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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
RPS6KA5_chr14_90842861_91065641	90885552	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0235 a0001c0001t0102g0235	1	306	0.0033	-24	c.183 others(43): Show c.1836+4911_1836+4934delTTTTTTTTTTTTTTTTTTTTTTTT	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	14/16			chr14	TogoVar
RPS6KA5_chr14_90842861_91065641	91020534	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0016 a0001c0001t0081g0016	1	306	0.0033	-24	c.104 others(43): Show c.104-19399_104-19376delCACACACACACACACACACACACA	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	1/16			chr14	TogoVar
RPS6KA5_chr14_90842861_91065641	91044355	GAAAGAAA others(17): Show GAAAGAAAGAGAAAGAAAGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01884.hp2 HG01952.hp1 others(19): Show HG00673.hp1 HG01884.hp2 HG01952.hp1 HG02080.hp1 HG02647.hp1 HG03139.hp2 HG03209.hp1 NA18941.hp2 NA18942.hp1 NA18955.hp1 NA18962.hp1 NA18966.hp2 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18998.hp2 NA19004.hp1 NA19055.hp2 NA19066.hp2 NA19083.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0020 a0001c0001t0064 a0001c0001t0080 a0001c0001t0117 a0001c0001t0118 a0001c0001t0120 a0001c0001t0134 a0001c0001t0137 a0001c0001t0152 a0001c0001t0156 a0001c0001t0168 a0001c0001t0224 a0001c0002t0002 a0001c0002t0104 a0001c0002t0130 a0001c0003t0083	a0001c0001t0001g0134 a0001c0001t0001g0191 a0001c0001t0002g0159 others(19): Show a0001c0001t0001g0134 a0001c0001t0001g0191 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0014g0209 a0001c0001t0020g0141 a0001c0001t0064g0210 a0001c0001t0080g0197 a0001c0001t0117g0162 a0001c0001t0118g0149 a0001c0001t0120g0170 a0001c0001t0134g0193 a0001c0001t0137g0139 a0001c0001t0152g0184 a0001c0001t0156g0194 a0001c0001t0168g0165 a0001c0001t0224g0211 a0001c0002t0002g0178 a0001c0002t0002g0185 a0001c0002t0104g0174 a0001c0002t0130g0137 a0001c0003t0083g0160	22	306	0.0719	-24	c.103 others(43): Show c.103+15953_103+15976delTTCCTTCTTTCTTTCTCTTTCTTT	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	1/16			chr14	TogoVar
RPS6KA5_chr14_90842861_91065641	91044359	GAAAGAGA others(17): Show GAAAGAGAAAGAAAGAAGGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0242 a0001c0001t0242	a0001c0001t0242g0017 a0001c0001t0242g0017	1	306	0.0033	-24	c.103 others(43): Show c.103+15949_103+15972delTTCTTTCCTTCTTTCTTTCTCTTT	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	1/16			chr14	TogoVar
RPS6KA5_chr14_90842861_91065641	91044392	GGAAAGAA others(17): Show GGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02818.hp2 HG02896.hp1 others(2): Show HG02451.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0139 a0001c0001t0196 others(1): Show a0001c0001t0029 a0001c0001t0139 a0001c0001t0196 a0001c0001t0197	a0001c0001t0029g0288 a0001c0001t0029g0289 a0001c0001t0139g0293 others(2): Show a0001c0001t0029g0288 a0001c0001t0029g0289 a0001c0001t0139g0293 a0001c0001t0196g0291 a0001c0001t0197g0290	5	306	0.0163	-24	c.103 others(43): Show c.103+15916_103+15939delTTTCTTTCTTTCTTTCTTTCTTTC	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	1/16			chr14	TogoVar
RPS6KA5_chr14_90842861_91065641	91062558	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0241 a0001c0001t0241	a0001c0001t0241g0041 a0001c0001t0241g0041	1	306	0.0033	-24	c.-21 others(35): Show c.-2148_-2125delATATATATATATATATATATATAT	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding		1918		chr14	TogoVar
