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.

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
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(24): Show ATATATATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18974.hp2 NA18993.hp2 NA18950.hp2 NA18974.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0147 a0001c0001t0001g0160 a0001c0001t0001g0161	3	306	0.0098	31	c.-35 others(42): Show c.-3577_-3576insTATATATTTTTTTTTTTTTTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATTT others(24): Show ATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19058.hp1 NA19003.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0030 a0001c0001t0001g0003 a0001c0001t0001g0030	2	306	0.0065	31	c.-35 others(42): Show c.-3577_-3576insTATATTTTTTTTTTTTTTTTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATTTTT others(24): Show ATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	306	0.0033	31	c.-35 others(42): Show c.-3577_-3576insTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RBCK1_chr20_403299_437139	417662	C C	CCTTTCAC others(24): Show CCTTTCACTCCTGCTTCCTCTCTCTCCTCTGG	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	452	0.0022	31	c.261 others(44): Show c.261+45_262-38dupTTTCACTCCTGCTTCCTCTCTCTCCTCTGGC	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBFOX1_chr16_6014024_7718340	6806837	T T	TAAATATA others(24): Show TAAATATATATATATATTTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03540.hp1 NA19240.hp1 HG02965.hp1 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0001t0018 a0001c0002t0038 a0001c0001t0011 a0001c0001t0018 a0001c0002t0038	a0001c0001t0011g0035 a0001c0001t0018g0052 a0001c0002t0038g0023 a0001c0001t0011g0035 a0001c0001t0018g0052 a0001c0002t0038g0023	3	68	0.0441	31	c.-16 others(52): Show c.-16+152187_-16+152188insAAATATATATATATATTTATATAT ATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15			chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7186994	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0035 a0001c0001t0011g0035	1	68	0.0147	31	c.27+ others(50): Show c.27+134920_27+134921insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7610118	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0055 a0001c0003t0005g0055	1	234	0.0043	31	c.736 others(48): Show c.736+2801_736+2802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79170143	A A	AGGAGGAA others(24): Show AGGAGGAAGGAGGAAGGAAGGGAGGAGGAAGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03098.hp1 HG01884.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0067 a0001c0001t0004g0115 a0001c0001t0001g0067 a0001c0001t0004g0115	2	154	0.0130	31	c.-33 others(50): Show c.-33-54396_-33-54395insCCTTCCTCCTCCCTTCCTTCCTCCTT CCTCC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611130	T T	TCTCTCTC others(24): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00558.hp1 others(3): Show HG00140.hp1 HG00140.hp2 HG00558.hp1 HG01071.hp2 HG02129.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0009 a0001c0001t0001 a0001c0001t0003 a0001c0002t0009	a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0050 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0003g0032 a0001c0001t0003g0046 a0001c0002t0009g0041	6	154	0.0390	31	c.-62 others(40): Show c.-625_-624insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		80		chr17	TogoVar
RBL1_chr20_36991349_37100997	37002336	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02027.hp2 NA18949.hp1 others(2): Show HG01978.hp2 HG02027.hp2 NA18949.hp1 NA18973.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0017 a0001c0001t0002 a0001c0001t0007 a0001c0001t0017	a0001c0001t0002g0285 a0001c0001t0002g0314 a0001c0001t0002g0341 others(2): Show a0001c0001t0002g0285 a0001c0001t0002g0314 a0001c0001t0002g0341 a0001c0001t0007g0313 a0001c0001t0017g0343	5	354	0.0141	31	c.303 others(50): Show c.3036+1365_3036+1366insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	RBL1	ENSG00000080839.12	transcript	ENST00000373664.8	protein_coding	21/21			chr20	TogoVar
RBL2_chr16_53429471_53496648	53457258	C C	CCTTTTTT others(24): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02486.hp1 HG02965.hp1 HG00738.hp1 HG02486.hp1 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0003 a0002c0004t0003 a0001c0003t0003 a0002c0004t0003	a0001c0003t0003g0135 a0001c0003t0003g0176 a0002c0004t0003g0181 a0001c0003t0003g0135 a0001c0003t0003g0176 a0002c0004t0003g0181	3	276	0.0109	31	c.118 others(50): Show c.1180-2193_1180-2192insCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	RBL2	ENSG00000103479.17	transcript	ENST00000262133.11	protein_coding	8/21			chr16	TogoVar
RBM10_chrX_47140221_47191813	47148585	T T	TATGTATC others(24): Show TATGTATCCTTCTATGATACATATCATAGAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	226	0.0044	31	c.17+ others(46): Show c.17+1436_17+1466dupCTTCTATGATACATATCATAGAAAATGTAT C	RBM10	ENSG00000182872.16	transcript	ENST00000377604.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chrX	TogoVar
