Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RNF10_chr12_120529356_120582588	120553038	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA18522.hp2 NA19240.hp2 HG02004.hp1 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0301 a0001c0001t0001g0014 a0001c0001t0001g0301	3	372	0.0081	-25	c.554 others(40): Show c.554+379_554+403delTTTTTTTTTTTTTTTTTTTTTTTTT	RNF10	ENSG00000022840.17	transcript	ENST00000325954.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNF130_chr5_179950067_180076759	179967438	ATCTGGTA others(18): Show ATCTGGTAGTCAGTTTTTAAGTATGG	A A	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19012.hp1 NA18983.hp2 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0102 a0001c0002t0001g0025 a0001c0002t0001g0102	2	340	0.0059	-25	c.946 others(40): Show c.946-453_946-429delCCATACTTAAAAACTGACTACCAGA	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	6/8			chr5	TogoVar
RNF135_chr17_30966039_31004911	30990468	GAGCCACT others(18): Show GAGCCACTGCACTCCAGTGTGGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	266	0.0038	-25	c.679 others(42): Show c.679+2363_679+2387delAGCCACTGCACTCCAGTGTGGGTGA	RNF135	ENSG00000181481.14	transcript	ENST00000328381.10	protein_coding	3/4			chr17	TogoVar
RNF145_chr5_159152409_159214553	159165682	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01255.hp2 HG00323.hp1 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0250 a0001c0001t0002g0251	2	394	0.0051	-25	c.112 others(44): Show c.1122-2628_1122-2604delTTTTTTTTTTTTTTTTTTTTTTTTT	RNF145	ENSG00000145860.13	transcript	ENST00000424310.7	protein_coding	8/10			chr5	TogoVar
RNF145_chr5_159152409_159214553	159165709	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0191 a0001c0003t0002g0191	1	394	0.0025	-25	c.112 others(44): Show c.1122-2655_1122-2631delATTTTTTTTTTTTTTTTTTTTTTTT	RNF145	ENSG00000145860.13	transcript	ENST00000424310.7	protein_coding	8/10			chr5	TogoVar
RNF17_chr13_24759169_24884921	24813793	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01257.hp2 HG02897.hp1 others(1): Show HG01167.hp1 HG01257.hp2 HG02897.hp1 HG02976.hp2	a0002 a0003 a0011 others(1): Show a0002 a0003 a0011 a0013	a0002c0003 a0003c0006 a0011c0012 others(1): Show a0002c0003 a0003c0006 a0011c0012 a0013c0016	a0002c0003t0001 a0003c0006t0001 a0011c0012t0001 others(1): Show a0002c0003t0001 a0003c0006t0001 a0011c0012t0001 a0013c0016t0001	a0002c0003t0001g0332 a0003c0006t0001g0176 a0011c0012t0001g0325 others(1): Show a0002c0003t0001g0332 a0003c0006t0001g0176 a0011c0012t0001g0325 a0013c0016t0001g0186	4	426	0.0094	-25	c.209 others(44): Show c.2091+9391_2091+9415delTTTTTTTTTTTTTTTTTTTTTTTTT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding	15/35		INFO_REALIGN_3_PRIME	chr13	TogoVar
RNF212B_chr14_23232936_23278477	23275675	TCCTCTTC others(18): Show TCCTCTTCTTCATCTAGACAAACTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	368	0.0027	-25	c.27 others(36): Show c.2785_*2809delCCTCTTCTTCATCTAGACAAACTAC	RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding		2199		chr14	TogoVar
RNF212B_chr14_23232936_23278477	23275725	AGAGTCAA others(18): Show AGAGTCAAACCAATCCAGCACCTGCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	368	0.0027	-25	c.28 others(36): Show c.2835_*2859delGAGTCAAACCAATCCAGCACCTGCT	RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding		2249		chr14	TogoVar
RNF216_chr7_5615047_5786663	5660265	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02155.hp1 HG02155.hp2 others(4): Show HG00738.hp1 HG02155.hp1 HG02155.hp2 HG02486.hp1 HG02559.hp2 HG03486.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0012 a0001c0011t0012 a0001c0001t0001 a0001c0001t0012 a0001c0011t0012	a0001c0001t0001g0015 a0001c0001t0001g0112 a0001c0001t0001g0224 others(4): Show a0001c0001t0001g0015 a0001c0001t0001g0112 a0001c0001t0001g0224 a0001c0001t0012g0195 a0001c0001t0012g0201 a0001c0001t0012g0251 a0001c0011t0012g0153	7	274	0.0256	-25	c.206 others(44): Show c.2062-7780_2062-7756delAAAAAAAAAAAAAAAAAAAAAAAAA	RNF216	ENSG00000011275.19	transcript	ENST00000389902.8	protein_coding	13/16			chr7	TogoVar
