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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⚠️ 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
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(25): Show ATATATATATATATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18977.hp2 NA19088.hp2 NA18971.hp2 NA18977.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0168 a0001c0001t0001g0001 a0001c0001t0001g0168	3	306	0.0098	32	c.-35 others(43): Show c.-3577_-3576insTATATATATATATTTTTTTTTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(25): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	306	0.0033	32	c.-35 others(43): Show c.-3577_-3576insTATATATATATTTTTTTTTTTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(25): Show ATATATATATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 NA19012.hp2 HG02129.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0270 a0001c0001t0001g0034 a0001c0001t0001g0270	2	306	0.0065	32	c.-35 others(43): Show c.-3577_-3576insTATATATATTTTTTTTTTTTTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(25): Show ATATATATTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	306	0.0033	32	c.-35 others(43): Show c.-3577_-3576insTATATATTTTTTTTTTTTTTTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RBBP4_chr1_32646208_32691211	32687855	A A	ATTATTAT others(25): Show ATTATTATTATTATTATTATTATTATTATTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	312	0.0032	32	c.81 others(43): Show c.8150_*8151insTTATTATTATTATTATTATTATTATTATTATT	RBBP4	ENSG00000162521.19	transcript	ENST00000373493.10	protein_coding		1645		chr1	TogoVar
RBBP6_chr16_24534566_24577863	24543953	T T	TTCAAAGG others(25): Show TTCAAAGGACCAAGTCTGTTTTGAAGCCAACAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0140 a0001c0004t0001g0140	1	336	0.0030	32	c.167 others(49): Show c.167-2210_167-2209insTCAAAGGACCAAGTCTGTTTTGAAGCCA ACAG	RBBP6	ENSG00000122257.20	transcript	ENST00000319715.10	protein_coding	1/17			chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6450777	A A	ATACATAT others(25): Show ATACATATATATGTATATATATATACATATATG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0037 a0001c0001t0010g0037	1	68	0.0147	32	c.-64 others(53): Show c.-64+133722_-64+133723insCATATATATGTATATATATATACA TATATGTA	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(25): Show GACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03490.hp1 HG03831.hp2 HG02738.hp1 HG03490.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0031 a0001c0001t0002 a0001c0001t0005 a0001c0001t0031	a0001c0001t0002g0013 a0001c0001t0005g0058 a0001c0001t0031g0056 a0001c0001t0002g0013 a0001c0001t0005g0058 a0001c0001t0031g0056	3	68	0.0441	32	c.-63 others(53): Show c.-63-114766_-63-114765insCACACACACACACACACACACACA CACACACA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6578598	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	68	0.0147	32	c.-63 others(51): Show c.-63-75990_-63-75989insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	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(25): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(8): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00609.hp2 HG01192.hp2 HG01261.hp1 HG01261.hp2 HG02148.hp1 HG02148.hp2 HG03490.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0024 a0001c0001t0031 a0001c0001t0035	a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0002g0016 others(8): Show a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0002g0016 a0001c0001t0003g0010 a0001c0001t0013g0018 a0001c0001t0016g0011 a0001c0001t0017g0014 a0001c0001t0021g0062 a0001c0001t0024g0008 a0001c0001t0031g0056 a0001c0001t0035g0065	11	68	0.1618	32	c.-63 others(51): Show c.-63-75990_-63-75989insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGGG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6637123	T T	TTATATTA others(25): Show TTATATTATATATTAAATATATAATATACAATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0037 a0001c0001t0010g0037	1	68	0.0147	32	c.