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
RASAL2_chr1_178089104_178483850	178180663	T T	TCACACAC others(27): Show TCACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA21309.hp2 HG01891.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0117 a0001c0001t0002g0118	2	180	0.0111	34	c.202 others(53): Show c.202+85998_202+85999insACACACACACACACACACACACACAC ACACACAC	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(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01074.hp2 HG01071.hp1 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0029 a0001c0001t0003g0011 a0001c0001t0003g0029	2	180	0.0111	34	c.564 others(51): Show c.564+5586_564+5587insATATATATATATATATATATATATATAT ATATAT	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(27): Show AAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	316	0.0032	34	c.-7+ others(49): Show c.-7+4999_-7+5000insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTTT	RASGEF1B	ENSG00000138670.19	transcript	ENST00000264400.7	protein_coding	1/13			chr4	TogoVar
RASGEF1B_chr4_81421393_81476907	81466770	A A	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01257.hp1 HG01978.hp2 HG01106.hp2 HG01257.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0014g0007 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0014g0007	3	316	0.0095	34	c.-7+ others(49): Show c.-7+4999_-7+5000insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	RASGEF1B	ENSG00000138670.19	transcript	ENST00000264400.7	protein_coding	1/13			chr4	TogoVar
RASGEF1C_chr5_180095795_180214211	180209113	G G	GCCGCCGC others(27): Show GCCGCCGCCGCCGCCGCCGCCGACCGGGGCGCCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01975.hp2 HG02155.hp2 NA18944.hp1 others(4): Show HG01975.hp2 HG02155.hp2 NA18944.hp1 NA18966.hp2 NA18995.hp1 NA19004.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0033 a0001c0001t0054 a0001c0002t0033 others(4): Show a0001c0001t0033 a0001c0001t0054 a0001c0002t0033 a0001c0002t0053 a0001c0002t0055 a0001c0003t0032 a0001c0004t0032	a0001c0001t0033g0019 a0001c0001t0054g0022 a0001c0002t0033g0020 others(4): Show a0001c0001t0033g0019 a0001c0001t0054g0022 a0001c0002t0033g0020 a0001c0002t0053g0017 a0001c0002t0055g0023 a0001c0003t0032g0018 a0001c0004t0032g0021	7	370	0.0189	34	c.-93 others(41): Show c.-93_-92insGCGGCGCCCCGGTCGGCGGCGGCGGCGGCGGCGG	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	1/14	71062		chr5	TogoVar
RASGRF1_chr15_78954906_79095780	79061413	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0135 a0001c0003t0001g0135	1	314	0.0032	34	c.384 others(51): Show c.384-2933_384-2932insATATATATATATATATATATATATATAT ATATAT	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding	2/26			chr15	TogoVar
RASGRF1_chr15_78954906_79095780	79078147	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGCATGTGTC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	314	0.0032	34	c.276 others(53): Show c.276+12075_276+12076insGACACATGCACACACACACACACACA CACACACA	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding	1/26			chr15	TogoVar
RASL11B_chr4_52857317_52871835	52869869	C C	CGTGGAAT others(27): Show CGTGGAATGGGCCTGTCGTGTGTGGAACATGAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0001 a0001c0001t0018g0001	1	428	0.0023	34	c.40 others(45): Show c.4064_*4065insGTGGAATGGGCCTGTCGTGTGTGGAACATGAGGT	RASL11B	ENSG00000128045.7	transcript	ENST00000248706.5	protein_coding		3035		chr4	TogoVar
RASSF3_chr12_64605495_64702564	64641414	A A	ACACACAC others(27): Show ACACACACACACACACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0023 a0001c0002t0021g0023	1	370	0.0027	34	c.111 others(53): Show c.111+30672_111+30673insACACACACACACACACACACACACAC ACACACGC	RASSF3	ENSG00000153179.14	transcript	ENST00000542104.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
RASSF5_chr1_206502531_206594448	206523900	T T	TATATATT others(27): Show TATATATTTTATATATAATATATATACCATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03209.hp2 HG02965.hp2 HG03209.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0030 a0001c0004t0003 a0001c0004t0030	a0001c0004t0003g0102 a0001c0004t0030g0043 a0001c0004t0003g0102 a0001c0004t0030g0043	2	346	0.0058	34	c.458 others(53): Show c.458-14217_458-14184dupATATACCATATATAATATATTTTATA TATAATAT	RASSF5	ENSG00000266094.8	transcript	ENST00000579436.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