RNF216_chr7_5615047_5786663	5755189	GAAGGAAG others(18): Show GAAGGAAGGAAGGGAGGGAAGGAAGA	G G	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01952.hp2 HG03139.hp1 others(3): Show HG01928.hp2 HG01952.hp2 HG03139.hp1 HG03710.hp1 NA18995.hp2 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0037 a0001c0002t0001 a0001c0002t0003 a0001c0002t0037	a0001c0002t0001g0175 a0001c0002t0003g0168 a0001c0002t0003g0177 others(3): Show a0001c0002t0001g0175 a0001c0002t0003g0168 a0001c0002t0003g0177 a0001c0002t0003g0184 a0001c0002t0003g0187 a0001c0002t0037g0185	6	274	0.0219	-25	c.68- others(40): Show c.68-2235_68-2211delTCTTCCTTCCCTCCCTTCCTTCCTT	RNF216	ENSG00000011275.19	transcript	ENST00000389902.8	protein_coding	2/16			chr7	TogoVar
RNF223_chr1_1065967_1079306	1074747	TCCATACA others(18): Show TCCATACACATACGTGGCTGCTCTCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	-25	c.-76 others(34): Show c.-766_-742delTGAGAGCAGCCACGTATGTGTATGG	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		442		chr1	TogoVar
RNF224_chr9_137222502_137234640	137224438	CCGGGCGC others(18): Show CCGGGCGCGGTGGCTCACGCCTGTAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	394	0.0025	-25	c.-36 others(36): Show c.-3607_-3583delCGGGCGCGGTGGCTCACGCCTGTAA	RNF224	ENSG00000233198.4	transcript	ENST00000445101.4	protein_coding		3063		chr9	TogoVar
RNF2_chr1_185040558_185107603	185076268	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0287 a0001c0001t0004g0287	1	350	0.0029	-25	c.-2- others(42): Show c.-2-11268_-2-11244delTTTTTTTTTTTTTTTTTTTTTTTTT	RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF38_chr9_36331400_36405269	36395678	AATCTCTA others(18): Show AATCTCTAATATTTAAACTGACAAAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	402	0.0025	-25	c.12+ others(40): Show c.12+4394_12+4418delATTTGTCAGTTTAAATATTAGAGAT	RNF38	ENSG00000137075.18	transcript	ENST00000259605.11	protein_coding	1/11			chr9	TogoVar
RNFT2_chr12_116733315_116858631	116750826	TATAATAT others(18): Show TATAATATATATATTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01169.hp2 HG01261.hp1 others(7): Show HG01074.hp1 HG01169.hp2 HG01261.hp1 HG01361.hp1 HG01884.hp1 HG02818.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0004 a0001c0002t0012 others(6): Show a0001c0001t0002 a0001c0002t0004 a0001c0002t0012 a0001c0002t0021 a0001c0002t0062 a0001c0002t0063 a0001c0002t0064 a0001c0002t0065 a0001c0003t0016	a0001c0001t0002g0236 a0001c0002t0004g0268 a0001c0002t0012g0014 others(7): Show a0001c0001t0002g0236 a0001c0002t0004g0268 a0001c0002t0012g0014 a0001c0002t0012g0089 a0001c0002t0021g0139 a0001c0002t0062g0185 a0001c0002t0063g0263 a0001c0002t0064g0152 a0001c0002t0065g0093 a0001c0003t0016g0039	10	268	0.0373	-25	c.550 others(40): Show c.550+523_550+547delATATATATATTATATATATATAATA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNGTT_chr6_88604897_88968618	88947750	CCATCTGG others(18): Show CCATCTGGGATGTGAGGAGCGCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	220	0.0046	-25	c.65- others(40): Show c.65-6595_65-6571delAGAGGCGCTCCTCACATCCCAGATG	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	1/15			chr6	TogoVar
RNH1_chr11_489515_512242	494148	CGCTGGGC others(18): Show CGCTGGGCTGGGCTGGGCTGGGCTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01106.hp2 HG01515.hp2 others(1): Show HG00733.hp1 HG01106.hp2 HG01515.hp2 HG01993.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0029 a0003c0004t0003g0060 a0003c0004t0003g0029 a0003c0004t0003g0060	4	387	0.0103	-25	c.51 others(34): Show c.518_*542delCCAGCCCAGCCCAGCCCAGCCCAGC	RNH1	ENSG00000023191.17	transcript	ENST00000354420.7	protein_coding		366		chr11	TogoVar