RPS6KA5_chr14_90842861_91065641	91062588	TATATATA others(17): Show TATATATATATATATATATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 NA19055.hp2 HG03453.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0181 a0001c0001t0001 a0001c0001t0181	a0001c0001t0001g0134 a0001c0001t0181g0005 a0001c0001t0001g0134 a0001c0001t0181g0005	2	306	0.0065	-24	c.-21 others(35): Show c.-2178_-2155delTTATATATATATATATATATATAT	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding		1948		chr14	TogoVar
RPS6KB1_chr17_59888121_59955574	59900171	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00738.hp2 HG01069.hp2 others(33): Show HG00438.hp1 HG00738.hp2 HG01069.hp2 HG01261.hp1 HG02015.hp2 HG02071.hp1 HG02257.hp2 HG02273.hp2 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 NA18747.hp2 NA18943.hp2 NA18949.hp1 NA18950.hp2 NA18959.hp1 NA18962.hp1 NA18966.hp2 NA18967.hp2 NA18974.hp2 NA18983.hp2 NA18991.hp1 NA18992.hp1 NA19001.hp2 NA19043.hp1 NA19056.hp1 NA19062.hp1 NA19080.hp1 NA19086.hp1 NA19089.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009	a0001c0001t0001g0207 a0001c0001t0001g0266 a0001c0001t0003g0001 others(32): Show a0001c0001t0001g0207 a0001c0001t0001g0266 a0001c0001t0003g0001 a0001c0001t0003g0220 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0006g0221 a0001c0001t0006g0233 a0001c0001t0006g0234 a0001c0001t0006g0255 a0001c0001t0006g0270 a0001c0001t0006g0271 a0001c0001t0006g0272 a0001c0001t0009g0276 a0001c0001t0009g0277	36	304	0.1184	-24	c.141 others(41): Show c.141+6883_141+6906delACACACACACACACACACACACAC	RPS6KB1	ENSG00000108443.14	transcript	ENST00000225577.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPS6KB1_chr17_59888121_59955574	59909226	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19000.hp2 NA19007.hp1 NA18973.hp1 NA19000.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0146 a0001c0001t0001g0227 a0001c0001t0001g0118 a0001c0001t0001g0146 a0001c0001t0001g0227	3	304	0.0099	-24	c.142 others(41): Show c.142-1300_142-1277delTTTTTTTTTTTTTTTTTTTTTTTT	RPS6KB1	ENSG00000108443.14	transcript	ENST00000225577.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPS6KB1_chr17_59888121_59955574	59910954	ACAAACAG others(17): Show ACAAACAGAAATTCATACAGTCATT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02818.hp1 others(5): Show HG02055.hp1 HG02145.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0122 a0001c0001t0001g0130 others(5): Show a0001c0001t0001g0108 a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0195 a0001c0001t0001g0200	8	304	0.0263	-24	c.191 others(39): Show c.191+359_191+382delACAGTCATTCAAACAGAAATTCAT	RPS6KB1	ENSG00000108443.14	transcript	ENST00000225577.9	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPS6KC1_chr1_213046241_213279774	213119425	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01346.hp1 HG01358.hp2 others(5): Show HG01123.hp1 HG01346.hp1 HG01358.hp2 HG03540.hp1 HG03654.hp2 HG06807.hp1 NA19054.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0099 a0001c0001t0002g0109 a0001c0001t0002g0112 others(5): Show a0001c0001t0001g0099 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0201 a0001c0001t0002g0202 a0002c0002t0001g0267	8	330	0.0242	-24	c.472 others(41): Show c.472+2066_472+2089delATATATATATATATATATATATAT	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPTOR_chr17_80539838_80971368	80561239	TTATATAT others(17): Show TTATATATATATGTATATATATATG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG00741.hp1 others(4): Show HG00099.hp2 HG00735.hp1 HG00741.hp1 HG01071.hp2 HG01167.hp2 HG02717.hp1 HG03139.hp1	a0001 a0001	a0001c0025 a0001c0038 a0001c0041 others(3): Show a0001c0025 a0001c0038 a0001c0041 a0001c0042 a0001c0043 a0001c0065	a0001c0025t0051 a0001c0025t0052 a0001c0038t0007 others(4): Show a0001c0025t0051 a0001c0025t0052 a0001c0038t0007 a0001c0041t0004 a0001c0042t0055 a0001c0043t0008 a0001c0065t0007	a0001c0025t0051g0174 a0001c0025t0052g0181 a0001c0038t0007g0178 others(4): Show a0001c0025t0051g0174 a0001c0025t0052g0181 a0001c0038t0007g0178 a0001c0041t0004g0175 a0001c0042t0055g0179 a0001c0043t0008g0176 a0001c0065t0007g0101	7	196	0.0357	-24	c.162 others(43): Show c.162+15460_162+15483delGTATATATATATGTATATATATAT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRAS_chr19_49630292_49645143	49644135	GGGTTAGG others(17): Show GGGTTAGGGATTTTGAAGCTTTCTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	414	0.0024	-24	c.