RASSF5_chr1_206502531_206594448	206523988	T T	TGTATACC others(27): Show TGTATACCATATATAGTATATTTTATATATAATAG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0108	1	346	0.0029	34	c.458 others(53): Show c.458-14179_458-14178insCCATATATAGTATATTTTATATATAA TAGGTATA	RASSF5	ENSG00000266094.8	transcript	ENST00000579436.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
RASSF5_chr1_206502531_206594448	206524221	A A	ATATAGAT others(27): Show ATATAGATACCATATGTAATACATTTTATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01952.hp2 others(7): Show HG01256.hp1 HG01258.hp1 HG01952.hp2 HG01978.hp2 HG02965.hp2 HG03209.hp2 HG03453.hp1 HG03516.hp2 NA19010.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 a0001c0001 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 a0001c0004t0003 a0001c0004t0005 a0001c0004t0006 a0001c0004t0030 a0001c0008t0005	a0001c0001t0001g0014 a0001c0001t0005g0045 a0001c0001t0017g0044 others(6): Show a0001c0001t0001g0014 a0001c0001t0005g0045 a0001c0001t0017g0044 a0001c0004t0003g0102 a0001c0004t0005g0018 a0001c0004t0006g0019 a0001c0004t0030g0043 a0001c0008t0005g0106 a0001c0008t0005g0107	10	346	0.0289	34	c.458 others(53): Show c.458-13889_458-13856dupTATATATTATAGATACCATATGTAAT ACATTTTA	RASSF5	ENSG00000266094.8	transcript	ENST00000579436.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(27): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG04204.hp2 NA18975.hp1 others(2): Show HG02148.hp1 HG04204.hp2 NA18975.hp1 NA19066.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0143 others(2): Show a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0184 a0001c0001t0001g0274	5	306	0.0163	34	c.-35 others(45): Show c.-3577_-3576insTATATATATATATTTTTTTTTTTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(27): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00733.hp2 HG02155.hp1 HG00323.hp1 HG00733.hp2 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0099 a0001c0001t0001g0276 a0001c0001t0001g0040 a0001c0001t0001g0099 a0001c0001t0001g0276	3	306	0.0098	34	c.-35 others(45): Show c.-3577_-3576insTATATATATATTTTTTTTTTTTTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(27): Show ATATATATATTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	306	0.0033	34	c.-35 others(45): Show c.-3577_-3576insTATATATATTTTTTTTTTTTTTTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RBBP6_chr16_24534566_24577863	24573840	A A	AGAATCTT others(27): Show AGAATCTTAGTACAGAACAAAATGGAGTCTCCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0148	1	336	0.0030	34	c.13 others(45): Show c.1395_*1396insGAATCTTAGTACAGAACAAAATGGAGTCTCCTAT	RBBP6	ENSG00000122257.20	transcript	ENST00000319715.10	protein_coding		978		chr16	TogoVar
RBBP8_chr18_22928328_23031486	23022602	A A	AAAAATAA others(27): Show AAAAATAAAATAAAATAAAATAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02698.hp1 HG03710.hp1 HG01243.hp2 HG02698.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287	3	330	0.0091	34	c.259 others(51): Show c.2596+355_2596+356insTAAAATAAAATAAAATAAAATAAAATAA AATAAA	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr18	TogoVar
RBFOX1_chr16_6014024_7718340	6143959	C C	CCACATAT others(27): Show CCACATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	68	0.0147	34	c.-12 others(57): Show c.-127+123967_-127+123968insCACATATATATATATATATATA TATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	1/15			chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6407566	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTCACAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0009 a0001c0001t0022g0009	1	68	0.0147	34	c.-64 others(53): Show c.-64+90510_-64+90511insTGTGTGTGTGTGTGTCACAGAGAGAG AGAGAGAG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6450777	A A	ATACATAT others(27): Show ATACATATATATATGTATATATATATACATATATG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03098.hp2 HG02976.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0030 a0001c0001t0009g0036 a0001c0001t0001g0030 a0001c0001t0009g0036	2	68	0.0294	34	c.-64 others(55): Show c.