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
RARS1_chr5_168481471_168524301	168518071	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 NA18747.hp2 others(7): Show HG00099.hp2 HG00323.hp2 NA18747.hp2 NA18939.hp1 NA18961.hp1 NA18980.hp2 NA18987.hp2 NA19068.hp2 NA19074.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0328 a0001c0001t0001g0329 others(7): Show a0001c0001t0001g0318 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0344 a0001c0001t0001g0348 a0001c0001t0001g0363 a0001c0001t0001g0371	10	394	0.0254	33	c.187 others(48): Show c.1873+33_1873+34insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RARS1	ENSG00000113643.9	transcript	ENST00000231572.8	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASA1_chr5_87262883_87396916	87338535	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	282	0.0036	33	c.101 others(50): Show c.1017+444_1017+445insTATATATATATATATATATATATATATT TTTTT	RASA1	ENSG00000145715.15	transcript	ENST00000274376.11	protein_coding	5/24			chr5	TogoVar
RASA3_chr13_113972783_114137623	114044095	G G	GCCCCCCC others(26): Show GCCCCCCCCGCCTCACTCGCTGAGACCCCCGCCC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	67	0.0149	33	c.278 others(50): Show c.278-3002_278-3001insGGGCGGGGGTCTCAGCGAGTGAGGCGGG GGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114099608	G G	GCAGCCCC others(26): Show GCAGCCCCCACAGCACCCCCCCACAGCCCCCCCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	67	0.0149	33	c.56- others(50): Show c.56-25772_56-25771insTGGGGGGGCTGTGGGGGGGTGCTGTGGG GGCTG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114099842	G G	GCCCCCCA others(26): Show GCCCCCCACAGCAGCCCCCACAGCAGCCCCCCCA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0056	1	67	0.0149	33	c.56- others(50): Show c.56-26006_56-26005insTGGGGGGGCTGCTGTGGGGGCTGCTGTG GGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114120179	C C	CCCCTCCC others(26): Show CCCCTCCCTCTCTCCAGCCAGGCGTCGATCAGGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	67	0.0149	33	c.55+ others(50): Show c.55+12255_55+12256insCCCTGATCGACGCCTGGCTGGAGAGAGG GAGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASAL2_chr1_178089104_178483850	178093792	G G	GCCGCCGC others(26): Show GCCGCCGCCGCCGCCGCCGCCACCGCCGCCGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG03688.hp1 HG02602.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0121 a0001c0001t0004g0127 a0001c0001t0004g0121 a0001c0001t0004g0127	2	180	0.0111	33	c.-70 others(42): Show c.-701_-700insCCGCCGCCGCCGCCGCCGCCACCGCCGCCGCCA	RASAL2	ENSG00000075391.18	transcript	ENST00000367649.8	protein_coding		311		chr1	TogoVar
RASAL2_chr1_178089104_178483850	178213991	A A	ACTTTGGG others(26): Show ACTTTGGGAGACTCCCAAAGGATTGATAGCAATC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	180	0.0056	33	c.203 others(52): Show c.203-69564_203-69532dupGACTCCCAAAGGATTGATAGCAATCC TTTGGGA	RASAL2	ENSG00000075391.18	transcript	ENST00000367649.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RASGEF1B_chr4_81421393_81476907	81466770	A A	AGAAAGAA others(26): Show AGAAAGAAAGAAAGAAAGAAGGAAGGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19240.hp2 HG03139.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0234 a0001c0001t0003g0233 a0001c0001t0002g0234 a0001c0001t0003g0233	2	316	0.0063	33	c.-7+ others(48): Show c.-7+4999_-7+5000insCTTTCTTTCCTTCCTTCTTTCTTTCTTTCT TTC	RASGEF1B	ENSG00000138670.19	transcript	ENST00000264400.7	protein_coding	1/13			chr4	TogoVar
RASGEF1C_chr5_180095795_180214211	180096258	T T	TCCTTCCT others(26): Show TCCTTCCTTCCTGTCTTCCTTCCCTCCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00438.hp1 others(34): Show HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00639.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01358.hp2 HG01978.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02155.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG03225.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG04199.hp2 NA18959.hp2 NA18966.hp1 NA18979.hp2 NA19007.hp1 NA19070.hp1 NA19074.