Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
RGL3_chr19_11389060_11424314	11414505	A A	ATATATAT others(39): Show ATATATATACACCTTCATATATATATATATATATATATATATATACC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02818.hp2 HG02572.hp2 HG02818.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0015c0029 a0001c0001 a0015c0029	a0001c0001t0001 a0015c0029t0001 a0001c0001t0001 a0015c0029t0001	a0001c0001t0001g0314 a0015c0029t0001g0150 a0001c0001t0001g0314 a0015c0029t0001g0150	2	383	0.0052	46	c.637 others(63): Show c.637+1431_637+1432insGGTATATATATATATATATATATATATA TATGAAGGTGTATATATA	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGL3_chr19_11389060_11424314	11414507	A A	ATATATAT others(39): Show ATATATATACACCTTCATATATATATATATATATATATATATATACC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0020 a0020	a0020c0022 a0020c0022	a0020c0022t0001 a0020c0022t0001	a0020c0022t0001g0166 a0020c0022t0001g0166	1	400	0.0025	46	c.637 others(63): Show c.637+1429_637+1430insGGTATATATATATATATATATATATATA TATGAAGGTGTATATATA	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGPD2_chr2_87750960_87830796	87825373	G G	GGCCGCCG others(39): Show GGCCGCCGCCGCCGCCGCCGCCGCCCGGCCAGGCCGAGGCCGAGGCC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	167	0.0060	46	c.72+ others(59): Show c.72+239_72+284dupGGCCTCGGCCTCGGCCTGGCCGGGCGGCGGCG GCGGCGGCGGCGGC	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGS6_chr14_71927429_72571530	72053075	C C	CCCTTCCC others(39): Show CCCTTCCCTCCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	84	0.0119	46	c.84+ others(63): Show c.84+88203_84+88204insTCCCTCCCTTCCCTCCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCT	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTGT others(39): Show GTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA21309.hp1 HG02723.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0111 a0001c0001t0001g0100 a0001c0001t0001g0111	2	17	0.1176	46	c.175 others(65): Show c.175+30427_175+30428insTATATATATATATATATATATATATA TATACACACACACACACACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTGT others(39): Show GTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02615.hp1 NA19068.hp1 HG00642.hp2 HG02615.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0102 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0102	3	18	0.1667	46	c.175 others(65): Show c.175+30427_175+30428insTATATATATATATATATATATATATA CACACACACACACACACACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241089063	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	26	0.0385	46	c.175 others(63): Show c.175+9602_175+9603insTATATATATATATATATATATATATATA TAGAGAGAGAGAGAGAGA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241259667	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	23	0.0435	46	c.78+ others(63): Show c.78+96031_78+96032insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RHOC_chr1_112696131_112712127	112706476	A A	ACACACAC others(39): Show ACACACACACACACACACACCACACACACACACACACACCCCCACAC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	419	0.0024	46	c.-77 others(61): Show c.-77+601_-77+602insGTGTGGGGGTGTGTGTGTGTGTGTGTGGTG TGTGTGTGTGTGTGTG	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar
RICTOR_chr5_38932920_39079399	39075284	T T	TACACACA others(39): Show TACACACACACACACACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	31	0.0323	46	c.-90 others(55): Show c.-908_-907insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding		886		chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180142	G G	GTATGTAT others(39): Show GTATGTATATATATATATATATATATATATGTATGTATATATATATA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	53	0.0189	46	c.67- others(59): Show c.67-950_67-949insTATATATATATACATACATATATATATATATA TATATATATACATA	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RMDN1_chr8_86467349_86513686	86508719	C C	CCCGCCTC others(39): Show CCCGCCTCCTGCACAGCACCTCTTCCGCCTCCTGCACAGCACCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	230	0.0043	46	c.-10 others(54): Show c.-100_-99insAAGAGGTGCTGTGCAGGAGGCGGAAGAGGTGCTGTGC AGGAGGCGG	RMDN1	ENSG00000176623.12	transcript	ENST00000406452.8	protein_coding		34		chr8	TogoVar