RNMT_chr18_13721673_13769556	13728319	TTTTTTTT others(18): Show TTTTTTTTTTTTTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00735.hp1 others(43): Show HG00323.hp2 HG00639.hp1 HG00735.hp1 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG02080.hp2 HG02683.hp2 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03195.hp1 HG03225.hp2 HG03942.hp1 HG04204.hp1 NA18522.hp2 NA18946.hp2 NA18954.hp1 NA18955.hp1 NA18961.hp2 NA18971.hp1 NA18980.hp1 NA18986.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp2 NA19003.hp2 NA19004.hp1 NA19056.hp1 NA19058.hp2 NA19060.hp2 NA19081.hp1 NA19083.hp2 NA19088.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0012 a0001c0001t0041 others(1): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0041 a0003c0004t0002	a0001c0001t0002g0011 a0001c0001t0002g0020 a0001c0001t0002g0021 others(37): Show a0001c0001t0002g0011 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0012g0046 a0001c0001t0012g0070 a0001c0001t0041g0274 a0003c0004t0002g0019	46	376	0.1223	-25	c.-17 others(44): Show c.-172+1592_-172+1616delTTTTTTTTTTTGTGTGTGTGTGTGT	RNMT	ENSG00000101654.18	transcript	ENST00000383314.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
RNMT_chr18_13721673_13769556	13728321	TTTTTTTT others(18): Show TTTTTTTTTTTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG01070.hp1 others(4): Show HG00099.hp2 HG00738.hp2 HG01070.hp1 HG01256.hp1 HG03486.hp1 HG04199.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0089 a0001c0001t0002g0076 a0001c0001t0002g0077 others(4): Show a0001c0001t0001g0089 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081	7	376	0.0186	-25	c.-17 others(44): Show c.-172+1594_-172+1618delTTTTTTTTTGTGTGTGTGTGTGTGT	RNMT	ENSG00000101654.18	transcript	ENST00000383314.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ROBO1_chr3_78592239_79772998	78835800	GTTTCAAC others(18): Show GTTTCAACTAAAATTATTCCTATCTT	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0003 a0001c0007t0003g0003	1	44	0.0227	-25	c.500 others(44): Show c.500-88925_500-88901delAAGATAGGAATAATTTTAGTTGAAA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	4/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	78842187	TTATATGA others(18): Show TTATATGAGCCATATATATATTTATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03130.hp1 HG03225.hp1 others(2): Show HG01243.hp1 HG03130.hp1 HG03225.hp1 HG03490.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0005 a0001c0002t0003 a0001c0003t0001 others(2): Show a0001c0001t0005 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0007t0003	a0001c0001t0005g0035 a0001c0002t0003g0016 a0001c0003t0001g0023 others(2): Show a0001c0001t0005g0035 a0001c0002t0003g0016 a0001c0003t0001g0023 a0001c0003t0002g0033 a0001c0007t0003g0003	5	44	0.1136	-25	c.500 others(44): Show c.500-95312_500-95288delTATAAATATATATATGGCTCATATA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	4/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	78842306	ATTTATAT others(18): Show ATTTATATATATGAGCCATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0004 a0001c0005t0005g0004	1	44	0.0227	-25	c.500 others(44): Show c.500-95431_500-95407delAATATATATGGCTCATATATATAAA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	4/30			chr3	TogoVar
ROBO2_chr3_77035099_77654964	77090323	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	160	0.0063	-25	c.62- others(40): Show c.62-7667_62-7643delTTTTTTTTTTTTTTTTTTTTTTTTT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK1_chr18_20941906_21116813	21043551	TTATATGT others(18): Show TTATATGTATATACATATACATAATG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03098.hp1 HG02647.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0186 a0001c0001t0016g0187 a0001c0001t0016g0186 a0001c0001t0016g0187	2	212	0.0094	-25	c.675 others(40): Show c.675+526_675+550delCATTATGTATATGTATATACATATA	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	6/32			chr18	TogoVar