-40 others(35): Show c.-4061_-4038delTAGAAAGCTTCAAAATCCCTAACC	RRAS	ENSG00000126458.4	transcript	ENST00000246792.4	protein_coding		3993		chr19	TogoVar
RREB1_chr6_7102961_7256980	7103356	CATATAAT others(17): Show CATATAATATATAATATTATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0011 a0003c0012t0011	a0003c0012t0011g0119 a0003c0012t0011g0119	1	292	0.0034	-24	c.-49 others(35): Show c.-4988_-4965delATATAATATATAATATTATATATA	RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding		4604		chr6	TogoVar
RREB1_chr6_7102961_7256980	7103389	TATATAAT others(17): Show TATATAATATATAATATTATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02895.hp1 HG02897.hp1 others(5): Show HG01109.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03471.hp2 HG03540.hp1 NA18522.hp1 NA18906.hp1	a0001 a0005 a0012 others(2): Show a0001 a0005 a0012 a0014 a0035	a0001c0001 a0005c0003 a0012c0013 others(2): Show a0001c0001 a0005c0003 a0012c0013 a0014c0020 a0035c0033	a0001c0001t0082 a0005c0003t0033 a0005c0003t0079 others(3): Show a0001c0001t0082 a0005c0003t0033 a0005c0003t0079 a0012c0013t0080 a0014c0020t0034 a0035c0033t0081	a0001c0001t0082g0235 a0005c0003t0033g0230 a0005c0003t0033g0232 others(5): Show a0001c0001t0082g0235 a0005c0003t0033g0230 a0005c0003t0033g0232 a0005c0003t0079g0231 a0012c0013t0080g0234 a0014c0020t0034g0236 a0014c0020t0034g0237 a0035c0033t0081g0233	8	292	0.0274	-24	c.-49 others(35): Show c.-4955_-4932delATATAATATATAATATTATATATA	RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding		4571		chr6	TogoVar
RRP1B_chr21_43654560_43701079	43678029	AACTGCTG others(17): Show AACTGCTGGATCAAATGGTGGATCT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0095 a0001c0001t0019g0095	1	372	0.0027	-24	c.796 others(41): Show c.796+1119_796+1142delGCTGGATCAAATGGTGGATCTACT	RRP1B	ENSG00000160208.13	transcript	ENST00000340648.6	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr21	TogoVar
RRP1_chr21_43784577_43810293	43787298	TTGCGTGC others(17): Show TTGCGTGCGTGCAACATACCCACTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(108): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00741.hp2 HG01099.hp1 HG01106.hp1 HG01192.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02300.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp2 HG06807.hp2 NA18747.hp2 NA18941.hp1 NA18944.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18957.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18983.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19081.hp1 NA19083.hp2 NA19088.hp2 NA19089.hp2 NA19091.hp2 NA20129.hp2	a0001 a0003 a0006 others(3): Show a0001 a0003 a0006 a0007 a0008 a0009	a0001c0001 a0001c0003 a0001c0012 others(5): Show a0001c0001 a0001c0003 a0001c0012 a0003c0006 a0006c0010 a0007c0014 a0008c0013 a0009c0011	a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 others(12): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0003t0018 a0001c0012t0003 a0003c0006t0005 a0003c0006t0006 a0006c0010t0003 a0007c0014t0005 a0008c0013t0030 a0009c0011t0008	a0001c0001t0003g0001 a0001c0001t0003g0017 a0001c0001t0003g0018 others(34): Show a0001c0001t0003g0001 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0037 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0054 a0001c0001t0006g0080 a0001c0001t0007g0001 a0001c0001t0007g0040 a0001c0001t0008g0075 a0001c0001t0027g0001 a0001c0001t0028g0053 a0001c0001t0029g0018 a0001c0003t0018g0002 a0001c0012t0003g0017 a0003c0006t0005g0008 a0003c0006t0006g0008 a0003c0006t0006g0076 a0003c0006t0006g0077 a0003c0006t0006g0078 a0003c0006t0006g0079 a0006c0010t0003g0001 a0007c0014t0005g0039 a0008c0013t0030g0052 a0009c0011t0008g0059	111	394	0.2817	-24	c.-23 others(35): Show c.-2331_-2308delTGCGTGCGTGCAACATACCCACTG	RRP1	ENSG00000160214.13	transcript	ENST00000497547.2	protein_coding		2278		chr21	TogoVar
