JoGo: Joint Open Genome and Omics Platform

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RARB_chr3_25423263_25602932	25494250	T T	TACACACA others(23): Show TACACACACACGCACGCGCGCGCACTCACAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0143 a0001c0001t0018g0143	1	290	0.0035	30	c.307 others(47): Show c.307-6930_307-6929insACACACACGCACGCGCGCGCACTCACAC AC	RARB	ENSG00000077092.20	transcript	ENST00000330688.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
RARS2_chr6_87508938_87594987	87513263	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 NA18959.hp1 NA19003.hp2 others(2): Show HG00597.hp1 NA18959.hp1 NA19003.hp2 NA19056.hp2 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0192 a0001c0002t0003g0193 a0001c0002t0003g0199 others(2): Show a0001c0002t0003g0192 a0001c0002t0003g0193 a0001c0002t0003g0199 a0001c0002t0003g0202 a0001c0002t0003g0210	5	382	0.0131	30	c.11 others(41): Show c.1149_*1150insCACACACACACACACACACACACACACACA	RARS2	ENSG00000146282.19	transcript	ENST00000369536.10	protein_coding		674		chr6	TogoVar
RASA1_chr5_87262883_87396916	87338535	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	282	0.0036	30	c.101 others(47): Show c.1017+444_1017+445insTATATATATATATATATATATATATATA TT	RASA1	ENSG00000145715.15	transcript	ENST00000274376.11	protein_coding	5/24			chr5	TogoVar
RASA1_chr5_87262883_87396916	87338535	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0128	1	282	0.0036	30	c.101 others(47): Show c.1017+444_1017+445insTATATATATATATATATATATATATATT TT	RASA1	ENSG00000145715.15	transcript	ENST00000274376.11	protein_coding	5/24			chr5	TogoVar
RASA1_chr5_87262883_87396916	87338535	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0125 a0001c0001t0003g0125	1	282	0.0036	30	c.101 others(47): Show c.1017+444_1017+445insTATATATATATATATATATATATATTTT TT	RASA1	ENSG00000145715.15	transcript	ENST00000274376.11	protein_coding	5/24			chr5	TogoVar
RASA3_chr13_113972783_114137623	114005137	A A	AGCGGGAG others(23): Show AGCGGGAGAGGAATGAGAAATTACTCAGTGG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	67	0.0149	30	c.174 others(49): Show c.1742+2366_1742+2395dupCCACTGAGTAATTTCTCATTCCTCTC CCGC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114044150	C C	CCCCCCCC others(23): Show CCCCCCCCCGCCCCGCCTCACTCGCTGAGCT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0058	1	67	0.0149	30	c.278 others(47): Show c.278-3057_278-3056insAGCTCAGCGAGTGAGGCGGGGCGGGGGG GG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114044198	G G	GCCCCCCC others(23): Show GCCCCCCCGCCCCGCCTCACTCGCTGAGCCC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	67	0.0149	30	c.278 others(47): Show c.278-3105_278-3104insGGGCTCAGCGAGTGAGGCGGGGCGGGGG GG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114120337	G G	GCCAGGCG others(23): Show GCCAGGCGTCGATCAGGGCCCCTCCCTCTCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18522.hp1 HG02257.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0009 a0001c0001t0001 a0002c0004t0009	a0001c0001t0001g0008 a0002c0004t0009g0010 a0001c0001t0001g0008 a0002c0004t0009g0010	2	67	0.0299	30	c.55+ others(47): Show c.55+12097_55+12098insAGAGAGGGAGGGGCCCTGATCGACGCCT GG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASAL2_chr1_178089104_178483850	178110637	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02622.hp2 NA19240.hp2 HG00609.hp2 HG02622.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0002 a0001c0002t0003g0037 a0001c0002t0003g0039 a0001c0002t0001g0002 a0001c0002t0003g0037 a0001c0002t0003g0039	3	180	0.0167	30	c.202 others(49): Show c.202+15959_202+15960insATATATATATATATATATATATATAT ATAT	RASAL2	ENSG00000075391.18	transcript	ENST00000367649.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RASAL2_chr1_178089104_178483850	178162395	T T	TTATATAT others(23): Show TTATATATTTTATATATTATATATAATATTA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03225.hp2 HG03130.