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
RASSF6_chr4_73566550_73625436	73600106	C C	CTTCTCCC others(12): Show CTTCTCCCAGCATTTCATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	338	0.0030	19	c.66- others(34): Show c.66-1407_66-1389dupATATGAAATGCTGGGAGAA	RASSF6	ENSG00000169435.14	transcript	ENST00000307439.10	protein_coding	2/10			chr4	TogoVar
RAVER1_chr19_10311212_10338529	10313671	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 NA18939.hp2 HG02055.hp1 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0147 a0001c0002t0001g0176 a0001c0002t0001g0147 a0001c0002t0001g0176	2	438	0.0046	19	c.37 others(30): Show c.3782_*3783insATATATATATATATATATA	RAVER1	ENSG00000161847.15	transcript	ENST00000617231.5	protein_coding		2540		chr19	TogoVar
RAVER1_chr19_10311212_10338529	10313671	A A	ATATATAT others(12): Show ATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	438	0.0023	19	c.37 others(30): Show c.3782_*3783insAAATATATATATATATATA	RAVER1	ENSG00000161847.15	transcript	ENST00000617231.5	protein_coding		2540		chr19	TogoVar
RAVER1_chr19_10311212_10338529	10313672	T T	TATATATA others(12): Show TATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02895.hp1 HG02897.hp2 others(1): Show HG02083.hp2 HG02895.hp1 HG02897.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0138 a0001c0002t0001g0175 others(1): Show a0001c0002t0001g0023 a0001c0002t0001g0138 a0001c0002t0001g0175 a0001c0002t0001g0191	4	438	0.0091	19	c.37 others(30): Show c.3781_*3782insTATATATATATATATATAT	RAVER1	ENSG00000161847.15	transcript	ENST00000617231.5	protein_coding		2539		chr19	TogoVar
RB1CC1_chr8_52617458_52719435	52699830	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19064.hp2 NA18971.hp2 NA19064.hp2	a0001 a0007 a0001 a0007	a0001c0004 a0007c0011 a0001c0004 a0007c0011	a0001c0004t0001 a0007c0011t0001 a0001c0004t0001 a0007c0011t0001	a0001c0004t0001g0021 a0007c0011t0001g0074 a0001c0004t0001g0021 a0007c0011t0001g0074	2	306	0.0065	19	c.-16 others(40): Show c.-166-12864_-166-12863insATATATATATATATATTTT	RB1CC1	ENSG00000023287.13	transcript	ENST00000025008.10	protein_coding	1/23			chr8	TogoVar
RB1_chr13_48298751_48486890	48300332	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	306	0.0033	19	c.-35 others(30): Show c.-3581_-3580insTTTTTTTTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3418		chr13	TogoVar
RBBP7_chrX_16839341_16875362	16866554	A A	AAAAAAAG others(12): Show AAAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0172 a0001c0001t0004g0172	1	316	0.0032	19	c.161 others(36): Show c.161+2521_161+2522insCTTTCTTTCTTTCTTTTTT	RBBP7	ENSG00000102054.18	transcript	ENST00000380087.7	protein_coding	2/11			chrX	TogoVar
RBBP7_chrX_16839341_16875362	16870542	C C	CCGCGGAG others(12): Show CCGCGGAGGCGGATGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	316	0.0032	19	c.-49 others(28): Show c.-490_-489insCGCCCCATCCGCCTCCGCG	RBBP7	ENSG00000102054.18	transcript	ENST00000380087.7	protein_coding		181		chrX	TogoVar
RBBP8_chr18_22928328_23031486	22929510	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	330	0.0030	19	c.-41 others(30): Show c.-4153_-4152insTGTGTGTGTGTGTGTGTTT	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding		3817		chr18	TogoVar
RBCK1_chr20_403299_437139	407982	C C	CCGCCCAC others(12): Show CCGCCCACCCCGCCTCGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	2	452	0.0044	19	c.-77 others(28): Show c.-776_-775insCGCCCACCCCGCCTCGCGG	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding		316		chr20	TogoVar