RNF126_chr19_642526_668214	649859	T T	TACTCACC others(39): Show TACTCACCAGGGACCCTGGCTGGGGATGGGGACAGGCACCCCCACCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(127): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00438.hp2 HG00642.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01884.hp1 HG01928.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03239.hp1 HG03490.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp2 NA18972.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18995.hp1 NA18997.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19081.hp2 NA19089.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0003c0006 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0003t0006 a0002c0005t0001 a0002c0005t0002 a0003c0006t0001 a0006c0013t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 others(119): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0081 a0001c0001t0001g0105 a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0138 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0217 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0339 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0357 a0001c0001t0001g0362 a0001c0001t0001g0364 a0001c0001t0001g0369 a0001c0001t0001g0375 a0001c0001t0001g0387 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0003g0286 a0001c0001t0004g0288 a0001c0001t0004g0289 a0001c0001t0004g0318 a0001c0001t0011g0064 a0001c0002t0001g0167 a0001c0002t0001g0200 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0287 a0001c0002t0001g0308 a0001c0002t0001g0347 a0001c0002t0001g0363 a0001c0002t0001g0378 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0039 a0002c0003t0001g0010 a0002c0003t0001g0137 a0002c0003t0001g0147 a0002c0003t0001g0184 a0002c0003t0001g0194 a0002c0003t0001g0201 a0002c0003t0001g0202 a0002c0003t0001g0203 a0002c0003t0001g0204 a0002c0003t0001g0231 a0002c0003t0001g0236 a0002c0003t0001g0237 a0002c0003t0001g0238 a0002c0003t0001g0309 a0002c0003t0001g0310 a0002c0003t0001g0320 a0002c0003t0001g0348 a0002c0003t0006g0274 a0002c0003t0006g0275 a0002c0005t0001g0059 a0002c0005t0001g0271 a0002c0005t0001g0272 a0002c0005t0002g0029 a0003c0006t0001g0233 a0003c0006t0001g0303 a0003c0006t0001g0314 a0003c0006t0001g0329 a0006c0013t0001g0317	130	432	0.3009	46	c.507 others(61): Show c.507-157_507-112dupGGGTGGGGGTGCCTGTCCCCATCCCCAGCC AGGGTCCCTGGTGAGT	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding	5/8			chr19	TogoVar
RNF126_chr19_642526_668214	650043	C C	CACTCACC others(39): Show CACTCACCAGGGGCCCAGGCTGGGGATGGGGACAGGCACCCCCTCCT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0398 a0001c0001t0001g0398	1	432	0.0023	46	c.506 others(61): Show c.506+145_506+190dupAGGAGGGGGTGCCTGTCCCCATCCCCAGCC TGGGCCCCTGGTGAGT	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding	5/8			chr19	TogoVar
RNF126_chr19_642526_668214	650105	A A	AGGCTGGG others(39): Show AGGCTGGGGATGGGGACAGGCACCCCCTCCTACTCACCAGGGACCCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01516.hp1 HG01517.hp2 others(9): Show HG01167.hp1 HG01516.hp1 HG01517.hp2 HG02698.hp2 HG04184.hp1 NA18967.hp2 NA18972.hp2 NA18975.hp1 NA18997.hp1 NA19010.hp1 NA19083.hp1 NA20752.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0070 a0001c0004t0004g0102 a0001c0004t0004g0164 others(9): Show a0001c0004t0004g0070 a0001c0004t0004g0102 a0001c0004t0004g0164 a0001c0004t0004g0179 a0001c0004t0004g0296 a0001c0004t0004g0338 a0001c0004t0004g0365 a0001c0004t0004g0366 a0001c0004t0004g0370 a0001c0004t0004g0372 a0001c0004t0004g0376 a0001c0004t0004g0377	12	425	0.0282	46	c.506 others(60): Show c.506+83_506+128dupAGGGTCCCTGGTGAGTAGGAGGGGGTGCCTG TCCCCATCCCCAGCC	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding	5/8			chr19	TogoVar