-63 others(51): Show c.-63-17465_-63-17434dupAATATATAATATACAATATATATTAT ATATTA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6940879	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18522.hp1 HG02965.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0041 a0001c0001t0014g0046 a0001c0001t0003g0041 a0001c0001t0014g0046	2	68	0.0294	32	c.-15 others(53): Show c.-15-111166_-15-111165insTGTGTGTGTGTGTGTGTGTTTGTG TGTGTGTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7034827	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTCTTTTTTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0045 a0001c0001t0015g0045	1	68	0.0147	32	c.-15 others(51): Show c.-15-17219_-15-17218insCTTTTTTCTTTTTTTTTTTTTTTTTT TTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7034848	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0054 a0001c0001t0012g0054	1	68	0.0147	32	c.-15 others(51): Show c.-15-17191_-15-17190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7079996	T T	TTGTGTAT others(25): Show TTGTGTATATATATATACATATATATACGTATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03209.hp1 HG03453.hp2 HG02965.hp1 HG03209.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0001t0001 a0001c0001t0003 a0001c0001t0018	a0001c0001t0001g0028 a0001c0001t0003g0050 a0001c0001t0018g0052 a0001c0001t0001g0028 a0001c0001t0003g0050 a0001c0001t0018g0052	3	68	0.0441	32	c.27+ others(49): Show c.27+27900_27+27931dupGTGTATATATATATACATATATATACGT ATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7217019	C C	CCCTCCCT others(25): Show CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0021 a0001c0001t0041g0021	1	68	0.0147	32	c.27+ others(51): Show c.27+164928_27+164929insTCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7225905	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	68	0.0147	32	c.27+ others(51): Show c.27+173822_27+173823insTATATATATATATATATATATATATA TATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7281020	C C	CTTCCTTC others(25): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03927.hp1 HG03139.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0041 a0001c0004t0001 a0001c0001t0041 a0001c0004t0001	a0001c0001t0041g0021 a0001c0004t0001g0060 a0001c0001t0041g0021 a0001c0004t0001g0060	2	68	0.0294	32	c.27+ others(51): Show c.27+228922_27+228923insTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15			chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7460370	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0034 a0002c0003t0034	a0002c0003t0034g0061 a0002c0003t0034g0061	1	68	0.0147	32	c.28- others(49): Show c.28-57757_28-57756insATATATATATATATATATATATATATAT ATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7460389	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA20300.hp2 HG03471.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0039 a0001c0001t0025 a0001c0001t0039	a0001c0001t0025g0048 a0001c0001t0039g0019 a0001c0001t0025g0048 a0001c0001t0039g0019	2	68	0.0294	32	c.28- others(49): Show c.28-57757_28-57756insATATATATATATATATATATATATATGT GTGT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7504739	A A	ATATATAT others(25): Show ATATATATATATATTTATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0027 a0001c0001t0033g0027	1	68	0.0147	32	c.28- others(49): Show c.28-13395_28-13394insTTATATATATATATATATTTATATATAT ATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7610118	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	68	0.0147	32	c.676 others(49): Show c.676+2801_676+2802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7341776	C C	CTCCTTCC others(25): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0118 a0001c0003t0005g0118	1	234	0.0043	32	c.87+ others(47): Show c.87+8710_87+8741dupCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7460370	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0014 a0003c0021t0014	a0003c0021t0014g0202 a0003c0021t0014g0202	1	234	0.0043	32	c.88- others(49): Show c.88-57757_88-57756insATATATATATATATATATATATATATAT ATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7460389	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02970.hp1 HG03471.hp2 others(2): Show HG02280.hp2 HG02970.hp1 HG03471.hp2 HG06807.