ROMO1_chr20_35694405_35705980	35702451	TGGCACAG others(18): Show TGGCACAGATGAGATTAACCACTAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01891.hp1 HG02109.hp1 others(7): Show HG01361.hp2 HG01891.hp1 HG02109.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02717.hp1 HG02886.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	10	352	0.0284	-25	c.15 others(36): Show c.1546_*1570delGGCACAGATGAGATTAACCACTAAA	ROMO1	ENSG00000125995.16	transcript	ENST00000374077.8	protein_coding		1472		chr20	TogoVar
ROR2_chr9_91717601_91955228	91718747	GTAGCTGC others(18): Show GTAGCTGCCATCCTGGGGGTGGTTTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02630.hp1 HG02976.hp2 others(2): Show HG01243.hp1 HG02630.hp1 HG02976.hp2 HG03453.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0006 a0001c0014t0006 a0001c0001t0006 a0001c0014t0006	a0001c0001t0006g0094 a0001c0001t0006g0212 a0001c0014t0006g0147 others(2): Show a0001c0001t0006g0094 a0001c0001t0006g0212 a0001c0014t0006g0147 a0001c0014t0006g0149 a0001c0014t0006g0152	5	226	0.0221	-25	c.48 others(36): Show c.4890_*4914delTAAACCACCCCCAGGATGGCAGCTA	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding		3853		chr9	TogoVar
RORA_chr15_60483284_61234302	60543170	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0027 a0001c0005t0004g0027	1	118	0.0085	-25	c.197 others(44): Show c.197-11344_197-11320delAAAAAAAAAAAAAAAAAAAAAAAAA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60597548	CAACATAT others(18): Show CAACATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0048 a0001c0001t0010g0048	1	118	0.0085	-25	c.197 others(44): Show c.197-65722_197-65698delATATATATATATATATATATATGTT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORA_chr15_60483284_61234302	61167482	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00639.hp2 others(41): Show HG00280.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01257.hp2 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG02055.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02559.hp2 HG02572.hp1 HG02647.hp1 HG02723.hp1 HG02738.hp1 HG02886.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG04115.hp2 NA18522.hp1 NA19003.hp1 NA19030.hp1 NA19043.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0002c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0024 a0001c0001t0037 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0002t0003 a0001c0002t0021 a0001c0003t0014 a0001c0003t0026 a0001c0003t0027 a0001c0004t0008 a0001c0004t0019 a0001c0005t0004 a0001c0006t0004 a0001c0007t0003 a0001c0008t0057 a0002c0009t0007	a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0104 others(41): Show a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0002g0030 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0005g0011 a0001c0001t0005g0019 a0001c0001t0006g0029 a0001c0001t0006g0052 a0001c0001t0006g0099 a0001c0001t0006g0111 a0001c0001t0007g0113 a0001c0001t0010g0088 a0001c0001t0011g0066 a0001c0001t0013g0072 a0001c0001t0013g0085 a0001c0001t0017g0098 a0001c0001t0024g0103 a0001c0001t0037g0105 a0001c0001t0042g0112 a0001c0001t0043g0087 a0001c0001t0044g0031 a0001c0001t0050g0062 a0001c0001t0052g0002 a0001c0001t0053g0094 a0001c0001t0054g0093 a0001c0002t0003g0017 a0001c0002t0003g0032 a0001c0002t0003g0080 a0001c0002t0003g0096 a0001c0002t0021g0018 a0001c0003t0014g0114 a0001c0003t0026g0007 a0001c0003t0027g0039 a0001c0004t0008g0095 a0001c0004t0019g0006 a0001c0005t0004g0027 a0001c0005t0004g0082 a0001c0006t0004g0001 a0001c0007t0003g0097 a0001c0008t0057g0008 a0002c0009t0007g0118	44	118	0.3729	-25	c.166 others(44): Show c.166+61546_166+61570delAAAAAAAAAAAAAAAAAAAAAAAAA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPEL1_chr10_103240887_103253016	103251305	TCACCACC others(18): Show TCACCACCACCTCTACCGCCATTCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	375	0.0027	-25	c.46 others(36): Show c.4623_*4647delCACCACCACCTCTACCGCCATTCAC	RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding		3290		chr10	TogoVar