RNF130_chr5_179950067_180076759	180015607	G G	GGGAAAGG others(39): Show GGGAAAGGAGTAGGAAAGGAGTAGGGAAAGGAGTAGGGAAAGGAGTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(120): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00609.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02602.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02896.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03195.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp2 NA18939.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18987.hp1 NA18989.hp2 NA18995.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19091.hp1 NA20129.hp2 NA20805.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0002c0010 a0004c0009 a0005c0008	a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 a0002c0010t0001 a0004c0009t0001 a0005c0008t0001	a0001c0001t0001g0199 a0001c0001t0001g0237 a0001c0001t0001g0244 others(120): Show a0001c0001t0001g0199 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0331 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0007t0001g0008 a0002c0010t0001g0031 a0004c0009t0001g0014 a0005c0008t0001g0128	123	307	0.4007	46	c.443 others(63): Show c.443-2297_443-2296insTACTCCTTTCCCTACTCCTTTCCCTACT CCTTTCCTACTCCTTTCC	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	2/8			chr5	TogoVar
RNF130_chr5_179950067_180076759	180015619	G G	GGGAAAGG others(39): Show GGGAAAGGAGTAGGAAAGGAGTAGGGAAAGGAGTAGGGAAAGGAGTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02109.hp1 others(4): Show HG01884.hp1 HG02055.hp1 HG02109.hp1 HG02818.hp1 HG03041.hp2 HG03516.hp1 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0013 a0001c0001 a0003c0013	a0001c0001t0001 a0001c0001t0002 a0003c0013t0001 a0001c0001t0001 a0001c0001t0002 a0003c0013t0001	a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 others(4): Show a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0002g0243 a0003c0013t0001g0209	7	293	0.0239	46	c.443 others(63): Show c.443-2309_443-2308insTACTCCTTTCCCTACTCCTTTCCCTACT CCTTTCCTACTCCTTTCC	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	2/8			chr5	TogoVar
RNF141_chr11_10506673_10546187	10539687	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0051 a0001c0001t0006g0051	1	355	0.0028	46	c.-48 others(63): Show c.-48+1434_-48+1435insATATATATATATATATATATATATATAT ATATATATATATATATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF141_chr11_10506673_10546187	10539691	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18969.hp2 NA18998.hp1 NA18953.hp1 NA18969.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0203 a0001c0001t0002g0036 a0001c0001t0002g0203	3	20	0.1500	46	c.-48 others(63): Show c.-48+1430_-48+1431insATATATATATATATATATATATATATAT ATATATATATATATATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF148_chr7_122696668_122707922	122705958	A A	ATTATATA others(39): Show ATTATATAATATAATATATATTATATATTATATAATATAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	411	0.0024	46	c.-32 others(57): Show c.-3209_-3208insATATATATTATATTATATAATATATAATATATAT TATATTATATAA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		3037		chr7	TogoVar
RNF150_chr4_140854807_141138469	140999993	A A	AGAAGAAG others(39): Show AGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGGAGGAGGAGAAGAAG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03831.hp1 HG03710.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0046 a0001c0001t0026 a0001c0001t0046	a0001c0001t0026g0142 a0001c0001t0046g0148 a0001c0001t0026g0142 a0001c0001t0046g0148	2	129	0.0155	46	c.485 others(65): Show c.485-32121_485-32120insCTTCTTCTCCTCCTCCTCCTCCTCCT CCTTCTTCTTCTTCTTCTTC	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6			chr4	TogoVar