RBM20_chr10_110639336_110844468	110737177	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0004 a0001c0003t0004g0004	1	268	0.0037	31	c.192 others(50): Show c.192-43604_192-43603insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	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(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	268	0.0037	31	c.180 others(50): Show c.1801-1151_1801-1150insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	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(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0200 a0002c0002t0001g0200	1	362	0.0028	31	c.67- others(44): Show c.67-557_67-556insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RBM23	ENSG00000100461.18	transcript	ENST00000359890.8	protein_coding	2/13			chr14	TogoVar
RBM27_chr5_146198605_146294223	146211464	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	272	0.0037	31	c.60- others(46): Show c.60-7491_60-7490insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	RBM27	ENSG00000091009.8	transcript	ENST00000265271.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr5	TogoVar
RBM33_chr7_155639661_155786480	155673940	G G	GTTGTTGT others(24): Show GTTGTTGTTTGTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02970.hp2 HG01884.hp2 HG02970.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0032 a0002c0001t0109 a0002c0001t0032 a0002c0001t0109	a0002c0001t0032g0297 a0002c0001t0109g0299 a0002c0001t0032g0297 a0002c0001t0109g0299	2	306	0.0065	31	c.171 others(48): Show c.171+1027_171+1028insGTTGTTTGTTTTTTTTTTTTTTTTTTTT TTT	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(24): Show GTTGTTGTTTTTTTTTTGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0022 a0003c0007t0022	a0003c0007t0022g0289 a0003c0007t0022g0289	1	306	0.0033	31	c.171 others(48): Show c.171+1027_171+1028insGTTGTTTTTTTTTTGTTTTTTTTTTTTT TTT	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM33_chr7_155639661_155786480	155716316	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0021	a0001c0004t0021g0149 a0001c0004t0021g0149	1	306	0.0033	31	c.120 others(50): Show c.1202-2053_1202-2052insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM42_chr19_35624036_35642685	35638908	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	428	0.0023	31	c.13 others(42): Show c.1354_*1355insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RBM42	ENSG00000126254.12	transcript	ENST00000262633.9	protein_coding		1224		chr19	TogoVar
RBM47_chr4_40418280_40634864	40437091	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATAAAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0122 a0002c0007t0122	a0002c0007t0122g0232 a0002c0007t0122g0232	1	278	0.0036	31	c.112 others(48): Show c.1124-445_1124-444insATTTATATATATATATATATATTTTTTT TTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40437098	T T	TATATATA others(24): Show TATATATATATATATATATATATAAAAAATAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0024 a0001c0001t0084g0024	1	278	0.0036	31	c.112 others(48): Show c.1124-452_1124-451insGTATTTTTTATATATATATATATATATA TAT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40573807	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG01071.hp2 others(23): Show HG00140.hp1 HG00558.hp2 HG01071.hp2 HG01106.hp2 HG01346.hp2 HG01433.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02055.hp1 HG02083.hp2 HG02145.hp2 HG02717.hp1 HG02895.hp2 HG03130.hp2 HG03516.hp1 HG03704.hp2 HG03834.hp1 HG06807.hp1 NA18953.hp1 NA18955.hp1 NA18993.hp1 NA19003.hp1 NA19030.hp2 NA19079.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(4): Show a0001c0001 a0001c0003 a0001c0006 a0001c0014 a0001c0016 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0025 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0048 a0001c0001t0085 a0001c0001t0098 a0001c0001t0109 a0001c0001t0127 a0001c0001t0132 a0001c0003t0016 a0001c0003t0033 a0001c0003t0045 a0001c0003t0054 a0001c0003t0104 a0001c0006t0012 a0001c0014t0005 a0001c0016t0012 a0002c0002t0129 a0002c0005t0101	a0001c0001t0001g0188 a0001c0001t0003g0066 a0001c0001t0005g0094 others(23): Show a0001c0001t0001g0188 a0001c0001t0003g0066 a0001c0001t0005g0094 a0001c0001t0006g0052 a0001c0001t0010g0008 a0001c0001t0025g0073 a0001c0001t0039g0051 a0001c0001t0040g0114 a0001c0001t0041g0159 a0001c0001t0048g0269 a0001c0001t0085g0200 a0001c0001t0098g0202 a0001c0001t0109g0197 a0001c0001t0127g0261 a0001c0001t0132g0245 a0001c0003t0016g0038 a0001c0003t0016g0142 a0001c0003t0033g0016 a0001c0003t0045g0025 a0001c0003t0054g0150 a0001c0003t0104g0020 a0001c0006t0012g0045 a0001c0014t0005g0096 a0001c0016t0012g0032 a0002c0002t0129g0226 a0002c0005t0101g0156	26	278	0.0935	31	c.-23 others(52): Show c.-239-29302_-239-29301insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBMS1_chr2_160267151_160498807	160426290	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18988.hp2 HG04228.