RPH3AL_chr17_207389_357807	295029	ACAGAGAT others(18): Show ACAGAGATGCTGCAGAAATGGACGGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp1 HG02723.hp2 others(4): Show HG02559.hp2 HG02622.hp1 HG02723.hp2 HG03453.hp1 NA18522.hp1 NA18993.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0008 a0001c0001t0031 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0031 a0001c0003t0001 a0001c0003t0002 a0001c0006t0004	a0001c0001t0001g0043 a0001c0001t0001g0089 a0001c0001t0008g0113 others(4): Show a0001c0001t0001g0043 a0001c0001t0001g0089 a0001c0001t0008g0113 a0001c0001t0031g0067 a0001c0003t0001g0068 a0001c0003t0002g0059 a0001c0006t0004g0022	7	133	0.0526	-25	c.352 others(44): Show c.352-13200_352-13176delCCCGTCCATTTCTGCAGCATCTCTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPL14_chr3_40452339_40473587	40472063	CATGTTAT others(18): Show CATGTTATGTTATGTTATGTTATGTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02622.hp2 NA19043.hp1 HG02109.hp1 HG02622.hp2 NA19043.hp1	a0005 a0011 a0005 a0011	a0005c0005 a0011c0011 a0005c0005 a0011c0011	a0005c0005t0041 a0005c0005t0051 a0011c0011t0057 a0005c0005t0041 a0005c0005t0051 a0011c0011t0057	a0005c0005t0041g0010 a0005c0005t0051g0061 a0011c0011t0057g0060 a0005c0005t0041g0010 a0005c0005t0051g0061 a0011c0011t0057g0060	3	418	0.0072	-25	c.98 others(36): Show c.9832_*9856delATGTTATGTTATGTTATGTTATGTT	RPL14	ENSG00000188846.14	transcript	ENST00000396203.7	protein_coding		3477		chr3	TogoVar
RPL35A_chr3_197945190_197961610	197955161	TACTGTTG others(18): Show TACTGTTGAACCCTGCTAAGTGGTTC	T T	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18966.hp2 NA18945.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0064 a0001c0001t0001g0068	2	374	0.0054	-25	c.310 others(40): Show c.310-587_310-563delCTGTTGAACCCTGCTAAGTGGTTCA	RPL35A	ENSG00000182899.17	transcript	ENST00000647248.2	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPS10_chr6_34412454_34431069	34428925	AAAAAAAA others(18): Show AAAAAAAAACAAAAAACAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	390	0.0026	-25	c.-29 others(36): Show c.-2919_-2895delGTTTTTTTTGTTTTTTGTTTTTTTT	RPS10	ENSG00000124614.17	transcript	ENST00000648437.1	protein_coding		2857		chr6	TogoVar
RPS14_chr5_150437635_150454739	150441668	GATTGCAG others(18): Show GATTGCAGTGAGCCTGAGATCATGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0035 a0001c0001t0023g0035	1	414	0.0024	-25	c.25 others(36): Show c.2593_*2617delGGCATGATCTCAGGCTCACTGCAAT	RPS14	ENSG00000164587.13	transcript	ENST00000407193.7	protein_coding		966		chr5	TogoVar
RPS18_chr6_33267075_33281511	33280265	GGGGGAAC others(18): Show GGGGGAACCTGACCTTCTCCAGCAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01070.hp2 HG01109.hp1 others(7): Show HG00280.hp1 HG01070.hp2 HG01109.hp1 HG02027.hp1 HG02129.hp2 HG02132.hp1 HG02630.hp1 HG03225.hp1 NA18522.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0001 a0001c0001t0001g0013	10	375	0.0267	-25	c.38 others(36): Show c.3800_*3824delGGGGAACCTGACCTTCTCCAGCAGT	RPS18	ENSG00000231500.7	transcript	ENST00000439602.7	protein_coding		3755		chr6	TogoVar
RPS21_chr20_62382103_62393520	62388770	AACGCCAG others(18): Show AACGCCAGGCCTGGTTCTGTATAGTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	412	0.0024	-25	c.30 others(34): Show c.305_*329delACGCCAGGCCTGGTTCTGTATAGTC	RPS21	ENSG00000171858.18	transcript	ENST00000343986.9	protein_coding		251		chr20	TogoVar