RNF152_chr18_61803067_61898007	61844078	G G	GAAAGAAA others(39): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0109 a0001c0002t0005g0109	1	306	0.0033	46	c.-13 others(67): Show c.-135-27526_-135-27481dupTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT	RNF152	ENSG00000176641.11	transcript	ENST00000312828.4	protein_coding	1/1			chr18	TogoVar
RNF17_chr13_24759169_24884921	24881982	A A	ATATATAG others(39): Show ATATATAGATACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0349 a0002c0003t0001g0349	1	410	0.0024	46	c.22 others(57): Show c.2256_*2257insTATATAGATACATCTATATATAGATACATCTATA TATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2062		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882088	A A	ATATATAG others(39): Show ATATATAGATACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01074.hp2 HG02257.hp2 others(1): Show HG00738.hp2 HG01074.hp2 HG02257.hp2 HG02559.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0013 a0003c0007t0001g0015 a0003c0007t0001g0017 others(1): Show a0003c0007t0001g0013 a0003c0007t0001g0015 a0003c0007t0001g0017 a0003c0007t0001g0018	4	421	0.0095	46	c.23 others(57): Show c.2362_*2363insTATATAGATACATCTATATATAGATACATCTATA TATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2168		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882089	T T	TATAGATA others(39): Show TATAGATACATCTATATAGATACATCTATATAGATACATCTATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 NA18986.hp2 HG02004.hp2 NA18986.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0205 a0003c0006t0001g0178 a0001c0001t0001g0205 a0003c0006t0001g0178	2	190	0.0105	46	c.23 others(57): Show c.2363_*2364insATAGATACATCTATATAGATACATCTATATAGAT ACATCTATATAG	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2169		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882111	G G	GATACATC others(39): Show GATACATCTATATAGATACATCTATATAGATATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	413	0.0024	46	c.23 others(57): Show c.2385_*2386insATACATCTATATAGATACATCTATATAGATATAT AGATACATCTAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2191		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882133	G G	GATATATA others(39): Show GATATATAGATACATCTATATAGATACATCTATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0181 a0003c0006t0001g0181	1	67	0.0149	46	c.24 others(57): Show c.2407_*2408insATATATAGATACATCTATATAGATACATCTATAT AGATACATCTAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2213		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882169	G G	GATATATA others(39): Show GATATATACATCTATATAGATACATCTATATAGATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	82	0.0122	46	c.24 others(57): Show c.2443_*2444insATATATACATCTATATAGATACATCTATATAGAT AGATACATCTAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2249		chr13	TogoVar
RNF180_chr5_64160843_64377869	64230348	G G	GACATAAC others(39): Show GACATAACATAACATAAACATAACATAACAAACATAAAATAAAATTA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	248	0.0040	46	c.122 others(67): Show c.1227+12952_1227+12953insACATAACATAACATAAACATAACA TAACAAACATAAAATAAAATTA	RNF180	ENSG00000164197.12	transcript	ENST00000389100.9	protein_coding	5/7			chr5	TogoVar
RNF216_chr7_5615047_5786663	5768346	T T	TACACACA others(39): Show TACACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA19030.hp2 NA18972.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0035 a0001c0001t0002 a0001c0001t0035	a0001c0001t0002g0261 a0001c0001t0035g0204 a0001c0001t0002g0261 a0001c0001t0035g0204	2	25	0.0800	46	c.-69 others(63): Show c.-69-7254_-69-7209dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGT	RNF216	ENSG00000011275.19	transcript	ENST00000389902.8	protein_coding	1/16			chr7	TogoVar