-64+133722_-64+133723insCATATATATATGTATATATATATA CATATATGTA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6634774	A A	AATATATA others(27): Show AATATATAATACAAAGATATACATATATTTGTATT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0009 a0001c0001t0022g0009	1	68	0.0147	34	c.-63 others(53): Show c.-63-19783_-63-19750dupAAAGATATACATATATTTGTATTATA TATAATAC	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6634789	G G	GATATACA others(27): Show GATATACATATATTTGTATTATATATAATACAAAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0034 a0001c0001t0008g0034	1	68	0.0147	34	c.-63 others(53): Show c.-63-19781_-63-19780insTATATACATATATTTGTATTATATAT AATACAAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6636813	A A	AATATATA others(27): Show AATATATATAATATATGTTATATATAATATATAAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0047 a0001c0001t0023g0047	1	68	0.0147	34	c.-63 others(53): Show c.-63-17783_-63-17782insTAATATATGTTATATATAATATATAA TATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6637225	C C	CAATATAT others(27): Show CAATATATATTATATATTATATTATATAATATACA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	68	0.0147	34	c.-63 others(53): Show c.-63-17357_-63-17356insTATATAATATACAAATATATATTATA TATTATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6961135	T T	TCACACAC others(27): Show TCACACACACTCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0038 a0001c0001t0006g0038	1	68	0.0147	34	c.-15 others(53): Show c.-15-90913_-15-90912insTCACACACACACACACACACACACAC ACACACAC	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6981042	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	68	0.0147	34	c.-15 others(53): Show c.-15-70998_-15-70997insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7225905	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0024 a0001c0001t0030g0024	1	68	0.0147	34	c.27+ others(53): Show c.27+173822_27+173823insTATATATATATATATATATATATATA TATATATA	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(27): Show ATATATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0051 a0001c0001t0026g0051	1	68	0.0147	34	c.28- others(51): Show c.28-57757_28-57756insATATATATATATATATATATGTGTGTGT GTGTGT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7504757	A A	ATATTTAT others(27): Show ATATTTATATATATATATATTTATATATATATATT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0023 a0001c0002t0038g0023	1	68	0.0147	34	c.28- others(51): Show c.28-13387_28-13386insTTATATATATATATATTTATATATATAT ATTTAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7567255	A A	ATATATAT others(27): Show ATATATATCCCTATATATATCCCTATATATATCCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00609.hp1 others(13): Show HG00140.hp2 HG00280.hp1 HG00609.hp1 HG01175.hp1 HG01261.hp2 HG02451.hp2 HG02559.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp2 NA19043.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0033 a0001c0001t0039 a0001c0001t0043 a0001c0002t0038 a0003c0005t0003	a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0005g0058 others(13): Show a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0005g0058 a0001c0001t0006g0038 a0001c0001t0013g0018 a0001c0001t0015g0045 a0001c0001t0016g0011 a0001c0001t0020g0002 a0001c0001t0022g0009 a0001c0001t0024g0008 a0001c0001t0025g0048 a0001c0001t0033g0027 a0001c0001t0039g0019 a0001c0001t0043g0003 a0001c0002t0038g0023 a0003c0005t0003g0043	16	68	0.2353	34	c.271 others(53): Show c.271-12515_271-12514insCCCTATATATATCCCTATATATATCC CTATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7610118	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0021 a0001c0001t0041g0021	1	68	0.0147	34	c.676 others(51): Show c.676+2801_676+2802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7460389	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	234	0.0043	34	c.88- others(51): Show c.88-57757_88-57756insATATATATATATATATATATATATATGT GTGTGT	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(27): Show ATATATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0024 a0001c0003t0004g0024	1	234	0.0043	34	c.88- others(51): Show c.88-57757_88-57756insATATATATATATATATATATGTGTGTGT GTGTGT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7504757	A A	ATATTTAT others(27): Show ATATTTATATATATATATATTTATATATATATATT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0054 a0001c0016t0054	a0001c0016t0054g0021 a0001c0016t0054g0021	1	234	0.0043	34	c.88- others(51): Show c.88-13387_88-13386insTTATATATATATATATTTATATATATAT ATTTAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7567255	A A	ATATATAT others(27): Show ATATATATCCCTATATATATCCCTATATATATCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(55): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG01169.hp2 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01361.