RPS27_chr1_153985762_153997155	153985852	ATTTGGGG others(18): Show ATTTGGGGAGACTAAGGCGATGGTAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	402	0.0025	-25	c.-49 others(36): Show c.-4944_-4920delTTTGGGGAGACTAAGGCGATGGTAC	RPS27	ENSG00000177954.14	transcript	ENST00000651669.1	protein_coding		4909		chr1	TogoVar
RPS6KA6_chrX_84053350_84193199	84151196	GAGATATA others(18): Show GAGATATAGATATATAGGATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG00673.hp1 others(50): Show HG00597.hp1 HG00639.hp2 HG00673.hp1 HG00741.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01256.hp1 HG01346.hp2 HG01358.hp1 HG01928.hp1 HG02056.hp1 HG02071.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp2 HG02273.hp2 HG02293.hp2 HG02523.hp2 HG03239.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp1 NA18951.hp2 NA18953.hp1 NA18957.hp1 NA18963.hp2 NA18969.hp2 NA18971.hp1 NA18975.hp2 NA18990.hp1 NA18992.hp1 NA19000.hp1 NA19003.hp1 NA19010.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19072.hp1 NA19075.hp1 NA19077.hp2 NA19078.hp1 NA19081.hp1 NA19085.hp1 NA19087.hp1 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 others(13): Show a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 a0002c0002t0020 a0002c0002t0021 a0002c0002t0022 a0002c0002t0023 a0002c0002t0032 a0002c0002t0037 a0002c0002t0038 a0002c0002t0039 a0002c0002t0043 a0002c0002t0044 a0002c0002t0045 a0002c0002t0046 a0002c0002t0047	a0002c0002t0003g0003 a0002c0002t0003g0030 a0002c0002t0003g0040 others(49): Show a0002c0002t0003g0003 a0002c0002t0003g0030 a0002c0002t0003g0040 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0051 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0064 a0002c0002t0003g0066 a0002c0002t0003g0068 a0002c0002t0007g0028 a0002c0002t0007g0029 a0002c0002t0007g0032 a0002c0002t0007g0033 a0002c0002t0007g0034 a0002c0002t0007g0035 a0002c0002t0007g0036 a0002c0002t0007g0037 a0002c0002t0007g0039 a0002c0002t0009g0047 a0002c0002t0009g0049 a0002c0002t0009g0065 a0002c0002t0009g0067 a0002c0002t0020g0018 a0002c0002t0020g0019 a0002c0002t0021g0017 a0002c0002t0021g0020 a0002c0002t0022g0014 a0002c0002t0022g0023 a0002c0002t0023g0031 a0002c0002t0023g0063 a0002c0002t0032g0012 a0002c0002t0037g0022 a0002c0002t0038g0024 a0002c0002t0039g0021 a0002c0002t0043g0038 a0002c0002t0044g0041 a0002c0002t0045g0052 a0002c0002t0046g0048 a0002c0002t0047g0050	53	272	0.1949	-25	c.259 others(42): Show c.259-3098_259-3074delATATATATCCTATATATCTATATCT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding	3/21			chrX	TogoVar
RPS6KB1_chr17_59888121_59955574	59909226	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02970.hp2 others(3): Show HG01109.hp2 HG01891.hp1 HG02970.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 others(3): Show a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0005g0009	6	304	0.0197	-25	c.142 others(42): Show c.142-1301_142-1277delTTTTTTTTTTTTTTTTTTTTTTTTT	RPS6KB1	ENSG00000108443.14	transcript	ENST00000225577.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPS6KC1_chr1_213046241_213279774	213202611	TCAAAAAC others(18): Show TCAAAAACAAAAAACAAACCAACAAA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp1 HG01071.hp1 others(7): Show HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG02129.hp1 HG03490.hp1 NA18956.hp1 NA19002.hp1 NA19065.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0005 others(7): Show a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0015	10	330	0.0303	-25	c.104 others(46): Show c.1044+26141_1044+26165delCAAACAAAAACAAAAAACAAACCA A	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPSA_chr3_39401720_39417542	39404880	AGCCCAGG others(18): Show AGCCCAGGTGTAAGATTTTAAAAGCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01099.hp2 HG01109.hp1 others(39): Show HG00597.hp2 HG01099.hp2 HG01109.hp1 HG01175.hp2 HG01261.hp2 HG01891.hp2 HG01934.hp1 HG02015.