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0009 a0001c0013t0006 a0001c0001t0009 a0001c0013t0006	a0001c0001t0009g0065 a0001c0013t0006g0064 a0001c0001t0009g0065 a0001c0013t0006g0064	2	180	0.0111	30	c.202 others(49): Show c.202+67718_202+67747dupTATATATAATATTATATATATTTTAT ATAT	RASAL2	ENSG00000075391.18	transcript	ENST00000367649.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RASAL2_chr1_178089104_178483850	178395771	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	180	0.0056	30	c.564 others(47): Show c.564+5586_564+5587insATATATATATATATATATATATATATAT AT	RASAL2	ENSG00000075391.18	transcript	ENST00000367649.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RASGEF1B_chr4_81421393_81476907	81466770	A A	AAAAAAGA others(23): Show AAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02622.hp2 HG01884.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0013 a0001c0001t0006g0292 a0001c0001t0001g0013 a0001c0001t0006g0292	2	316	0.0063	30	c.-7+ others(45): Show c.-7+4999_-7+5000insCTTTCTTTCTTTCTTTCTTTCTTTCTTTTT	RASGEF1B	ENSG00000138670.19	transcript	ENST00000264400.7	protein_coding	1/13			chr4	TogoVar
RASGEF1B_chr4_81421393_81476907	81466770	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	316	0.0032	30	c.-7+ others(45): Show c.-7+4999_-7+5000insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	RASGEF1B	ENSG00000138670.19	transcript	ENST00000264400.7	protein_coding	1/13			chr4	TogoVar
RASGRF1_chr15_78954906_79095780	79061413	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0034 a0001c0002t0003g0034	1	314	0.0032	30	c.384 others(47): Show c.384-2933_384-2932insATATATATATATATATATATATATATAT AT	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding	2/26			chr15	TogoVar
RASGRF1_chr15_78954906_79095780	79078147	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGCATGTGTC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01361.hp2 HG01433.hp1 others(11): Show HG01123.hp2 HG01361.hp2 HG01433.hp1 HG01952.hp1 HG02486.hp1 HG02559.hp1 HG03017.hp1 NA18948.hp2 NA18960.hp1 NA18979.hp2 NA18983.hp1 NA19000.hp2 NA19056.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0004t0002	a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 others(11): Show a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0002g0134 a0001c0001t0002g0172 a0001c0002t0001g0152 a0001c0002t0002g0166 a0001c0002t0003g0168 a0001c0003t0001g0173 a0001c0004t0002g0169	14	314	0.0446	30	c.276 others(49): Show c.276+12075_276+12076insGACACATGCACACACACACACACACA CACA	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding	1/26			chr15	TogoVar
RASGRF2_chr5_80955363_81235162	80996471	T T	TTTCTTCT others(23): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01358.hp1 HG02132.hp1 others(10): Show HG00609.hp1 HG01358.hp1 HG02132.hp1 HG02135.hp1 HG02615.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG03139.hp1 HG03490.hp2 NA18987.hp1 NA19030.hp2 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0023 a0004c0018	a0001c0001t0001 a0001c0001t0016 a0001c0001t0056 others(9): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0056 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0008 a0001c0006t0002 a0001c0008t0003 a0001c0008t0008 a0001c0023t0019 a0004c0018t0008	a0001c0001t0001g0070 a0001c0001t0016g0217 a0001c0001t0056g0209 others(10): Show a0001c0001t0001g0070 a0001c0001t0016g0217 a0001c0001t0056g0209 a0001c0002t0001g0149 a0001c0002t0003g0121 a0001c0003t0001g0001 a0001c0003t0001g0003 a0001c0003t0008g0253 a0001c0006t0002g0222 a0001c0008t0003g0115 a0001c0008t0008g0252 a0001c0023t0019g0262 a0004c0018t0008g0250	13	276	0.0471	30	c.288 others(49): Show c.288+35449_288+35478dupTTCTTCTTCTTCTTCTTCTTCTTCTT CTTC	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASGRF2_chr5_80955363_81235162	81024249	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	276	0.0036	30	c.289 others(49): Show c.289-18601_289-18600insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASGRF2_chr5_80955363_81235162	81114796	A A	AGTCTGTC others(23): Show AGTCTGTCTTACTCACCTCCATACCCTCAGT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0181 a0001c0001t0007g0181	1	276	0.0036	30	c.247 others(47): Show c.2470+881_2470+910dupGTCTTACTCACCTCCATACCCTCAGTGT CT	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	15/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASGRP3_chr2_33471649_33569731	33529487	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG03471.hp2 HG00544.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0043 a0001c0001t0001 a0001c0004t0043	a0001c0001t0001g0353 a0001c0004t0043g0201 a0001c0001t0001g0353 a0001c0004t0043g0201	2	370	0.0054	30	c.108 others(49): Show c.1083+2088_1083+2089insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	RASGRP3	ENSG00000152689.18	transcript	ENST00000403687.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