RBFOX1_chr16_6014024_7718340	6193358	A A	ATATATAT others(12): Show ATATATATATATATACACAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0045 a0001c0001t0015g0045	1	68	0.0147	19	c.-12 others(42): Show c.-126-123623_-126-123622insCACATTATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6542483	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0001 a0001c0001t0029g0001	1	68	0.0147	19	c.-63 others(40): Show c.-63-112114_-63-112096dupTTTTTTTTTTTTTTTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6780486	A A	ATATACAT others(12): Show ATATACATTTTTTATATATT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0064 a0001c0001t0040g0064	1	68	0.0147	19	c.-16 others(40): Show c.-16+125837_-16+125838insATACATTTTTTATATATTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6806836	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	68	0.0147	19	c.-16 others(40): Show c.-16+152187_-16+152188insATATATATATATATATATT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7022030	T T	TCCCCTTC others(12): Show TCCCCTTCCCCCTCCCCTTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0054 a0001c0001t0012g0054	1	68	0.0147	19	c.-15 others(38): Show c.-15-30022_-15-30021insTCCCCCTCCCCTTCCCCCT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7034826	A A	ACTTTTTT others(12): Show ACTTTTTTTTTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01261.hp1 HG02965.hp2 others(1): Show HG01099.hp2 HG01261.hp1 HG02965.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0032	a0001c0001t0001g0063 a0001c0001t0003g0041 a0001c0001t0014g0046 others(1): Show a0001c0001t0001g0063 a0001c0001t0003g0041 a0001c0001t0014g0046 a0001c0001t0032g0068	4	68	0.0588	19	c.-15 others(38): Show c.-15-17219_-15-17218insCTTTTTTCTTTTTTTTTTT	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(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0002 a0001c0001t0020g0002	1	68	0.0147	19	c.-15 others(38): Show c.-15-17191_-15-17190insTTTTTTTTTTTTTTTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7448927	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0021 a0001c0001t0041g0021	1	68	0.0147	19	c.28- others(36): Show c.28-69219_28-69201dupTTTTTTTTTTTTTTTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7564540	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	68	0.0147	19	c.271 others(38): Show c.271-15227_271-15209dupAAAAAAAAAAAAAAAAAAA	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(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0019 a0001c0001t0039g0019	1	68	0.0147	19	c.676 others(36): Show c.676+2783_676+2801dupTTTTTTTTTTTTTTTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7448927	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0014 a0001c0001t0033g0014	1	234	0.0043	19	c.88- others(36): Show c.88-69219_88-69201dupTTTTTTTTTTTTTTTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7564540	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03098.hp2 HG02486.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0013 a0001c0003 a0001c0013	a0001c0003t0004 a0001c0013t0021 a0001c0003t0004 a0001c0013t0021	a0001c0003t0004g0217 a0001c0013t0021g0121 a0001c0003t0004g0217 a0001c0013t0021g0121	2	234	0.0086	19	c.331 others(38): Show c.331-15227_331-15209dupAAAAAAAAAAAAAAAAAAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7589912	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	234	0.0043	19	c.528 others(36): Show c.528+2612_528+2613insTGTGTGTGTGTGTGTGTGT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	4/13			chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7610118	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03704.hp2 HG04199.hp1 others(1): Show HG03471.hp2 HG03704.hp2 HG04199.