RNF8_chr6_37348983_37399734	37386178	A A	ACCTTATT others(39): Show ACCTTATTGGCACTTTGAAATGACAAGGTGCCAATCACTCTTATTGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02738.hp1 HG00280.hp2 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	2	322	0.0062	46	c.144 others(65): Show c.1442-4563_1442-4562insCTTATTGGCACTTTGAAATGACAAGG TGCCAATCACTCTTATTGGC	RNF8	ENSG00000112130.17	transcript	ENST00000373479.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ROCK1_chr18_20941906_21116813	20958934	A A	ATATAAAA others(39): Show ATATAAAAAATAATATATATTTTATATAATATATATAATATATATTT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	163	0.0061	46	c.351 others(63): Show c.3512+905_3512+906insAAATATATATTATATATATTATATAAAA TATATATTATTTTTTATA	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32			chr18	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(39): Show GAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGGGGGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0082 a0002c0002t0002g0082	1	217	0.0046	46	c.142 others(63): Show c.142-8255_142-8254insTCTCTCTCTCTCCCCCTCTCTCTCTCTC TCCTCTCTCTCTCTCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGGGAGAG others(39): Show GGGGAGAGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	46	0.0217	46	c.142 others(63): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCCCCCTCTCCC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROGDI_chr16_4791968_4807633	4804933	C C	CTGTGTGT others(39): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	162	0.0062	46	c.-23 others(57): Show c.-2363_-2362insCACACACACACACACACACACACACACACACACA CACACACACACA	ROGDI	ENSG00000067836.13	transcript	ENST00000322048.12	protein_coding		2301		chr16	TogoVar
ROR1_chr1_63769017_64186498	64014713	C C	CTATATAT others(39): Show CTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0056 a0001c0002t0006g0056	1	69	0.0145	46	c.163 others(63): Show c.163+5351_163+5352insTATATATATATATATATATATATATATA TATATATATATATATATA	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
RORA_chr15_60483284_61234302	61053848	G G	GATATATA others(39): Show GATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02451.hp1 NA19043.hp1 HG02165.hp2 HG02451.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0012 a0001c0005t0025 a0001c0001t0002 a0001c0001t0012 a0001c0005t0025	a0001c0001t0002g0059 a0001c0001t0012g0025 a0001c0005t0025g0100 a0001c0001t0002g0059 a0001c0001t0012g0025 a0001c0005t0025g0100	3	9	0.3333	46	c.166 others(67): Show c.166+175204_166+175205insATATATATATATATATATATATAT ATATATATATATATATATATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	61053860	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0077 a0001c0003t0015g0077	1	118	0.0085	46	c.166 others(67): Show c.166+175192_166+175193insTTATATATATATATATATATATAT ATATATATATATATATATATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPA2_chr1_27886524_27919575	27916916	C C	CCCTCCCT others(39): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0130	1	337	0.0030	46	c.-24 others(57): Show c.-2474_-2473insAAGGAAGGAGGAAGGAGGAAGGAAGGAAGGGAGG GAGGGAGGGAGG	RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding		2342		chr1	TogoVar
RPA2_chr1_27886524_27919575	27916994	T T	TCCTCCTT others(39): Show TCCTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 NA18993.hp1 NA19000.hp1 HG02738.hp1 NA18993.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0067 a0001c0001t0001g0077 a0001c0001t0001g0001 a0001c0001t0001g0067 a0001c0001t0001g0077	3	358	0.0084	46	c.-25 others(57): Show c.-2552_-2551insGAGGGAGGAAGGAGGAAGGAAGGAAGGGAGGGAG GAAGGAAGGAGG	RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding		2420		chr1	TogoVar
RPF2_chr6_110977038_111033263	110994734	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0262 a0002c0002t0009g0262	1	213	0.0047	46	c.235 others(63): Show c.235-2448_235-2447insTATATATATATATATATATATATATATA TATATATATATATACACA	RPF2	ENSG00000197498.13	transcript	ENST00000441448.