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0013 a0001c0026	a0001c0001t0043 a0001c0003t0055 a0001c0005t0003 others(2): Show a0001c0001t0043 a0001c0003t0055 a0001c0005t0003 a0001c0013t0021 a0001c0026t0056	a0001c0001t0043g0213 a0001c0003t0055g0020 a0001c0005t0003g0212 others(2): Show a0001c0001t0043g0213 a0001c0003t0055g0020 a0001c0005t0003g0212 a0001c0013t0021g0124 a0001c0026t0056g0031	5	234	0.0214	32	c.88- others(49): Show c.88-57757_88-57756insATATATATATATATATATATATATATGT GTGT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7460389	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0036 a0001c0010t0003g0036	1	234	0.0043	32	c.88- others(49): Show c.88-57757_88-57756insATATATATATATATATATATATATGTGT GTGT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7504739	A A	ATATATAT others(25): Show ATATATATATATATTTATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0216 a0001c0005t0003g0216	1	234	0.0043	32	c.88- others(49): Show c.88-13395_88-13394insTTATATATATATATATATTTATATATAT ATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7572843	G G	GAATAAAT others(25): Show GAATAAATAAATAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0004 a0001c0022t0004	a0001c0022t0004g0035 a0001c0022t0004g0035	1	234	0.0043	32	c.331 others(49): Show c.331-6912_331-6911insTAAATAAATAAATAAATAAATAAATAAA TAAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7610118	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03453.hp1 HG02970.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0055 a0001c0006t0002 a0001c0003t0055 a0001c0006t0002	a0001c0003t0055g0020 a0001c0006t0002g0218 a0001c0003t0055g0020 a0001c0006t0002g0218	2	234	0.0086	32	c.736 others(49): Show c.736+2801_736+2802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7677132	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0092 a0001c0002t0008g0092	1	234	0.0043	32	c.105 others(49): Show c.1058+322_1058+323insACACACACACACACACACACACACACAC ACAC	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79150017	G G	GGGGTTGA others(25): Show GGGGTTGAGGGTGGGGGGTGGGGTGGGGGTTGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0111 a0001c0001t0027g0111	1	154	0.0065	32	c.-33 others(51): Show c.-33-34270_-33-34269insTCAACCCCCACCCCACCCCCCACCCT CAACCC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79173219	A A	AATACATA others(25): Show AATACATACATACATACATACATACATACATAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	154	0.0065	32	c.-33 others(51): Show c.-33-57472_-33-57471insGTATGTATGTATGTATGTATGTATGT ATGTAT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611169	T T	TCTCTCTC others(25): Show TCTCTCTCGCTCTCGCTCTCGCTCTCGCTCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	154	0.0065	32	c.-66 others(41): Show c.-664_-663insCGAGAGCGAGAGCGAGAGCGAGAGCGAGAGAG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		119		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611169	T T	TCTCTCTC others(25): Show TCTCTCTCTCTCTCTCTCTCTCTCTCGCTCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	154	0.0065	32	c.-66 others(41): Show c.-664_-663insCGAGAGCGAGAGAGAGAGAGAGAGAGAGAGAG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		119		chr17	TogoVar
RBL1_chr20_36991349_37100997	37002336	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01123.hp2 HG02300.hp1 HG01109.hp1 HG01123.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0271 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0271	3	354	0.0085	32	c.303 others(51): Show c.3036+1365_3036+1366insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	RBL1	ENSG00000080839.12	transcript	ENST00000373664.8	protein_coding	21/21			chr20	TogoVar