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0026 a0001c0001 a0001c0011 a0001c0026	a0001c0001t0001 a0001c0001t0018 a0001c0011t0013 others(1): Show a0001c0001t0001 a0001c0001t0018 a0001c0011t0013 a0001c0026t0056	a0001c0001t0001g0145 a0001c0001t0018g0156 a0001c0011t0013g0069 others(1): Show a0001c0001t0001g0145 a0001c0001t0018g0156 a0001c0011t0013g0069 a0001c0026t0056g0031	4	234	0.0171	19	c.736 others(36): Show c.736+2783_736+2801dupTTTTTTTTTTTTTTTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7672865	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0032 a0001c0010t0003g0032	1	234	0.0043	19	c.993 others(36): Show c.993+1271_993+1289dupAAAAAAAAAAAAAAAAAAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79318854	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	154	0.0065	19	c.-17 others(40): Show c.-174-11049_-174-11031dupTTTTTTTTTTTTTTTTTTT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	2/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79320018	T T	TTCTGGGC others(12): Show TTCTGGGCTGCTGGTCTATG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0111 a0001c0001t0027g0111	1	154	0.0065	19	c.-17 others(40): Show c.-174-12213_-174-12195dupCATAGACCAGCAGCCCAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	2/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79487913	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	154	0.0065	19	c.-31 others(38): Show c.-319-5316_-319-5315insTTTTTTTTTTTTTTTTTTT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611130	T T	TCCCTCTC others(12): Show TCCCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	154	0.0065	19	c.-62 others(28): Show c.-625_-624insGAGAGAGAGAGAGAGAGGG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		80		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611130	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02135.hp2 NA18952.hp2 HG02129.hp1 HG02135.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0017 a0001c0002t0001 a0001c0001t0003 a0001c0001t0017 a0001c0002t0001	a0001c0001t0003g0043 a0001c0001t0017g0003 a0001c0002t0001g0079 a0001c0001t0003g0043 a0001c0001t0017g0003 a0001c0002t0001g0079	3	154	0.0195	19	c.-62 others(28): Show c.-625_-624insGAGAGAGAGAGAGAGAGAG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		80		chr17	TogoVar
RBL1_chr20_36991349_37100997	37002336	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0295 a0001c0001t0010g0295	1	354	0.0028	19	c.303 others(38): Show c.3036+1347_3036+1365dupAAAAAAAAAAAAAAAAAAA	RBL1	ENSG00000080839.12	transcript	ENST00000373664.8	protein_coding	21/21			chr20	TogoVar
RBL1_chr20_36991349_37100997	37010260	G G	GAAAATAG others(12): Show GAAAATAGTGAATGTTTATT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	354	0.0028	19	c.272 others(38): Show c.2723-2720_2723-2702dupAATAAACATTCACTATTTT	RBL1	ENSG00000080839.12	transcript	ENST00000373664.8	protein_coding	19/21			chr20	TogoVar
RBM10_chrX_47140221_47191813	47144446	A A	ACCCACCC others(12): Show ACCCACCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	226	0.0044	19	c.-11 others(30): Show c.-1165_-1164insCCCACCCCCCCCCCCCCCC	RBM10	ENSG00000182872.16	transcript	ENST00000377604.8	protein_coding		774		chrX	TogoVar
RBM10_chrX_47140221_47191813	47144446	A A	ACCCCCCC others(12): Show ACCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	226	0.0044	19	c.-11 others(30): Show c.-1165_-1164insCCCCCCCCCCCCCCCCCCC	RBM10	ENSG00000182872.16	transcript	ENST00000377604.8	protein_coding		774		chrX	TogoVar
RBM20_chr10_110639336_110844468	110737177	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02723.hp2 others(5): Show HG02055.hp2 HG02109.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03209.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0002g0191 others(5): Show a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0002g0191 a0001c0001t0002g0203 a0001c0003t0001g0058 a0002c0002t0001g0208 a0002c0002t0003g0204 a0002c0002t0003g0205	8	268	0.0299	19	c.192 others(38): Show c.192-43622_192-43604dupAAAAAAAAAAAAAAAAAAA	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