RRP36_chr6_43016623_43034599	43027762	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18999.hp2 NA18944.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0058 a0001c0001t0001g0062	2	334	0.0060	-24	c.643 others(39): Show c.643+299_643+322delCACACACACACACACACACACACA	RRP36	ENSG00000124541.7	transcript	ENST00000244496.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
RS1_chrX_18634688_18677108	18651242	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	308	0.0033	-24	c.185 others(41): Show c.185-3934_185-3911delTCACACACACACACACACACACAC	RS1	ENSG00000102104.9	transcript	ENST00000379984.4	protein_coding	3/5			chrX	TogoVar
RSAD1_chr17_50473860_50490974	50476060	TGCCTGCC others(17): Show TGCCTGCCCCCTTACCTCCCAGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0001	1	382	0.0026	-24	c.-28 others(35): Show c.-2824_-2801delGCCTGCCCCCTTACCTCCCAGCGC	RSAD1	ENSG00000136444.10	transcript	ENST00000258955.7	protein_coding		2799		chr17	TogoVar
RSAD1_chr17_50473860_50490974	50476157	GCCTGCCC others(17): Show GCCTGCCCCCTTACCTCGCAGCGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG02451.hp2 others(2): Show HG01243.hp1 HG02145.hp2 HG02451.hp2 HG03098.hp1 HG03453.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0005 a0003c0004 a0001c0002 a0001c0005 a0003c0004	a0001c0002t0001 a0001c0005t0001 a0003c0004t0001 a0001c0002t0001 a0001c0005t0001 a0003c0004t0001	a0001c0002t0001g0026 a0001c0005t0001g0017 a0003c0004t0001g0006 a0001c0002t0001g0026 a0001c0005t0001g0017 a0003c0004t0001g0006	5	382	0.0131	-24	c.-27 others(35): Show c.-2727_-2704delCCTGCCCCCTTACCTCGCAGCGCT	RSAD1	ENSG00000136444.10	transcript	ENST00000258955.7	protein_coding		2702		chr17	TogoVar
RSAD1_chr17_50473860_50490974	50476270	CCAGCGCG others(17): Show CCAGCGCGCCTGCCCCCTTACCTCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	382	0.0026	-24	c.-26 others(35): Show c.-2614_-2591delCAGCGCGCCTGCCCCCTTACCTCG	RSAD1	ENSG00000136444.10	transcript	ENST00000258955.7	protein_coding		2589		chr17	TogoVar
RSAD1_chr17_50473860_50490974	50476294	GCAGCGCG others(17): Show GCAGCGCGCCTGCCCCCTTACCTCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0001	1	382	0.0026	-24	c.-25 others(35): Show c.-2590_-2567delCAGCGCGCCTGCCCCCTTACCTCC	RSAD1	ENSG00000136444.10	transcript	ENST00000258955.7	protein_coding		2565		chr17	TogoVar
RSPH10B2_chr7_6749103_6803765	6776873	TCACACAC others(17): Show TCACACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01884.hp1 HG02735.hp1 others(1): Show HG01071.hp2 HG01884.hp1 HG02735.hp1 NA19011.hp2	a0002 a0004 a0012 a0002 a0004 a0012	a0002c0025 a0004c0004 a0004c0015 others(1): Show a0002c0025 a0004c0004 a0004c0015 a0012c0017	a0002c0025t0001 a0004c0004t0004 a0004c0015t0001 others(1): Show a0002c0025t0001 a0004c0004t0004 a0004c0015t0001 a0012c0017t0002	a0002c0025t0001g0108 a0004c0004t0004g0096 a0004c0015t0001g0057 others(1): Show a0002c0025t0001g0108 a0004c0004t0004g0096 a0004c0015t0001g0057 a0012c0017t0002g0084	4	108	0.0370	-24	c.141 others(41): Show c.1414+358_1414+381delCACACACACACACACACACACACA	RSPH10B2	ENSG00000169402.16	transcript	ENST00000404077.6	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