RBM11_chr21_14211157_14233372	14231830	T T	TAACATTT others(25): Show TAACATTTGTTATTACCTGTTTAGAGTTTAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG02486.hp2 HG02976.hp1 others(2): Show HG01099.hp1 HG02486.hp2 HG02976.hp1 HG03209.hp2 HG03471.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0006 a0001c0001 a0008c0006	a0001c0001t0009 a0008c0006t0009 a0001c0001t0009 a0008c0006t0009	a0001c0001t0009g0067 a0001c0001t0009g0068 a0001c0001t0009g0071 others(2): Show a0001c0001t0009g0067 a0001c0001t0009g0068 a0001c0001t0009g0071 a0008c0006t0009g0093 a0008c0006t0009g0094	5	458	0.0109	32	c.45 others(43): Show c.4537_*4538insAACATTTGTTATTACCTGTTTAGAGTTTAAAG	RBM11	ENSG00000185272.14	transcript	ENST00000400577.4	protein_coding		3459		chr21	TogoVar
RBM17_chr10_6084034_6122447	6085823	A A	AGAAGGAA others(25): Show AGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0206 a0001c0001t0031g0206	1	434	0.0023	32	c.-33 others(43): Show c.-3389_-3388insGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG	RBM17	ENSG00000134453.16	transcript	ENST00000379888.9	protein_coding		3210		chr10	TogoVar
RBM19_chr12_113817057_113971325	113879446	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	356	0.0028	32	c.255 others(53): Show c.2559-20551_2559-20550insGTATATATATATATATATATATAT ATATATAT	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	21/23			chr12	TogoVar
RBM19_chr12_113817057_113971325	113941552	C C	CCCATCCA others(25): Show CCCATCCATCCATCCATCCATCCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01167.hp1 HG02055.hp1 others(19): Show HG01081.hp2 HG01167.hp1 HG02055.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp2 HG03209.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2 NA18969.hp1 NA18993.hp2 NA19240.hp1	a0003 a0004 a0010 others(1): Show a0003 a0004 a0010 a0021	a0003c0002 a0004c0007 a0004c0008 others(4): Show a0003c0002 a0004c0007 a0004c0008 a0004c0033 a0010c0032 a0010c0035 a0021c0034	a0003c0002t0002 a0004c0007t0001 a0004c0007t0006 others(5): Show a0003c0002t0002 a0004c0007t0001 a0004c0007t0006 a0004c0008t0007 a0004c0033t0001 a0010c0032t0006 a0010c0035t0001 a0021c0034t0006	a0003c0002t0002g0056 a0003c0002t0002g0057 a0004c0007t0001g0136 others(19): Show a0003c0002t0002g0056 a0003c0002t0002g0057 a0004c0007t0001g0136 a0004c0007t0001g0228 a0004c0007t0001g0229 a0004c0007t0001g0232 a0004c0007t0001g0233 a0004c0007t0001g0234 a0004c0007t0001g0244 a0004c0007t0001g0245 a0004c0007t0001g0301 a0004c0007t0006g0226 a0004c0008t0007g0227 a0004c0008t0007g0236 a0004c0008t0007g0237 a0004c0008t0007g0239 a0004c0008t0007g0240 a0004c0008t0007g0241 a0004c0033t0001g0235 a0010c0032t0006g0231 a0010c0035t0001g0238 a0021c0034t0006g0230	22	356	0.0618	32	c.173 others(49): Show c.1737+771_1737+772insATGGATGGATGGATGGATGGATGGATGG ATGG	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	14/23			chr12	TogoVar
RBM23_chr14_22888204_22924149	22910151	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0064 a0002c0002t0064	a0002c0002t0064g0117 a0002c0002t0064g0117	1	362	0.0028	32	c.67- others(45): Show c.67-557_67-556insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RBM23	ENSG00000100461.18	transcript	ENST00000359890.8	protein_coding	2/13			chr14	TogoVar
RBM24_chr6_17276361_17298871	17295021	C C	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 NA18993.hp2 NA19010.hp1 HG00438.hp1 NA18993.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0062 a0001c0001t0001g0001 a0001c0001t0001g0062	3	442	0.0068	32	c.29 others(43): Show c.2902_*2903insTATATATATATATATATATATATATATATATA	RBM24	ENSG00000112183.15	transcript	ENST00000379052.10	protein_coding		1151		chr6	TogoVar
RBM25_chr14_73053534_73128899	73069746	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	388	0.0026	32	c.-15 others(49): Show c.-15-1879_-15-1848dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
RBM25_chr14_73053534_73128899	73105038	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01261.hp2 HG01168.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0008g0009 a0001c0001t0008g0010	2	388	0.0052	32	c.115 others(49): Show c.1155-794_1155-793insCACACACACACACACACACACACACACA CACA	RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