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0001t0066 a0001c0001t0067 a0001c0001t0070 a0001c0002t0003 a0001c0002t0004 a0001c0002t0020 a0001c0002t0023 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0002t0028 a0001c0002t0036 a0001c0002t0053 a0001c0004t0022 a0001c0004t0038	a0001c0001t0001g0189 a0001c0001t0003g0196 a0001c0001t0003g0248 others(34): Show a0001c0001t0001g0189 a0001c0001t0003g0196 a0001c0001t0003g0248 a0001c0001t0003g0251 a0001c0001t0003g0260 a0001c0001t0003g0292 a0001c0001t0003g0295 a0001c0001t0003g0317 a0001c0001t0004g0191 a0001c0001t0004g0284 a0001c0001t0004g0312 a0001c0001t0015g0028 a0001c0001t0019g0078 a0001c0001t0021g0124 a0001c0001t0021g0143 a0001c0001t0066g0093 a0001c0001t0067g0096 a0001c0001t0070g0126 a0001c0002t0003g0179 a0001c0002t0003g0190 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0328 a0001c0002t0004g0256 a0001c0002t0004g0290 a0001c0002t0004g0307 a0001c0002t0020g0094 a0001c0002t0023g0352 a0001c0002t0024g0016 a0001c0002t0025g0054 a0001c0002t0026g0077 a0001c0002t0028g0116 a0001c0002t0036g0133 a0001c0002t0053g0017 a0001c0004t0022g0273 a0001c0004t0038g0252 a0001c0004t0038g0277	37	370	0.1000	33	c.52 others(44): Show c.5242_*5243insGAGGGAGGGAGGGAAGGAAGACAGGAAGGAAGG	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding		4536		chr5	TogoVar
RASGRF1_chr15_78954906_79095780	79023495	G G	GAGATCCT others(26): Show GAGATCCTGCCCAGGCCACAGGCTTTACAGCAGA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	314	0.0032	33	c.154 others(52): Show c.1542+1786_1542+1818dupTCTGCTGTAAAGCCTGTGGCCTGGGC AGGATCT	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding	10/26			chr15	TogoVar
RASGRF2_chr5_80955363_81235162	80996471	T T	TTTCTTCT others(26): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01069.hp2 others(12): Show HG00642.hp1 HG00741.hp2 HG01069.hp2 HG01884.hp2 HG01978.hp1 HG01981.hp1 HG02145.hp2 HG02717.hp2 HG02738.hp2 HG02976.hp1 HG03239.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp2 NA18522.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0002c0005 a0006c0020	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(10): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0015 a0001c0002t0012 a0001c0002t0015 a0001c0003t0008 a0001c0004t0042 a0001c0010t0043 a0002c0005t0003 a0002c0005t0047 a0006c0020t0001	a0001c0001t0003g0139 a0001c0001t0005g0269 a0001c0001t0006g0212 others(12): Show a0001c0001t0003g0139 a0001c0001t0005g0269 a0001c0001t0006g0212 a0001c0001t0006g0213 a0001c0001t0006g0214 a0001c0001t0008g0256 a0001c0001t0015g0157 a0001c0002t0012g0105 a0001c0002t0015g0156 a0001c0003t0008g0249 a0001c0004t0042g0155 a0001c0010t0043g0034 a0002c0005t0003g0049 a0002c0005t0047g0123 a0006c0020t0001g0266	15	276	0.0544	33	c.288 others(52): Show c.288+35446_288+35478dupTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTC	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(26): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	306	0.0033	33	c.-35 others(44): Show c.-3577_-3576insTATATATATATATTTTTTTTTTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(26): Show ATATATATATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	306	0.0033	33	c.-35 others(44): Show c.-3577_-3576insTATATATATTTTTTTTTTTTTTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(26): Show ATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01975.hp1 HG00438.hp2 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0293 a0001c0001t0001g0158 a0001c0001t0001g0293	2	306	0.0065	33	c.-35 others(44): Show c.-3577_-3576insTATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATTT others(26): Show ATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	306	0.0033	33	c.-35 others(44): Show c.-3577_-3576insTATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RBBP4_chr1_32646208_32691211	32648947	A A	AGCCACAG others(26): Show AGCCACAGCACCAGGCCTTTTTTTTTTTTTTAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0238 a0001c0001t0028g0238	1	312	0.0032	33	c.-23 others(44): Show c.-2360_-2359insGCCACAGCACCAGGCCTTTTTTTTTTTTTTAAC	RBBP4	ENSG00000162521.19	transcript	ENST00000373493.10	protein_coding		2260		chr1	TogoVar
RBBP8_chr18_22928328_23031486	22929485	T T	TGTGTGTG others(26): Show TGTGTGTGTGTGTGTGTGTTTAAGAGACAGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	330	0.0030	33	c.-41 others(44): Show c.-4178_-4177insGTGTGTGTGTGTGTGTGTTTAAGAGACAGGCGG	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding		3842		chr18	TogoVar