RSPH14_chr22_23054415_23146990	23130060	AAAGAAAG others(17): Show AAAGAAAGAAAGAAAGAAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01515.hp2 HG01517.hp1 others(9): Show HG00741.hp2 HG01515.hp2 HG01517.hp1 HG02258.hp1 HG02258.hp2 HG02698.hp1 HG02922.hp1 HG02970.hp2 HG03017.hp2 HG03486.hp2 HG03540.hp2 HG03704.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 a0001c0001t0001 a0001c0001t0003 a0002c0003t0001	a0001c0001t0001g0127 a0001c0001t0001g0159 a0001c0001t0001g0160 others(9): Show a0001c0001t0001g0127 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0177 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0300 a0001c0001t0003g0003 a0002c0003t0001g0124	12	314	0.0382	-24	c.421 others(41): Show c.421+3942_421+3965delCCTTTCTTTCTTTCTTTCTTTCTT	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar
RSPH14_chr22_23054415_23146990	23130084	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02818.hp1 HG03486.hp1 HG00544.hp2 HG02818.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0129 a0001c0002t0001g0145 a0001c0002t0001g0023 a0001c0002t0001g0129 a0001c0002t0001g0145	3	314	0.0096	-24	c.421 others(41): Show c.421+3918_421+3941delTCTTTCTTTCTTTCTTTCTTTCTT	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar
RSPH1_chr21_42467486_42501224	42476994	GTCCCACA others(17): Show GTCCCACAGCCCGGGGGATGCCCCA	G G	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	408	0.0025	-24	c.727 others(39): Show c.727+273_727+296delTGGGGCATCCCCCGGGCTGTGGGA	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH6A_chr19_45790713_45820308	45806670	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0236 a0002c0002t0001g0236	1	424	0.0024	-24	c.889 others(41): Show c.889-1678_889-1655delTTTTTTTTTTTTTTTTTTTTTTTT	RSPH6A	ENSG00000104941.8	transcript	ENST00000221538.8	protein_coding	2/5			chr19	TogoVar
RSPO2_chr8_107894316_108088620	108003271	GTGTGTGT others(17): Show GTGTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0008 a0001c0001t0013g0008	1	240	0.0042	-24	c.95- others(41): Show c.95-14051_95-14028delTATATATATATATATATACACACA	RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5			chr8	TogoVar
RSPO3_chr6_127113671_127204481	127117986	AAGAAAGA others(17): Show AAGAAAGAAAGAAAGAAAGAAAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG03579.hp2 HG04204.hp1 HG02109.hp1 HG03579.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0002g0079 a0001c0001t0003g0250 a0001c0001t0008g0251 a0001c0001t0002g0079 a0001c0001t0003g0250 a0001c0001t0008g0251	3	310	0.0097	-24	c.-12 others(35): Show c.-1206_-1183delAGAAAGAAAGAAAGAAAGAAAGAG	RSPO3	ENSG00000146374.14	transcript	ENST00000356698.9	protein_coding		684		chr6	TogoVar
RTF2_chr20_56463627_56524449	56515595	GAGAGACA others(17): Show GAGAGACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA21309.hp1 HG02300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0123 a0001c0001t0001g0081 a0001c0001t0001g0123	2	388	0.0052	-24	c.592 others(41): Show c.592-1338_592-1315delGAGACACACACACACACACACACA	RTF2	ENSG00000022277.13	transcript	ENST00000357348.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTKN2_chr10_62188086_62273844	62195606	TGAAGGAA others(17): Show TGAAGGAAGGAAGGAAGGAAGGAAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 HG02615.hp1 HG02809.hp2 HG02257.hp2 HG02615.hp1 HG02809.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0002 a0002c0003 a0003c0002	a0002c0003t0035 a0003c0002t0070 a0002c0003t0035 a0003c0002t0070	a0002c0003t0035g0158 a0002c0003t0035g0159 a0003c0002t0070g0117 a0002c0003t0035g0158 a0002c0003t0035g0159 a0003c0002t0070g0117	3	262	0.0115	-24	c.22 others(35): Show c.2278_*2301delCTTCCTTCCTTCCTTCCTTCCTTC	RTKN2	ENSG00000182010.11	transcript	ENST00000373789.8	protein_coding	12/12	2278		chr10	TogoVar