RBM33_chr7_155639661_155786480	155673940	G G	GTTGTTGT others(25): Show GTTGTTGTTTGTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02738.hp2 HG00544.hp2 HG02738.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0035 a0002c0001t0062 a0002c0001t0035 a0002c0001t0062	a0002c0001t0035g0250 a0002c0001t0062g0020 a0002c0001t0035g0250 a0002c0001t0062g0020	2	306	0.0065	32	c.171 others(49): Show c.171+1027_171+1028insGTTGTTTGTTTTTTTTTTTTTTTTTTTT TTTT	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM42_chr19_35624036_35642685	35638908	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	32	c.13 others(43): Show c.1354_*1355insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RBM42	ENSG00000126254.12	transcript	ENST00000262633.9	protein_coding		1224		chr19	TogoVar
RBM47_chr4_40418280_40634864	40437091	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATAAAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0071 a0002c0007t0071	a0002c0007t0071g0075 a0002c0007t0071g0075	1	278	0.0036	32	c.112 others(49): Show c.1124-445_1124-444insATTTATATATATATATATATTTTTTTTT TTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40437091	A A	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATAAAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0080 a0001c0004t0080	a0001c0004t0080g0137 a0001c0004t0080g0137	1	278	0.0036	32	c.112 others(49): Show c.1124-445_1124-444insATTTATATATATATATATATATTTTTTT TTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40437159	T T	TATATATA others(25): Show TATATATATAAAATACATATATATATAAAATAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp2 HG01074.hp1 HG01081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0100 a0002c0002t0015 a0001c0001t0100 a0002c0002t0015	a0001c0001t0100g0118 a0002c0002t0015g0113 a0001c0001t0100g0118 a0002c0002t0015g0113	2	278	0.0072	32	c.112 others(49): Show c.1124-513_1124-512insGTATTTTATATATATATGTATTTTATAT ATAT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40498054	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18747.hp1 NA18949.hp1 others(2): Show HG02071.hp2 NA18747.hp1 NA18949.hp1 NA18953.hp2 NA18986.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0021 a0002c0002t0004 a0002c0002t0047 others(1): Show a0001c0001t0021 a0002c0002t0004 a0002c0002t0047 a0002c0005t0103	a0001c0001t0021g0013 a0001c0001t0021g0023 a0002c0002t0004g0062 others(2): Show a0001c0001t0021g0013 a0001c0001t0021g0023 a0002c0002t0004g0062 a0002c0002t0047g0238 a0002c0005t0103g0060	5	278	0.0180	32	c.-15 others(53): Show c.-154-31356_-154-31355insTATATATATATATATATATATATA TATATATA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	2/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40573807	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp2 HG01243.hp1 others(12): Show HG00558.hp1 HG00673.hp2 HG01243.hp1 HG02074.hp2 HG02258.hp2 HG02559.hp2 HG02622.hp1 HG02965.hp2 HG03225.hp2 NA18906.hp2 NA18957.hp2 NA19057.hp1 NA19074.hp2 NA19085.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0002c0002 a0002c0005 a0002c0007 a0002c0009	a0001c0001t0002 a0001c0001t0048 a0001c0001t0069 others(12): Show a0001c0001t0002 a0001c0001t0048 a0001c0001t0069 a0001c0003t0001 a0001c0003t0024 a0001c0003t0123 a0001c0004t0052 a0001c0004t0125 a0001c0006t0012 a0002c0002t0010 a0002c0002t0128 a0002c0005t0004 a0002c0005t0015 a0002c0007t0006 a0002c0009t0008	a0001c0001t0002g0179 a0001c0001t0048g0267 a0001c0001t0069g0009 others(12): Show a0001c0001t0002g0179 a0001c0001t0048g0267 a0001c0001t0069g0009 a0001c0003t0001g0169 a0001c0003t0024g0082 a0001c0003t0123g0275 a0001c0004t0052g0001 a0001c0004t0125g0246 a0001c0006t0012g0141 a0002c0002t0010g0037 a0002c0002t0128g0237 a0002c0005t0004g0028 a0002c0005t0015g0053 a0002c0007t0006g0017 a0002c0009t0008g0043	15	278	0.0540	32	c.-23 others(53): Show c.-239-29302_-239-29301insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar

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