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02129.hp1 HG02129.hp2 HG02257.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03195.hp1 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03831.hp2 HG03942.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18969.hp1 NA18971.hp2 NA18983.hp2 NA18986.hp1 NA18989.hp1 NA19043.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0016 a0001c0023 a0001c0026 a0001c0027 a0001c0029 a0001c0030 a0001c0032 a0004c0035	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(36): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0043 a0001c0001t0046 a0001c0001t0049 a0001c0002t0002 a0001c0002t0008 a0001c0002t0019 a0001c0002t0036 a0001c0003t0002 a0001c0003t0005 a0001c0003t0055 a0001c0004t0011 a0001c0004t0012 a0001c0004t0015 a0001c0004t0045 a0001c0005t0003 a0001c0006t0001 a0001c0006t0002 a0001c0008t0009 a0001c0009t0001 a0001c0011t0013 a0001c0011t0044 a0001c0012t0005 a0001c0013t0021 a0001c0016t0054 a0001c0023t0022 a0001c0026t0056 a0001c0027t0020 a0001c0029t0020 a0001c0030t0002 a0001c0032t0008 a0004c0035t0002	a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0050 others(55): Show a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0078 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0109 a0001c0001t0001g0137 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0200 a0001c0001t0006g0131 a0001c0001t0006g0155 a0001c0001t0010g0141 a0001c0001t0025g0139 a0001c0001t0026g0019 a0001c0001t0028g0199 a0001c0001t0030g0135 a0001c0001t0031g0068 a0001c0001t0043g0213 a0001c0001t0046g0062 a0001c0001t0049g0113 a0001c0002t0002g0034 a0001c0002t0008g0003 a0001c0002t0008g0049 a0001c0002t0008g0092 a0001c0002t0019g0126 a0001c0002t0036g0091 a0001c0003t0002g0149 a0001c0003t0005g0118 a0001c0003t0055g0020 a0001c0004t0011g0108 a0001c0004t0012g0154 a0001c0004t0012g0195 a0001c0004t0015g0134 a0001c0004t0045g0138 a0001c0005t0003g0022 a0001c0005t0003g0122 a0001c0005t0003g0216 a0001c0006t0001g0007 a0001c0006t0002g0005 a0001c0006t0002g0218 a0001c0008t0009g0211 a0001c0009t0001g0129 a0001c0011t0013g0069 a0001c0011t0044g0104 a0001c0012t0005g0040 a0001c0012t0005g0173 a0001c0013t0021g0124 a0001c0016t0054g0021 a0001c0023t0022g0231 a0001c0026t0056g0031 a0001c0027t0020g0038 a0001c0029t0020g0214 a0001c0030t0002g0232 a0001c0032t0008g0076 a0004c0035t0002g0090	58	234	0.2479	34	c.331 others(53): Show c.331-12515_331-12514insCCCTATATATATCCCTATATATATCC CTATATAT	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(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0014 a0001c0001t0033g0014	1	234	0.0043	34	c.736 others(51): Show c.736+2801_736+2802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79149995	G G	GGTGGGGG others(27): Show GGTGGGGGGTGTGGGTGGGGGATGGGGATGGGGGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	154	0.0065	34	c.-33 others(53): Show c.-33-34248_-33-34247insACCCCCATCCCCATCCCCCACCCACA CCCCCCAC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611169	T T	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCTCTCTCGCTCTCGCTCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0018 a0001c0001t0015g0018	1	154	0.0065	34	c.-66 others(43): Show c.-664_-663insCGAGAGCGAGAGCGAGAGAGAGAGAGAGAGAGAG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		119		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611174	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCCGCCCTCCTTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	154	0.0065	34	c.-66 others(43): Show c.-669_-668insAGAGAGAGAAGGAGGGCGGAGAGAGAGAGAGAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		124		chr17	TogoVar