RTKN_chr2_74420835_74446937	74443611	GATATAGA others(17): Show GATATAGATAGATATAGATATAGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02970.hp2 HG03209.hp2 HG01884.hp1 HG02970.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0038	3	382	0.0079	-24	c.-18 others(35): Show c.-1819_-1796delATCTATATCTATATCTATCTATAT	RTKN	ENSG00000114993.17	transcript	ENST00000272430.10	protein_coding		1675		chr2	TogoVar
RTKN_chr2_74420835_74446937	74443617	GATAGATA others(17): Show GATAGATATAGATATAGATATAGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01106.hp2 HG01192.hp2 others(26): Show HG00735.hp1 HG01106.hp2 HG01192.hp2 HG01952.hp1 HG02165.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03225.hp1 HG03471.hp2 HG03579.hp1 HG03831.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18957.hp1 NA18982.hp1 NA18993.hp2 NA19062.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(13): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0082 a0001c0001t0001g0098 a0001c0002t0001g0006 a0001c0002t0001g0059 a0001c0002t0001g0063 a0002c0003t0001g0025	29	382	0.0759	-24	c.-18 others(35): Show c.-1825_-1802delATCTATATCTATATCTATATCTAT	RTKN	ENSG00000114993.17	transcript	ENST00000272430.10	protein_coding		1681		chr2	TogoVar
RTKN_chr2_74420835_74446937	74443663	GATATAGA others(17): Show GATATAGATATAGATATAGATAGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	382	0.0026	-24	c.-18 others(35): Show c.-1871_-1848delATCTATCTATATCTATATCTATAT	RTKN	ENSG00000114993.17	transcript	ENST00000272430.10	protein_coding		1727		chr2	TogoVar
RTL4_chrX_112078016_112462514	112082811	GAGAGAGA others(17): Show GAGAGAGAGAGAGAGAGAGAGAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG03139.hp1 HG03195.hp1 HG02257.hp2 HG03139.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0004 a0001c0003t0005 a0001c0002t0002 a0001c0002t0004 a0001c0003t0005	a0001c0002t0002g0029 a0001c0002t0004g0030 a0001c0003t0005g0016 a0001c0002t0002g0029 a0001c0002t0004g0030 a0001c0003t0005g0016	3	134	0.0224	-24	c.-86 others(33): Show c.-869_-846delAGAGAGAGAGAGAGAGAGAGAGAA	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding		204		chrX	TogoVar
RTL4_chrX_112078016_112462514	112161788	TCTTCCTT others(17): Show TCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG02976.hp1 HG02055.hp1 HG02280.hp1 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0004 a0002c0001t0001 a0001c0002t0004 a0002c0001t0001	a0001c0002t0004g0015 a0001c0002t0004g0031 a0002c0001t0001g0026 a0001c0002t0004g0015 a0001c0002t0004g0031 a0002c0001t0001g0026	3	134	0.0224	-24	c.-44 others(45): Show c.-445+30723_-445+30746delCCTTCCTTCCTTCCTTCCTTCCTT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL4_chrX_112078016_112462514	112236398	AATATAGA others(17): Show AATATAGATATAGATCTATATCTAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp1 HG01167.hp1 others(23): Show HG00140.hp1 HG01069.hp1 HG01167.hp1 HG01168.hp2 HG01192.hp1 HG01358.hp1 HG01433.hp1 HG01952.hp1 HG02055.hp1 HG02071.hp1 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03130.hp1 NA18906.hp2 NA18948.hp1 NA18965.hp2 NA18986.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19060.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0002 a0001c0003 a0002c0001 others(2): Show a0001c0002 a0001c0003 a0002c0001 a0003c0004 a0005c0006	a0001c0002t0002 a0001c0002t0004 a0001c0002t0011 others(6): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0011 a0001c0003t0003 a0001c0003t0005 a0002c0001t0001 a0002c0001t0014 a0003c0004t0016 a0005c0006t0002	a0001c0002t0002g0017 a0001c0002t0002g0042 a0001c0002t0002g0063 others(23): Show a0001c0002t0002g0017 a0001c0002t0002g0042 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0084 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0102 a0001c0002t0002g0110 a0001c0002t0002g0112 a0001c0002t0004g0018 a0001c0002t0011g0099 a0001c0003t0003g0028 a0001c0003t0005g0117 a0002c0001t0001g0019 a0002c0001t0001g0026 a0002c0001t0001g0046 a0002c0001t0001g0059 a0002c0001t0001g0070 a0002c0001t0001g0105 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0014g0115 a0003c0004t0016g0129 a0005c0006t0002g0009	26	134	0.1940	-24	c.