RBM20_chr10_110639336_110844468	110752946	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03486.hp2 HG02965.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0058 a0001c0003t0002g0001 a0001c0003t0001g0058 a0001c0003t0002g0001	2	268	0.0075	19	c.192 others(38): Show c.192-27855_192-27854insATATATATATATATATATA	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	1/13			chr10	TogoVar
RBM20_chr10_110639336_110844468	110809218	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG01496.hp2 others(12): Show HG00544.hp2 HG00621.hp1 HG01496.hp2 HG01928.hp1 HG02040.hp1 NA18522.hp1 NA18957.hp1 NA18965.hp1 NA18983.hp2 NA19002.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19087.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0003t0002 a0002c0002t0003 a0002c0008t0006	a0001c0001t0001g0237 a0001c0001t0002g0059 a0001c0001t0002g0076 others(12): Show a0001c0001t0001g0237 a0001c0001t0002g0059 a0001c0001t0002g0076 a0001c0001t0002g0083 a0001c0001t0002g0129 a0001c0001t0002g0155 a0001c0001t0002g0169 a0001c0001t0002g0227 a0001c0001t0002g0240 a0001c0001t0012g0263 a0001c0003t0002g0028 a0001c0003t0002g0033 a0002c0002t0003g0147 a0002c0002t0003g0180 a0002c0008t0006g0255	15	268	0.0560	19	c.180 others(38): Show c.1801-1151_1801-1150insAAAAAAAAAAAAAAAAAAA	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
RBM23_chr14_22888204_22924149	22888670	C C	CATGGCAA others(12): Show CATGGCAAAACCCTGTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	362	0.0028	19	c.13 others(32): Show c.13059_*13060insAAAGACAGGGTTTTGCCAT	RBM23	ENSG00000100461.18	transcript	ENST00000359890.8	protein_coding		4533		chr14	TogoVar
RBM23_chr14_22888204_22924149	22888998	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01106.hp2 HG01943.hp2 others(7): Show HG00423.hp1 HG01106.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG02071.hp2 HG02683.hp2 HG03927.hp1 HG04115.hp2 NA19090.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0020 a0002c0002t0001 a0002c0002t0013 others(2): Show a0001c0001t0020 a0002c0002t0001 a0002c0002t0013 a0003c0003t0001 a0003c0003t0054	a0001c0001t0020g0031 a0002c0002t0001g0006 a0002c0002t0001g0184 others(7): Show a0001c0001t0020g0031 a0002c0002t0001g0006 a0002c0002t0001g0184 a0002c0002t0013g0111 a0003c0003t0001g0028 a0003c0003t0001g0086 a0003c0003t0001g0182 a0003c0003t0001g0187 a0003c0003t0001g0194 a0003c0003t0054g0180	10	362	0.0276	19	c.12 others(32): Show c.12731_*12732insTTTTTTTTTTTTTTTTTTT	RBM23	ENSG00000100461.18	transcript	ENST00000359890.8	protein_coding		4205		chr14	TogoVar
RBM23_chr14_22888204_22924149	22910151	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	362	0.0028	19	c.67- others(32): Show c.67-575_67-557dupTTTTTTTTTTTTTTTTTTT	RBM23	ENSG00000100461.18	transcript	ENST00000359890.8	protein_coding	2/13			chr14	TogoVar
RBM25_chr14_73053534_73128899	73069746	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18941.hp2 NA18950.hp1 others(3): Show HG02602.hp1 NA18941.hp2 NA18950.hp1 NA18973.hp2 NA18975.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 a0001c0002t0017	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0186 others(3): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0186 a0001c0001t0005g0147 a0001c0001t0029g0354 a0001c0002t0017g0251	6	388	0.0155	19	c.-15 others(36): Show c.-15-1866_-15-1848dupAAAAAAAAAAAAAAAAAAA	RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
RBM25_chr14_73053534_73128899	73104309	C C	CTCCTAGT others(12): Show CTCCTAGTAATTTTACTCTT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	388	0.0026	19	c.115 others(36): Show c.1154+833_1154+851dupCCTAGTAATTTTACTCTTT	RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