RASGRP3_chr2_33471649_33569731	33547342	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0174 a0001c0002t0006g0174	1	370	0.0027	30	c.139 others(49): Show c.1395-2233_1395-2232insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RASGRP3	ENSG00000152689.18	transcript	ENST00000403687.8	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
RASSF3_chr12_64605495_64702564	64641414	A A	ACACACAC others(23): Show ACACACACACACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0025 a0001c0002t0028g0025	1	370	0.0027	30	c.111 others(49): Show c.111+30672_111+30673insACACACACACACACACACACACACAC ACGC	RASSF3	ENSG00000153179.14	transcript	ENST00000542104.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
RASSF3_chr12_64605495_64702564	64641414	A A	ACACACAC others(23): Show ACACACACACACACACACACACACACGCGCG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0318 a0001c0001t0065g0318	1	370	0.0027	30	c.111 others(49): Show c.111+30672_111+30673insACACACACACACACACACACACACGC GCGC	RASSF3	ENSG00000153179.14	transcript	ENST00000542104.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
RASSF3_chr12_64605495_64702564	64641414	A A	ACACACAC others(23): Show ACACACACACACACACACACACACGCGCGCG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0315 a0001c0001t0036g0315	1	370	0.0027	30	c.111 others(49): Show c.111+30672_111+30673insACACACACACACACACACACACGCGC GCGC	RASSF3	ENSG00000153179.14	transcript	ENST00000542104.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
RASSF3_chr12_64605495_64702564	64641414	A A	ACACACAC others(23): Show ACACACACACACACACACACACGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0316 a0001c0001t0003g0316	1	370	0.0027	30	c.111 others(49): Show c.111+30672_111+30673insACACACACACACACACACACGCGCGC GCGC	RASSF3	ENSG00000153179.14	transcript	ENST00000542104.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
RASSF3_chr12_64605495_64702564	64641414	A A	ACACACAC others(23): Show ACACACACACACACACGCGCGCGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03486.hp1 HG02922.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0044 a0001c0001t0006 a0001c0001t0044	a0001c0001t0006g0310 a0001c0001t0044g0110 a0001c0001t0006g0310 a0001c0001t0044g0110	2	370	0.0054	30	c.111 others(49): Show c.111+30672_111+30673insACACACACACACACGCGCGCGCGCGC GCGC	RASSF3	ENSG00000153179.14	transcript	ENST00000542104.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
RASSF5_chr1_206502531_206594448	206526269	A A	AGTGTGTG others(23): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03471.hp1 HG02723.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0024 a0001c0001t0006g0023 a0001c0001t0001g0024 a0001c0001t0006g0023	2	346	0.0058	30	c.458 others(49): Show c.458-11879_458-11878insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	RASSF5	ENSG00000266094.8	transcript	ENST00000579436.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAVER1_chr19_10311212_10338529	10313650	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0167	1	438	0.0023	30	c.38 others(41): Show c.3803_*3804insATATATATATATATATATATATATATATAT	RAVER1	ENSG00000161847.15	transcript	ENST00000617231.5	protein_coding		2561		chr19	TogoVar
RAVER2_chr1_64740075_64838232	64758892	A A	AAAATATT others(23): Show AAAATATTTAAATATTTAATATTTACATATT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03516.hp2 HG02258.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0190 a0001c0001t0001g0191	2	364	0.0055	30	c.250 others(47): Show c.250-9748_250-9719dupTAATATTTACATATTAAATATTTAAATA TT	RAVER2	ENSG00000162437.15	transcript	ENST00000294428.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