-44 others(45): Show c.-444-69876_-444-69853delCTATATCTATATATAGATATAGAT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL4_chrX_112078016_112462514	112437789	AGTGGTGG others(17): Show AGTGGTGGTGGTGATGGTGGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG00642.hp1 HG00738.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0020 a0002c0001t0001 a0002c0001t0020	a0002c0001t0001g0082 a0002c0001t0020g0023 a0002c0001t0001g0082 a0002c0001t0020g0023	2	134	0.0149	-24	c.-23 others(43): Show c.-230+6634_-230+6657delATGGTGGTGGTGGTGGTGGTGGTG	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL4_chrX_112078016_112462514	112437802	ATGGTGGT others(17): Show ATGGTGGTGGTGGTGGTGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01074.hp1 HG01168.hp1 others(20): Show HG00280.hp1 HG01074.hp1 HG01168.hp1 HG01168.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01515.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02895.hp1 HG02922.hp2 HG03098.hp1 HG03490.hp1 HG03710.hp1 NA18522.hp1 NA18906.hp1 NA18948.hp1 NA19030.hp1 NA19043.hp1 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0001 others(2): Show a0001c0002 a0001c0003 a0002c0001 a0003c0004 a0003c0005	a0001c0002t0002 a0001c0003t0003 a0001c0003t0005 others(7): Show a0001c0002t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0017 a0002c0001t0001 a0003c0004t0001 a0003c0004t0006 a0003c0004t0012 a0003c0004t0016 a0003c0005t0001	a0001c0002t0002g0084 a0001c0002t0002g0096 a0001c0002t0002g0110 others(20): Show a0001c0002t0002g0084 a0001c0002t0002g0096 a0001c0002t0002g0110 a0001c0002t0002g0112 a0001c0003t0003g0013 a0001c0003t0003g0028 a0001c0003t0003g0120 a0001c0003t0005g0111 a0001c0003t0005g0117 a0001c0003t0017g0125 a0002c0001t0001g0033 a0003c0004t0001g0034 a0003c0004t0001g0041 a0003c0004t0001g0085 a0003c0004t0001g0087 a0003c0004t0001g0116 a0003c0004t0006g0039 a0003c0004t0012g0052 a0003c0004t0016g0129 a0003c0005t0001g0010 a0003c0005t0001g0088 a0003c0005t0001g0089 a0003c0005t0001g0130	23	134	0.1716	-24	c.-23 others(43): Show c.-230+6666_-230+6689delGGTGGTGGTGGTGGTGGTGGTGGT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTN1_chr14_59590983_59875776	59749396	ATATATAT others(17): Show ATATATATCTATATCTATATATATC	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	172	0.0058	-24	c.242 others(41): Show c.242-2939_242-2916delGATATATATAGATATAGATATATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN2_chr19_45480294_45502047	45496552	GCAGCGCG others(17): Show GCAGCGCGCCCCCCGCCTGCTGTCT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0194 a0001c0005t0001g0194	1	432	0.0023	-24	c.34+ others(37): Show c.34+216_34+239delAGACAGCAGGCGGGGGGCGCGCTG	RTN2	ENSG00000125744.12	transcript	ENST00000245923.9	protein_coding	1/10			chr19	TogoVar
RTN4RL1_chr17_1929677_2030334	1993445	ATCACCTG others(17): Show ATCACCTGTGAAATGGGCTAAGCAC	A A	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0321 a0001c0001t0005g0321	1	384	0.0026	-24	c.13+ others(41): Show c.13+31384_13+31407delGTGCTTAGCCCATTTCACAGGTGA	RTN4RL1	ENSG00000185924.7	transcript	ENST00000331238.7	protein_coding	1/1			chr17	TogoVar