RBFOX1_chr16_6014024_7718340	6578612	T T	TGTGTGTG others(26): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	68	0.0147	33	c.-63 others(52): Show c.-63-75990_-63-75989insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79149998	G G	GGGGGTGT others(26): Show GGGGGTGTGGGTGGGGGATGGGGATGGGGGTTGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(63): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG01071.hp1 HG01081.hp1 HG01175.hp2 HG01255.hp2 HG01934.hp1 HG01993.hp1 HG02055.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02615.hp1 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03579.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG06807.hp2 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18952.hp2 NA18970.hp1 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA19085.hp1 NA19085.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0011	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 others(63): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0002g0131 a0001c0001t0002g0150 a0001c0001t0003g0002 a0001c0001t0003g0011 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0040 a0001c0001t0003g0043 a0001c0001t0003g0055 a0001c0001t0003g0072 a0001c0001t0003g0083 a0001c0001t0004g0090 a0001c0001t0004g0097 a0001c0001t0004g0105 a0001c0001t0004g0133 a0001c0001t0004g0152 a0001c0001t0005g0107 a0001c0001t0005g0109 a0001c0001t0005g0147 a0001c0001t0006g0099 a0001c0001t0006g0112 a0001c0001t0006g0116 a0001c0001t0006g0125 a0001c0001t0007g0001 a0001c0001t0007g0009 a0001c0001t0007g0021 a0001c0001t0008g0113 a0001c0001t0010g0022 a0001c0001t0013g0070 a0001c0001t0014g0027 a0001c0001t0015g0018 a0001c0001t0017g0003 a0001c0001t0021g0026 a0001c0001t0024g0149 a0001c0001t0025g0143 a0001c0001t0028g0136 a0001c0002t0001g0037 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0002t0001g0080 a0001c0002t0003g0073 a0001c0002t0006g0140 a0001c0002t0011g0034	66	154	0.4286	33	c.-33 others(52): Show c.-33-34251_-33-34250insTCAACCCCCATCCCCATCCCCCACCC ACACCCC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611130	T T	TCTCTCTC others(26): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00639.hp1 HG00741.hp1 others(2): Show HG00438.hp1 HG00639.hp1 HG00741.hp1 HG01261.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010	a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0003g0083 others(2): Show a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0003g0083 a0001c0001t0007g0009 a0001c0001t0010g0006	5	154	0.0325	33	c.-62 others(42): Show c.-625_-624insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		80		chr17	TogoVar
RBL1_chr20_36991349_37100997	37002336	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0325 a0001c0001t0002g0325	1	354	0.0028	33	c.303 others(52): Show c.3036+1365_3036+1366insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	RBL1	ENSG00000080839.12	transcript	ENST00000373664.8	protein_coding	21/21			chr20	TogoVar
RBL2_chr16_53429471_53496648	53457258	C C	CCTTTTTT others(26): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0134 a0001c0003t0003g0134	1	276	0.0036	33	c.118 others(52): Show c.1180-2193_1180-2192insCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	RBL2	ENSG00000103479.17	transcript	ENST00000262133.11	protein_coding	8/21			chr16	TogoVar
RBM17_chr10_6084034_6122447	6118157	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0221 a0001c0001t0008g0221	1	434	0.0023	33	c.26 others(44): Show c.2601_*2602insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RBM17	ENSG00000134453.16	transcript	ENST00000379888.9	protein_coding		711		chr10	TogoVar
RBM20_chr10_110639336_110844468	110737177	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA20129.hp2 HG01123.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0199 a0002c0002t0001g0099 a0001c0001t0004g0199 a0002c0002t0001g0099	2	268	0.0075	33	c.192 others(52): Show c.192-43604_192-43603insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
RBM20_chr10_110639336_110844468	110747863	C C	CTTTTAGA others(26): Show CTTTTAGAAAGTTTTCTTTCTGAAAGAGAAAACT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0212 a0002c0002t0001g0212	1	268	0.0037	33	c.192 others(52): Show c.192-32900_192-32868dupAGAAAGTTTTCTTTCTGAAAGAGAAA ACTTTTT	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
RBM23_chr14_22888204_22924149	22910151	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01261.hp2 NA18942.hp2 HG00408.hp1 HG01261.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0001 a0002c0002t0005	a0002c0002t0001g0132 a0002c0002t0001g0201 a0002c0002t0005g0148 a0002c0002t0001g0132 a0002c0002t0001g0201 a0002c0002t0005g0148	3	362	0.0083	33	c.67- others(46): Show c.67-557_67-556insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	RBM23	ENSG00000100461.18	transcript	ENST00000359890.8	protein_coding	2/13			chr14	TogoVar