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GGAGAGAG others(39): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00642.hp2 HG01069.hp2 HG01433.hp1 others(4): Show HG00642.hp2 HG01069.hp2 HG01433.hp1 HG01516.hp1 HG02738.hp1 HG03669.hp2 NA18939.hp1	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0001 a0001c0002 a0005c0008 others(1): Show a0001c0001 a0001c0002 a0005c0008 a0009c0011	a0001c0001t0045 a0001c0001t0180 a0001c0002t0044 others(3): Show a0001c0001t0045 a0001c0001t0180 a0001c0002t0044 a0001c0002t0178 a0005c0008t0179 a0009c0011t0044	a0001c0001t0045g0005 a0001c0001t0045g0201 a0001c0001t0180g0127 others(4): Show a0001c0001t0045g0005 a0001c0001t0045g0201 a0001c0001t0180g0127 a0001c0002t0044g0175 a0001c0002t0178g0031 a0005c0008t0179g0012 a0009c0011t0044g0093	7	13	0.5385	46	c.-24 others(55): Show c.-247_-246insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36413	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPL23_chr17_38842860_38858721	38848307	C C	CAGCTCAC others(39): Show CAGCTCACTTGCAACCTATGAAATAGAGAAAAAAAAAGAGAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0023 a0001c0001t0024g0023	1	416	0.0024	46	c.18 others(57): Show c.1824_*1825insTTTTTTTCTCTTTTTTTTTCTCTATTTCATAGGT TGCAAGTGAGCT	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding	5/5	1824		chr17	TogoVar
RPL38_chr17_74198678_74215655	74199262	G G	GAGAGAGA others(39): Show GAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG02074.hp1 NA18947.hp2 others(2): Show HG00558.hp1 HG02074.hp1 NA18947.hp2 NA19005.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0004g0002 a0001c0001t0001g0001 a0001c0001t0004g0002	5	374	0.0134	46	c.-45 others(57): Show c.-4522_-4521insAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAA	RPL38	ENSG00000172809.13	transcript	ENST00000311111.11	protein_coding		4415		chr17	TogoVar
RPL38_chr17_74198678_74215655	74199262	G G	GAGAGAGA others(39): Show GAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG03239.hp1 HG03927.hp1 HG01192.hp2 HG03239.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0001 a0001c0001t0004g0005 a0001c0001t0002g0001 a0001c0001t0004g0005	3	372	0.0081	46	c.-45 others(57): Show c.-4522_-4521insAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAA AGAAAGAAAGAA	RPL38	ENSG00000172809.13	transcript	ENST00000311111.11	protein_coding		4415		chr17	TogoVar
RPL4_chr15_66493015_66509855	66509840	T T	TTTCATGA others(39): Show TTTCATGAATGAGAAGCTGTAATATCTATAATTATGTGTGTGTGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG03688.hp1 HG01515.hp2 HG01517.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0011 a0001c0001t0006g0011	3	426	0.0070	46	c.-50 others(57): Show c.-5051_-5050insCCACACACACACATAATTATAGATATTACAGCTT CTCATTCATGAA	RPL4	ENSG00000174444.15	transcript	ENST00000307961.11	protein_coding		4986		chr15	TogoVar
RPL5_chr1_92827040_92846924	92846811	A A	ATGTGTGT others(39): Show ATGTGTGTATATATATATATATGTATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0040 a0001c0003t0001g0040	1	312	0.0032	46	c.49 others(57): Show c.4946_*4947insTGTGTGTATATATATATATATGTATATATATATA TATATATATATG	RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding		4888		chr1	TogoVar
RPL5_chr1_92827040_92846924	92846819	A A	ATATATAT others(39): Show ATATATATATGTGTGTGTATATATATATATATATATACACACACACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	316	0.0032	46	c.49 others(57): Show c.4954_*4955insTATATATATGTGTGTGTATATATATATATATATA TACACACACACG	RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding		4896		chr1	TogoVar
RPN1_chr3_128614969_128655818	128621837	T T	TAGGTTCA others(39): Show TAGGTTCATTTTACCACAACATAAGCAGCCTGGGACCTAGAACAGTC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0231 a0001c0002t0003g0231	1	386	0.0026	46	c.164 others(63): Show c.1641+281_1641+326dupGACTGTTCTAGGTCCCAGGCTGCTTATG TTGTGGTAAAATGAACCT	RPN1	ENSG00000163902.12	transcript	ENST00000296255.8	protein_coding	9/9			chr3	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTAT others(39): Show GTGTGTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	8	0.1250	46	c.790 others(65): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATATATATATACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar

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