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0175 a0001c0001t0005g0288 a0001c0001t0002g0175 a0001c0001t0005g0288	2	328	0.0061	31	c.76- others(48): Show c.76-58900_76-58899insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS1_chr2_160267151_160498807	160471691	G G	GTATATAT others(24): Show GTATATATATATATATATATATATATATATTA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0059	1	328	0.0031	31	c.75+ others(48): Show c.75+21597_75+21598insTAATATATATATATATATATATATATAT ATA	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS3_chr3_29276071_30015386	29482697	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0078 a0001c0001t0014g0078	1	116	0.0086	31	c.249 others(48): Show c.249-5741_249-5740insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	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(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0064 a0001c0001t0016g0064	1	116	0.0086	31	c.308 others(48): Show c.308-8302_308-8301insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29930109	C C	CTTTCTTT others(24): Show CTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01928.hp2 HG01361.hp1 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0002t0004 a0001c0001t0016 a0001c0002t0004	a0001c0001t0016g0064 a0001c0002t0004g0092 a0001c0001t0016g0064 a0001c0002t0004g0092	2	116	0.0172	31	c.940 others(48): Show c.940-5974_940-5973insCTTTCTTTTTTTTTTTTTTTTTTTTTTT TTT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBPJL_chr20_45301840_45322824	45305805	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19081.hp2 NA19043.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0002t0001g0011 a0001c0001t0001g0002 a0001c0002t0001g0011	2	446	0.0045	31	c.-11 others(42): Show c.-1118_-1117insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RBPJL	ENSG00000124232.11	transcript	ENST00000343694.8	protein_coding		1034		chr20	TogoVar
RBPMS_chr8_30379541_30577256	30381667	A A	AAAAATAA others(24): Show AAAAATAACTGAGCGCCTCCTATGTGTTGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	304	0.0033	31	c.-34 others(42): Show c.-3426_-3425insAAAATAACTGAGCGCCTCCTATGTGTTGGGC	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding		2873		chr8	TogoVar
RBX1_chr22_40946378_40978309	40961081	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	320	0.0031	31	c.158 others(48): Show c.158-2943_158-2942insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RBX1	ENSG00000100387.9	transcript	ENST00000216225.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
RCAN3_chr1_24497836_24546040	24530356	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18985.hp1 HG04204.hp1 NA18985.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0033 a0001c0003t0015 a0001c0003t0033	a0001c0003t0015g0188 a0001c0003t0033g0205 a0001c0003t0015g0188 a0001c0003t0033g0205	2	332	0.0060	31	c.196 others(46): Show c.196-839_196-838insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	RCAN3	ENSG00000117602.13	transcript	ENST00000374395.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
RCBTB2_chr13_48483963_48538080	48493329	T T	TCCACACA others(24): Show TCCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02486.hp2 others(2): Show HG01069.hp1 HG01071.hp2 HG02486.hp2 HG02723.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0017 a0001c0003t0003g0018 a0001c0003t0003g0019 others(2): Show a0001c0003t0003g0017 a0001c0003t0003g0018 a0001c0003t0003g0019 a0001c0003t0003g0020 a0001c0003t0003g0021	5	320	0.0156	31	c.151 others(50): Show c.1515+2861_1515+2862insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGG	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	14/14			chr13	TogoVar
RCC2_chr1_17401760_17444677	17431357	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0230 a0001c0001t0010g0230	1	390	0.0026	31	c.286 others(48): Show c.286-2159_286-2158insATATATATATATATATATATATATATAT ATA	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02735.hp1 HG02015.hp2 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0139 a0001c0002t0005g0155 a0001c0002t0002g0139 a0001c0002t0005g0155	2	390	0.0051	31	c.286 others(48): Show c.286-2161_286-2160insATATATATATATATATATATATATATAT TTT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AAATATAT others(24): Show AAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0143 a0001c0002t0002g0143	1	390	0.0026	31	c.286 others(48): Show c.286-2161_286-2160insATATATATATATATATATATATATATAT ATT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	ATAAAAAT others(24): Show ATAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03486.hp2 HG03704.hp1 others(3): Show HG02886.hp2 HG03486.hp2 HG03704.hp1 NA18990.hp2 NA19084.