RB1CC1_chr8_52617458_52719435	52699830	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0197 a0001c0002t0001g0197	1	306	0.0033	30	c.-16 others(51): Show c.-166-12864_-166-12863insATATATATATATATATATATATAT ATTTTT	RB1CC1	ENSG00000023287.13	transcript	ENST00000025008.10	protein_coding	1/23			chr8	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	306	0.0033	30	c.-35 others(41): Show c.-3577_-3576insTATATATATATATATATATATTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(23): Show ATATATATATATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA19068.hp1 NA18972.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0054 a0001c0001t0001g0001 a0001c0001t0001g0054	2	306	0.0065	30	c.-35 others(41): Show c.-3577_-3576insTATATATATATTTTTTTTTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(23): Show ATATATATATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	306	0.0033	30	c.-35 others(41): Show c.-3577_-3576insTATATATATTTTTTTTTTTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(23): Show ATATATATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA19003.hp2 NA18939.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0288 a0001c0001t0001g0058 a0001c0001t0001g0288	2	306	0.0065	30	c.-35 others(41): Show c.-3577_-3576insTATATATTTTTTTTTTTTTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATTT others(23): Show ATATATTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	306	0.0033	30	c.-35 others(41): Show c.-3577_-3576insTATATTTTTTTTTTTTTTTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RBBP8_chr18_22928328_23031486	23022602	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03831.hp1 HG06807.hp1 others(1): Show HG02165.hp1 HG03831.hp1 HG06807.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0108 a0001c0001t0003g0119 others(1): Show a0001c0001t0003g0102 a0001c0001t0003g0108 a0001c0001t0003g0119 a0001c0001t0003g0124	4	330	0.0121	30	c.259 others(47): Show c.2596+341_2596+370dupATAAAATAAAATAAAATAAAATAAAATA AA	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr18	TogoVar
RBFOX1_chr16_6014024_7718340	6193360	A A	ATATATAT others(23): Show ATATATATATATACACATTATATATATATAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01175.hp2 HG02148.hp1 others(3): Show HG00609.hp1 HG01175.hp2 HG02148.hp1 HG02148.hp2 HG03490.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0001t0031 a0001c0001t0035	a0001c0001t0001g0020 a0001c0001t0001g0059 a0001c0001t0002g0004 others(3): Show a0001c0001t0001g0020 a0001c0001t0001g0059 a0001c0001t0002g0004 a0001c0001t0020g0002 a0001c0001t0031g0056 a0001c0001t0035g0065	6	68	0.0882	30	c.-12 others(53): Show c.-126-123623_-126-123622insCACATTATATATATATACTATA TATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6339649	T T	TTTTTATT others(23): Show TTTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0003 a0001c0001t0043g0003	1	68	0.0147	30	c.-64 others(49): Show c.-64+22602_-64+22631dupATTTTATTTTATTTTATTTTATTTTA TTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6407566	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTCACAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03195.hp1 NA21309.hp1 HG03098.hp2 HG03195.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0029 a0001c0001t0030 a0001c0001t0009 a0001c0001t0029 a0001c0001t0030	a0001c0001t0009g0036 a0001c0001t0029g0001 a0001c0001t0030g0024 a0001c0001t0009g0036 a0001c0001t0029g0001 a0001c0001t0030g0024	3	68	0.0441	30	c.-64 others(49): Show c.-64+90510_-64+90511insTGTGTGTGTGTGTGTCACAGAGAGAG AGAG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6539806	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02148.hp2 HG03490.hp2 others(1): Show HG01192.hp1 HG02148.hp2 HG03490.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0001	a0001c0001t0001g0059 a0001c0001t0002g0015 a0001c0001t0003g0049 others(1): Show a0001c0001t0001g0059 a0001c0001t0002g0015 a0001c0001t0003g0049 a0001c0004t0001g0060	4	68	0.0588	30	c.