr11_110224441_110301614	110289981	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0289 a0001c0001t0004g0289	1	376	0.0027	25	c.-65 others(42): Show c.-65+6485_-65+6486insGTTTTTTTTTTTTTTTTTTTTTTTT	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	1/13			chr11	TogoVar
RECK_chr9_36031913_36129455	36082152	T T	TCTCTCTC others(18): Show TCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	392	0.0026	25	c.440 others(42): Show c.440-1213_440-1212insCTCTCTCTCTCTCTCTCTCTCTCTC	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	7/20			chr9	TogoVar
RECQL4_chr8_144506288_144522833	144513768	A A	AGTGGGGA others(18): Show AGTGGGGAGTGAGGGAGGGGGTCGGC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0077 a0005c0010t0001g0077	1	412	0.0024	25	c.205 others(40): Show c.2059-57_2059-56insGCCGACCCCCTCCCTCACTCCCCAC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
REEP6_chr19_1486181_1502927	1500696	G G	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAAGAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0045 a0001c0003t0003g0045	1	318	0.0031	25	c.34 others(36): Show c.3485_*3486insAAAAAAAAAAAAAAAAGAAAAAAAA	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2770		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500696	G G	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAGAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02809.hp1 HG00639.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	2	318	0.0063	25	c.34 others(36): Show c.3485_*3486insAAAAAAAAAAAAAAAGAAAAAAAAA	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2770		chr19	TogoVar
RELB_chr19_44996464_45043192	45017449	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01123.hp2 HG01069.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0058 a0001c0001t0001g0066	2	382	0.0052	25	c.505 others(42): Show c.505-4590_505-4589insAAAAAAAAAAAAAAAAAAAAAAAAA	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45017450	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAACAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02723.hp1 others(3): Show HG02109.hp2 HG02451.hp2 HG02723.hp1 HG03041.hp2 HG03098.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0127 a0001c0001t0001g0135 a0001c0002t0001g0100 others(3): Show a0001c0001t0001g0127 a0001c0001t0001g0135 a0001c0002t0001g0100 a0001c0002t0001g0128 a0001c0002t0001g0130 a0001c0002t0001g0137	6	382	0.0157	25	c.505 others(42): Show c.505-4590_505-4589insACAAAAAAAAACAAAAAAAAAAAAA	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45035539	C C	CAACAACA others(18): Show CAACAACAACAACAACAACAACAACA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0369 a0001c0001t0001g0369	1	382	0.0026	25	c.135 others(44): Show c.1354+1013_1354+1014insCAACAACAACAACAACAACAACAAA	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELN_chr7_103466789_103994658	103977310	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0011 a0011	a0011c0082 a0011c0082	a0011c0082t0006 a0011c0082t0006	a0011c0082t0006g0151 a0011c0082t0006g0151	1	184	0.0054	25	c.226 others(44): Show c.226+11796_226+11820dupTTTTTTTTTTTTTTTTTTTTTTTTT	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	1/64			chr7	TogoVar
REM1_chr20_31470288_31489895	31470798	A A	ACCCCGTC others(18): Show ACCCCGTCCCCGCGGGGGGCGGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	344	0.0029	25	c.-47 others(36): Show c.-4788_-4787insCCCCGTCCCCGCGGGGGGCGGGGAC	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		4489		chr20	TogoVar

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Search Results (Total: 8644 hits)