RBM42_chr19_35624036_35642685	35638908	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	33	c.13 others(44): Show c.1354_*1355insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RBM42	ENSG00000126254.12	transcript	ENST00000262633.9	protein_coding		1224		chr19	TogoVar
RBM47_chr4_40418280_40634864	40437091	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0072 a0002c0007t0072	a0002c0007t0072g0074 a0002c0007t0072g0074	1	278	0.0036	33	c.112 others(50): Show c.1124-445_1124-444insATTTATATATATATATATATTTTTTTTT TTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40437091	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0025 a0002c0007t0025	a0002c0007t0025g0130 a0002c0007t0025g0130	1	278	0.0036	33	c.112 others(50): Show c.1124-445_1124-444insATTTATATATATATATATATATTTTTTT TTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40573807	A A	AAAAGAAA others(26): Show AAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0147 a0001c0004t0011g0147	1	278	0.0036	33	c.-23 others(54): Show c.-239-29302_-239-29301insCTTTCTTTCTTTCTTTCTTTTCTT TCTTTCTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBM5_chr3_50083919_50124021	50084778	C C	CCAGTAGG others(26): Show CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02451.hp2 others(5): Show HG01884.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02809.hp1 HG02818.hp1 HG03130.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0210 a0001c0001t0001g0213 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0219	8	284	0.0282	33	c.-43 others(44): Show c.-4305_-4304insCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAT	RBM5	ENSG00000003756.17	transcript	ENST00000347869.8	protein_coding		4140		chr3	TogoVar
RBM8A_chr1_145916556_145932484	145929764	G G	GAATCTTC others(26): Show GAATCTTCTTTCATTCTTTTTTTTTTTTTAAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0030 a0001c0001t0022g0030	1	382	0.0026	33	c.-23 others(44): Show c.-2339_-2338insGTCTTAAAAAAAAAAAAAGAATGAAAGAAGATT	RBM8A	ENSG00000265241.8	transcript	ENST00000583313.7	protein_coding		2281		chr1	TogoVar
RBMS1_chr2_160267151_160498807	160426297	A A	AGAAAGAA others(26): Show AGAAAGAAAGAAAAGAAAGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	328	0.0031	33	c.76- others(50): Show c.76-58907_76-58906insCTTCCTTCCTTCCTTCTTTCTTTTCTTT CTTTC	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS3_chr3_29276071_30015386	29384426	T T	TAAGAAGA others(26): Show TAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0001 a0001c0001t0069g0001	1	116	0.0086	33	c.76- others(50): Show c.76-50315_76-50314insGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29444788	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0035 a0001c0001t0011g0035	1	116	0.0086	33	c.248 others(50): Show c.248+9897_248+9898insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29648263	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG06807.hp2 HG02622.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0027 a0001c0001t0021 a0001c0001t0027	a0001c0001t0021g0034 a0001c0001t0027g0090 a0001c0001t0021g0034 a0001c0001t0027g0090	2	116	0.0172	33	c.399 others(52): Show c.399+61080_399+61081insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29930109	C C	CTTTCTTT others(26): Show CTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0041 a0001c0003t0009g0041	1	116	0.0086	33	c.940 others(50): Show c.940-5974_940-5973insCTTTCTTTTTTTTTTTTTTTTTTTTTTT TTTTT	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(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 NA18946.hp1 HG02738.hp2 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0002t0001g0001 a0001c0001t0001g0002 a0001c0002t0001g0001	2	446	0.0045	33	c.-11 others(44): Show c.-1118_-1117insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RBPJL	ENSG00000124232.11	transcript	ENST00000343694.8	protein_coding		1034		chr20	TogoVar
RC3H1_chr1_173926084_174027357	173942428	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0005 a0006c0009t0005	a0006c0009t0005g0290 a0006c0009t0005g0290	1	310	0.0032	33	c.313 others(52): Show c.3135+1013_3135+1014insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	18/19			chr1	TogoVar
RC3H1_chr1_173926084_174027357	173950420	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0092 a0001c0001t0079g0092	1	310	0.0032	33	c.252 others(52): Show c.2523+1565_2523+1566insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	14/19			chr1	TogoVar