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0025 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0025 a0001c0001t0029	a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0004g0013 others(2): Show a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0004g0013 a0001c0001t0025g0296 a0001c0001t0029g0241	6	390	0.0154	31	c.286 others(48): Show c.286-2161_286-2160insATATATATATATATATATATATATATTT TTA	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCSD1_chr1_167625232_167713696	167630721	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	350	0.0029	31	c.6+2 others(42): Show c.6+294_6+324dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RDH10_chr8_73289602_73330281	73315158	C C	CCCCCCCC others(24): Show CCCCCCCCCACCGGCCTCCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	396	0.0025	31	c.526 others(48): Show c.526-3938_526-3937insCCCCCCCCACCGGCCTCCTCTCTCTCTC TCT	RDH10	ENSG00000121039.10	transcript	ENST00000240285.10	protein_coding	2/5			chr8	TogoVar
RDX_chr11_110224441_110301614	110289956	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02015.hp2 HG03139.hp1 others(1): Show HG01123.hp2 HG02015.hp2 HG03139.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0234 others(1): Show a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0234 a0001c0001t0003g0229	4	376	0.0106	31	c.-65 others(48): Show c.-65+6510_-65+6511insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	1/13			chr11	TogoVar
REC114_chr15_73438164_73565013	73491234	C C	CTATCTTT others(24): Show CTATCTTTGTGTATTATCTTAATTTTTTGTAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp1 others(175): Show HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18961.hp1 NA18961.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0001c0004t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(175): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0038 a0001c0001t0002g0095 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0188 a0001c0001t0003g0061 a0001c0001t0004g0023 a0001c0001t0005g0027 a0001c0001t0006g0046 a0001c0003t0001g0009 a0001c0004t0002g0085 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0002g0106 a0002c0002t0002g0108 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0174 a0002c0002t0002g0181	178	188	0.9468	31	c.249 others(50): Show c.249+17339_249+17369dupTTGTATTATCTTTGTGTATTATCTTA ATTTT	REC114	ENSG00000183324.11	transcript	ENST00000331090.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
RELB_chr19_44996464_45043192	45017449	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18906.hp1 HG02572.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0330 a0001c0001t0001g0125 a0001c0001t0001g0330	2	382	0.0052	31	c.505 others(48): Show c.505-4590_505-4589insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
REPS1_chr6_138898493_138993253	138969269	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp2 HG00323.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0001 a0001c0001t0029	a0001c0001t0001g0109 a0001c0001t0029g0382 a0001c0001t0001g0109 a0001c0001t0029g0382	2	390	0.0051	31	c.153 others(50): Show c.153+18260_153+18261insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	1/19			chr6	TogoVar
REPS2_chrX_16941658_17158272	17050195	T T	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	166	0.0060	31	c.908 others(48): Show c.908-2185_908-2184insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RERE_chr1_8347404_8822640	8516227	G G	GAAAAAAA others(24): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02451.hp1 HG02155.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0030 a0001c0002t0002 a0001c0001t0030 a0001c0002t0002	a0001c0001t0030g0143 a0001c0002t0002g0163 a0001c0001t0030g0143 a0001c0002t0002g0163	2	204	0.0098	31	c.831 others(48): Show c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8607534	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0078 a0001c0003t0004g0078	1	204	0.0049	31	c.522 others(48): Show c.522+7026_522+7027insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8677425	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0026 a0001c0005t0026	a0001c0005t0026g0127 a0001c0005t0026g0127	1	204	0.0049	31	c.-14 others(52): Show c.-144-20985_-144-20984insCTTTTCTTTCTTTCTTTTTTTTTT TTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8677425	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0002 a0001c0002t0018g0002	1	204	0.0049	31	c.-14 others(52): Show c.-144-20985_-144-20984insCTTTTCTTTCTTTCTTTCTTTTTT TTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0088	1	204	0.0049	31	c.-14 others(52): Show c.-145+27858_-145+27859insATATATATATATATATTTTTTTTT TTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
REST_chr4_56902900_56940844	56905329	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 NA18963.hp1 HG01109.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0145 a0001c0001t0011g0070 a0001c0001t0003g0145 a0001c0001t0011g0070	2	408	0.0049	31	c.-28 others(42): Show c.-2894_-2893insTATATATATATATATATATATATATATATAT	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2570		chr4	TogoVar

Search by Variant

Search

Search Results (Total: 5228 hits)