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG02965.hp2 HG02976.hp2 HG03490.hp2 HG04204.hp2 NA18941.hp2 NA18952.hp1 NA18954.hp1 NA18960.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18974.hp1 NA18978.hp2 NA18979.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18993.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19006.hp2 NA19010.hp1 NA19043.hp1 NA19055.hp1 NA19057.hp2 NA19063.hp2 NA19064.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0007 a0001c0002t0002g0025 others(3): Show a0001c0002t0002g0005 a0001c0002t0002g0007 a0001c0002t0002g0025 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046	42	384	0.1094	-25	c.-19 others(36): Show c.-1917_-1893delGCCCAGGTGTAAGATTTTAAAAGCT	RPSA	ENSG00000168028.15	transcript	ENST00000301821.11	protein_coding		1839		chr3	TogoVar
RPTOR_chr17_80539838_80971368	80587122	ACCGGCCC others(18): Show ACCGGCCCGGCGCAGCCCCGCTCGCC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG02109.hp2 HG02717.hp1	a0001 a0001	a0001c0009 a0001c0065 a0001c0009 a0001c0065	a0001c0009t0012 a0001c0065t0007 a0001c0009t0012 a0001c0065t0007	a0001c0009t0012g0103 a0001c0065t0007g0101 a0001c0009t0012g0103 a0001c0065t0007g0101	2	196	0.0102	-25	c.163 others(44): Show c.163-38566_163-38542delGGCCCGGCGCAGCCCCGCTCGCCCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80764117	GTTATTTT others(18): Show GTTATTTTATTTTATTTTATTTTATT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0047 a0001c0011t0047	a0001c0011t0047g0076 a0001c0011t0047g0076	1	196	0.0051	-25	c.830 others(42): Show c.830+9968_830+9992delTTATTTTATTTTATTTTATTTTATT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	6/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRP1_chr21_43784577_43810293	43803438	CAGCCTGA others(18): Show CAGCCTGAGTTGGAGTAAGTGGAAAG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03139.hp2 HG01891.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0004t0016 a0001c0001t0006 a0001c0004t0016	a0001c0001t0006g0080 a0001c0004t0016g0113 a0001c0001t0006g0080 a0001c0004t0016g0113	2	394	0.0051	-25	c.112 others(40): Show c.1124-69_1124-45delTGAGTTGGAGTAAGTGGAAAGAGCC	RRP1	ENSG00000160214.13	transcript	ENST00000497547.2	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr21	TogoVar
RSC1A1_chr1_15654713_15667033	15666072	AAAAATAG others(18): Show AAAAATAGCTTTTTTTTCCCTAGAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	362	0.0028	-25	c.43 others(36): Show c.4351_*4375delAAAATAGCTTTTTTTTCCCTAGAAT	RSC1A1	ENSG00000215695.2	transcript	ENST00000345034.2	protein_coding		4040		chr1	TogoVar
RSF1_chr11_77655009_77825722	77671123	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	352	0.0028	-25	c.375 others(42): Show c.3751+894_3751+918delATATATATATTTTTTTTTTTTTTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	15/15			chr11	TogoVar
RSPH14_chr22_23054415_23146990	23130053	GAAAGAAA others(18): Show GAAAGAAAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	314	0.0032	-25	c.421 others(42): Show c.421+3948_421+3972delTTTCTTTCTTTCTTTCTTTTTCTTT	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar
RSRC2_chr12_122498454_122531936	122513220	TAAATAAA others(18): Show TAAATAAATAAATAAATAAATAAATA	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	382	0.0026	-25	c.725 others(42): Show c.725+1860_725+1884delTATTTATTTATTTATTTATTTATTT	RSRC2	ENSG00000111011.18	transcript	ENST00000331738.12	protein_coding	6/9			chr12	TogoVar
RSU1_chr10_16585611_16822424	16820589	TTCTCCTT others(18): Show TTCTCCTTCTTCCAGCTGAATTACTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0158 a0001c0001t0055g0158	1	190	0.0053	-25	c.-33 others(36): Show c.-3303_-3279delGAGTAATTCAGCTGGAAGAAGGAGA	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding		3166		chr10	TogoVar

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Search Results (Total: 4527 hits)