RCBTB2_chr13_48483963_48538080	48527351	T T	TATCATAT others(26): Show TATCATATATATATATATATATGATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp1 HG02109.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0280 a0001c0001t0001g0281	2	320	0.0063	33	c.-21 others(52): Show c.-218-2595_-218-2594insTATATATATATCATATATATATATAT ATATGAT	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14			chr13	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	ATAAAAAA others(26): Show ATAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02040.hp2 NA18947.hp1 others(1): Show HG00099.hp1 HG02040.hp2 NA18947.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0242 a0001c0001t0003g0244 a0001c0001t0003g0307 others(1): Show a0001c0001t0003g0242 a0001c0001t0003g0244 a0001c0001t0003g0307 a0001c0001t0004g0243	4	390	0.0103	33	c.286 others(50): Show c.286-2161_286-2160insATATATATATATATATATATATATATTT TTTTA	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	ATAAAAAT others(26): Show ATAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02071.hp2 NA18946.hp1 others(4): Show HG00673.hp2 HG02071.hp2 NA18946.hp1 NA18964.hp2 NA18975.hp2 NA19011.hp2 NA19079.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0003 a0001c0001t0004 a0001c0001t0026 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0026 a0004c0010t0003	a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 others(4): Show a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0265 a0001c0001t0004g0281 a0001c0001t0026g0305 a0004c0010t0003g0364	7	390	0.0180	33	c.286 others(50): Show c.286-2161_286-2160insATATATATATATATATATATATATATAT TTTTA	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCHY1_chr4_75474033_75519403	75487567	T T	TATATATT others(26): Show TATATATTCATATATATTCATAATATATATATTC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	406	0.0025	33	c.657 others(50): Show c.657+3013_657+3014insGAATATATATATTATGAATATATATGAA TATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCHY1_chr4_75474033_75519403	75487617	T T	TATATATA others(26): Show TATATATATTCATATATATTCATAATATATATTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02965.hp1 others(1): Show HG01243.hp1 HG02055.hp1 HG02965.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0074 a0001c0001t0003g0102 a0001c0001t0003g0121 others(1): Show a0001c0001t0003g0074 a0001c0001t0003g0102 a0001c0001t0003g0121 a0001c0001t0003g0136	4	406	0.0099	33	c.657 others(50): Show c.657+2963_657+2964insGAATATATATTATGAATATATATGAATA TATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RDX_chr11_110224441_110301614	110289956	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18980.hp2 NA18970.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0208 a0001c0001t0003g0249 a0001c0001t0001g0208 a0001c0001t0003g0249	2	376	0.0053	33	c.-65 others(50): Show c.-65+6510_-65+6511insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	1/13			chr11	TogoVar
REEP1_chr2_86208993_86342626	86226087	C C	CCACCACC others(26): Show CCACCACCACCACCACCACCACCACCACCATCAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG03209.hp2 others(1): Show HG02257.hp1 HG02280.hp2 HG03209.hp2 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0006 a0003c0005t0006 a0001c0001t0006 a0003c0005t0006	a0001c0001t0006g0146 a0001c0001t0006g0158 a0003c0005t0006g0154 others(1): Show a0001c0001t0006g0146 a0001c0001t0006g0158 a0003c0005t0006g0154 a0003c0005t0006g0159	4	320	0.0125	33	c.631 others(50): Show c.631+1243_631+1275dupATGATGGTGGTGGTGGTGGTGGTGGTGG TGGTG	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding	7/8			chr2	TogoVar
RELL1_chr4_37605634_37691376	37653370	A A	ACAAGTAT others(26): Show ACAAGTATTGAAACCTCAATACAAGTATTGAAAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01192.hp1 HG01256.hp2 HG00140.hp1 HG01192.hp1 HG01256.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0004 a0004c0008t0004 a0001c0001t0004 a0004c0008t0004	a0001c0001t0004g0206 a0001c0001t0004g0229 a0004c0008t0004g0265 a0001c0001t0004g0206 a0001c0001t0004g0229 a0004c0008t0004g0265	3	324	0.0093	33	c.89- others(48): Show c.89-3871_89-3870insGTTTCAATACTTGTATTGAGGTTTCAATAC TTG	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	1/6			chr4	TogoVar
RELL2_chr5_141631997_141646064	141632794	G G	GGTGTGAA others(26): Show GGTGTGAAGAGGTTGAATAGAGAAGAGGTTGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	33	c.-54 others(44): Show c.-5432_-5431insGTGTGAAGAGGTTGAATAGAGAAGAGGTTGAAT	RELL2	ENSG00000164620.9	transcript	ENST00000297164.8	protein_coding		4202		chr5	TogoVar

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Search Results (Total: 4928 hits)