RBIS_chr8_85209048_85225374	85212918	C C	CTGTCATC others(27): Show CTGTCATCCAGGCTGGAGTGTCATCCAGGCTGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	368	0.0027	34	c.16 others(45): Show c.1608_*1641dupCTCCAGCCTGGATGACACTCCAGCCTGGATGACA	RBIS	ENSG00000176731.12	transcript	ENST00000619594.5	protein_coding		1129		chr8	TogoVar
RBL1_chr20_36991349_37100997	37002336	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0322 a0001c0001t0002g0322	1	354	0.0028	34	c.303 others(53): Show c.3036+1365_3036+1366insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	RBL1	ENSG00000080839.12	transcript	ENST00000373664.8	protein_coding	21/21			chr20	TogoVar
RBL2_chr16_53429471_53496648	53457258	C C	CCTTTTTT others(27): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03710.hp1 HG03516.hp2 HG03710.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0003 a0002c0004t0003 a0001c0003t0003 a0002c0004t0003	a0001c0003t0003g0142 a0002c0004t0003g0194 a0001c0003t0003g0142 a0002c0004t0003g0194	2	276	0.0073	34	c.118 others(53): Show c.1180-2193_1180-2192insCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	RBL2	ENSG00000103479.17	transcript	ENST00000262133.11	protein_coding	8/21			chr16	TogoVar
RBM19_chr12_113817057_113971325	113879446	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0293 a0001c0001t0002g0293	1	356	0.0028	34	c.255 others(55): Show c.2559-20551_2559-20550insGTATATATATATATATATATATAT ATATATATAT	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	21/23			chr12	TogoVar
RBM23_chr14_22888204_22924149	22910151	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0058 a0002c0002t0058	a0002c0002t0058g0220 a0002c0002t0058g0220	1	362	0.0028	34	c.67- others(47): Show c.67-557_67-556insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	RBM23	ENSG00000100461.18	transcript	ENST00000359890.8	protein_coding	2/13			chr14	TogoVar
RBM24_chr6_17276361_17298871	17295021	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	442	0.0023	34	c.29 others(45): Show c.2902_*2903insTATATATATATATATATATATATATATATATATA	RBM24	ENSG00000112183.15	transcript	ENST00000379052.10	protein_coding		1151		chr6	TogoVar
RBM26_chr13_79313868_79411255	79392113	A A	AATTATAT others(27): Show AATTATATAATTATGTTATACAATAATACATAATT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01884.hp2 HG02451.hp2 others(4): Show HG00735.hp2 HG01884.hp2 HG02451.hp2 HG02572.hp1 HG02717.hp1 HG03225.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0008 a0001c0002t0003 a0001c0002t0008	a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0204 others(4): Show a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0204 a0001c0002t0003g0206 a0001c0002t0003g0207 a0001c0002t0003g0208 a0001c0002t0008g0203	7	328	0.0213	34	c.72- others(51): Show c.72-13207_72-13206insAATTATGTATTATTGTATAACATAATTA TATAAT	RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	1/21			chr13	TogoVar
RBM33_chr7_155639661_155786480	155673648	G G	GTATATAT others(27): Show GTATATATATACACGCATATACATACACACGTGTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0088 a0001c0003t0088	a0001c0003t0088g0284 a0001c0003t0088g0284	1	306	0.0033	34	c.171 others(49): Show c.171+741_171+742insTACACGCATATACATACACACGTGTATATA TATA	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(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG03017.hp1 HG01934.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	428	0.0047	34	c.13 others(45): Show c.1354_*1355insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RBM42	ENSG00000126254.12	transcript	ENST00000262633.9	protein_coding		1224		chr19	TogoVar
RBM42_chr19_35624036_35642685	35639701	G G	GAGACACA others(27): Show GAGACACACACACATAGAATGTGGCAAGCAGAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	428	0.0023	34	c.21 others(45): Show c.2147_*2148insAGACACACACACATAGAATGTGGCAAGCAGAGGT	RBM42	ENSG00000126254.12	transcript	ENST00000262633.9	protein_coding		2017		chr19	TogoVar
RBM47_chr4_40418280_40634864	40437091	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATAAAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0073 a0002c0007t0073	a0002c0007t0073g0072 a0002c0007t0073g0072	1	278	0.0036	34	c.112 others(51): Show c.1124-445_1124-444insATTTATATATATATATATATATTTTTTT TTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar

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