-63 others(51): Show c.-63-114795_-63-114766dupCACACACACACACACACACACACA CACACA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6539806	G G	GACACACA others(23): Show GACACACACAGACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	68	0.0147	30	c.-63 others(51): Show c.-63-114788_-63-114787insGACACACACACACACACACACACA CACACA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6557004	T T	TACATATA others(23): Show TACATATATATACATATATATACATATATAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0014 a0001c0001t0017g0014	1	68	0.0147	30	c.-63 others(49): Show c.-63-97567_-63-97538dupCATATATATACATATATATACATATA TACA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6578612	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	68	0.0147	30	c.-63 others(49): Show c.-63-75990_-63-75989insTGTGTGTGTGTGTGTGTGTGTGTGTG TGGG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6634700	C C	CATATTTG others(23): Show CATATTTGTATTAAATATATAACACAAAGAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00609.hp1 others(24): Show HG00140.hp1 HG00280.hp2 HG00609.hp1 HG00741.hp1 HG01099.hp1 HG01099.hp2 HG01175.hp1 HG01192.hp2 HG02148.hp1 HG02148.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02965.hp1 HG02965.hp2 HG03490.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 NA18522.hp1 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0005 a0001c0001 a0001c0004 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0001t0037 a0001c0004t0001 a0003c0005t0003	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0053 others(24): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0044 a0001c0001t0003g0010 a0001c0001t0003g0041 a0001c0001t0005g0058 a0001c0001t0005g0066 a0001c0001t0006g0038 a0001c0001t0007g0039 a0001c0001t0010g0037 a0001c0001t0014g0046 a0001c0001t0018g0052 a0001c0001t0020g0002 a0001c0001t0027g0042 a0001c0001t0029g0001 a0001c0001t0031g0056 a0001c0001t0032g0068 a0001c0001t0035g0065 a0001c0001t0037g0029 a0001c0004t0001g0060 a0003c0005t0003g0043	27	68	0.3971	30	c.-63 others(49): Show c.-63-19882_-63-19881insCACAAAGATATATTTGTATTAAATAT ATAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6767947	T T	TAATAAGA others(23): Show TAATAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0003 a0001c0001t0043g0003	1	68	0.0147	30	c.-16 others(51): Show c.-16+113299_-16+113300insTAAGAAGAAGAAGAAGAAGAAGAA GAAGAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6780304	T T	TATATATA others(23): Show TATATATATTTATACATATATATATTTATAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	68	0.0147	30	c.-16 others(51): Show c.-16+125666_-16+125667insACATATATATATTTATACATATAT ATTTAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6859129	A A	ATATACGT others(23): Show ATATACGTATATATATACGTATACGTATACG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0027 a0001c0001t0033g0027	1	68	0.0147	30	c.-15 others(51): Show c.-15-192928_-15-192927insTATACGTATATATATACGTATACG TATACG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15			chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6961135	T T	TCACACAC others(23): Show TCACACACACTCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	68	0.0147	30	c.-15 others(49): Show c.-15-90913_-15-90912insTCACACACACACACACACACACACAC ACAC	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7165387	G G	GTAATAAT others(23): Show GTAATAATAATAATAATAATAATAATAATAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0045 a0001c0001t0015g0045	1	68	0.0147	30	c.27+ others(49): Show c.27+113311_27+113312insAATAATAATAATAATAATAATAATAA TAAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7321077	G G	GTATACAT others(23): Show GTATACATATACATATACATATACATATACA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp2 NA20300.hp1 HG02738.hp1 HG02738.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0005g0066 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0005g0066	3	68	0.0441	30	c.28- others(49): Show c.28-197046_28-197017dupATATACATATACATATACATATACAT ATAC	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar

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