RTP2_chr3_187693259_187707557	187699760	CACACACA others(17): Show CACACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00673.hp2 others(59): Show HG00099.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp2 HG01884.hp1 HG01891.hp2 HG02040.hp1 HG02056.hp2 HG02145.hp1 HG02451.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03540.hp1 HG03579.hp1 HG03710.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18954.hp2 NA18955.hp1 NA18961.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18979.hp1 NA18982.hp2 NA18986.hp2 NA18993.hp1 NA18998.hp1 NA19004.hp1 NA19043.hp1 NA19057.hp1 NA19072.hp1 NA19078.hp1 NA19084.hp1 NA19088.hp1 NA19090.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0008 a0001c0001 a0002c0002 a0006c0008	a0001c0001t0001 a0002c0002t0003 a0002c0002t0005 others(2): Show a0001c0001t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 a0006c0008t0003	a0001c0001t0001g0054 a0002c0002t0003g0002 a0002c0002t0003g0038 others(6): Show a0001c0001t0001g0054 a0002c0002t0003g0002 a0002c0002t0003g0038 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0005g0024 a0002c0002t0008g0040 a0006c0008t0003g0037 a0006c0008t0003g0039	62	422	0.1469	-24	c.165 others(39): Show c.165-773_165-750delATGTGTGTGTGTGTGTGTGTGTGT	RTP2	ENSG00000198471.1	transcript	ENST00000358241.1	protein_coding	1/1			chr3	TogoVar
RTTN_chr18_69998031_70210687	70176194	GATGTAGA others(17): Show GATGTAGATGTATATGTATATGTAT	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0029	1	156	0.0064	-24	c.147 others(41): Show c.1476+457_1476+480delATACATATACATATACATCTACAT	RTTN	ENSG00000176225.15	transcript	ENST00000640769.2	protein_coding	11/48			chr18	TogoVar
RTTN_chr18_69998031_70210687	70176200	GATGTATA others(17): Show GATGTATATGTATATGTATATGTAT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01891.hp1 HG02145.hp2 others(4): Show HG01255.hp2 HG01891.hp1 HG02145.hp2 HG02818.hp2 HG03130.hp2 HG03516.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0139 a0002c0002t0002g0134 a0002c0002t0002g0135 others(4): Show a0002c0002t0001g0139 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0140	7	156	0.0449	-24	c.147 others(41): Show c.1476+451_1476+474delATACATATACATATACATATACAT	RTTN	ENSG00000176225.15	transcript	ENST00000640769.2	protein_coding	11/48			chr18	TogoVar
RUFY3_chr4_70716964_70813619	70720888	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 NA19043.hp1 HG02559.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0068 a0001c0001t0007g0069 a0001c0001t0007g0068 a0001c0001t0007g0069	2	254	0.0079	-24	c.-16 others(35): Show c.-1685_-1662delGTGTGTGTGTGTGTGTGTGTGTGT	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding		1075		chr4	TogoVar
RUNDC3B_chr7_87623398_87837296	87626724	GTGTCATA others(17): Show GTGTCATATATATGTGTCATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG03209.hp2 HG02717.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0066 a0001c0001t0059 a0001c0001t0066	a0001c0001t0059g0014 a0001c0001t0066g0013 a0001c0001t0059g0014 a0001c0001t0066g0013	2	202	0.0099	-24	c.-20 others(35): Show c.-2099_-2076delTGTCATATATATGTGTCATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1673		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87715251	TATTATAT others(17): Show TATTATATATAATTAATTTATAATA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02896.hp1 HG02897.hp1 HG02630.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0069 a0001c0001t0070 a0001c0001t0060 a0001c0001t0069 a0001c0001t0070	a0001c0001t0060g0015 a0001c0001t0069g0016 a0001c0001t0070g0017 a0001c0001t0060g0015 a0001c0001t0069g0016 a0001c0001t0070g0017	3	202	0.0149	-24	c.458 others(41): Show c.458+4701_458+4724delTAATTAATTTATAATAATTATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87780775	AAGATAAG others(17): Show AAGATAAGATGGATTGTGGGTATGT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0100 a0001c0001t0080g0100	1	202	0.0050	-24	c.956 others(41): Show c.956+2823_956+2846delATAAGATGGATTGTGGGTATGTAG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr7	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)