RBM26_chr13_79313868_79411255	79367406	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18948.hp2 NA18956.hp1 others(2): Show HG03239.hp2 NA18948.hp2 NA18956.hp1 NA18969.hp1 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0019 a0001c0002t0001 a0001c0002t0019	a0001c0002t0001g0174 a0001c0002t0001g0227 a0001c0002t0001g0240 others(2): Show a0001c0002t0001g0174 a0001c0002t0001g0227 a0001c0002t0001g0240 a0001c0002t0001g0254 a0001c0002t0019g0175	5	328	0.0152	19	c.896 others(34): Show c.896-553_896-535dupTTTTTTTTTTTTTTTTTTT	RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	6/21			chr13	TogoVar
RBM27_chr5_146198605_146294223	146211464	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01496.hp2 HG01943.hp2 others(1): Show HG01257.hp1 HG01496.hp2 HG01943.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 others(1): Show a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227	4	272	0.0147	19	c.60- others(34): Show c.60-7509_60-7491dupTTTTTTTTTTTTTTTTTTT	RBM27	ENSG00000091009.8	transcript	ENST00000265271.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr5	TogoVar
RBM33_chr7_155639661_155786480	155673940	G G	GTTGTTGT others(12): Show GTTGTTGTTTGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp2 HG01175.hp2 others(10): Show HG00621.hp1 HG00735.hp2 HG01175.hp2 HG01978.hp2 HG02300.hp2 HG02602.hp2 HG03710.hp1 HG04115.hp2 NA18940.hp2 NA18941.hp2 NA18999.hp1 NA19004.hp1 NA19066.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0004 a0002c0001t0013 others(6): Show a0002c0001t0001 a0002c0001t0004 a0002c0001t0013 a0002c0001t0017 a0002c0001t0058 a0002c0001t0059 a0002c0001t0060 a0002c0001t0066 a0002c0001t0121	a0002c0001t0001g0015 a0002c0001t0001g0025 a0002c0001t0001g0034 others(10): Show a0002c0001t0001g0015 a0002c0001t0001g0025 a0002c0001t0001g0034 a0002c0001t0001g0066 a0002c0001t0001g0075 a0002c0001t0004g0126 a0002c0001t0013g0060 a0002c0001t0017g0076 a0002c0001t0058g0046 a0002c0001t0059g0300 a0002c0001t0060g0288 a0002c0001t0066g0287 a0002c0001t0121g0069	13	306	0.0425	19	c.171 others(36): Show c.171+1027_171+1028insGTTGTTTGTTTTTTTTTTT	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM33_chr7_155639661_155786480	155716316	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG01175.hp1 others(30): Show HG00423.hp1 HG00621.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01934.hp1 HG02056.hp2 HG02132.hp2 HG02145.hp1 HG02257.hp1 HG02572.hp1 HG02602.hp2 HG02895.hp2 HG03516.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG04204.hp1 NA18941.hp2 NA18955.hp2 NA18960.hp1 NA18961.hp2 NA18966.hp1 NA18979.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19056.hp2 NA19060.hp2 NA19074.hp2 NA19079.hp2 NA19085.hp2 NA19091.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0006 a0001c0017 a0002c0001 others(2): Show a0001c0006 a0001c0017 a0002c0001 a0004c0010 a0006c0014	a0001c0006t0093 a0001c0017t0055 a0002c0001t0001 others(15): Show a0001c0006t0093 a0001c0017t0055 a0002c0001t0001 a0002c0001t0003 a0002c0001t0004 a0002c0001t0013 a0002c0001t0015 a0002c0001t0020 a0002c0001t0056 a0002c0001t0057 a0002c0001t0060 a0002c0001t0064 a0002c0001t0065 a0002c0001t0067 a0002c0001t0076 a0002c0001t0121 a0004c0010t0001 a0006c0014t0095	a0001c0006t0093g0166 a0001c0017t0055g0142 a0002c0001t0001g0009 others(30): Show a0001c0006t0093g0166 a0001c0017t0055g0142 a0002c0001t0001g0009 a0002c0001t0001g0015 a0002c0001t0001g0017 a0002c0001t0001g0022 a0002c0001t0001g0026 a0002c0001t0001g0034 a0002c0001t0001g0035 a0002c0001t0001g0056 a0002c0001t0001g0062 a0002c0001t0001g0066 a0002c0001t0003g0016 a0002c0001t0003g0018 a0002c0001t0003g0067 a0002c0001t0004g0003 a0002c0001t0013g0071 a0002c0001t0013g0073 a0002c0001t0015g0028 a0002c0001t0015g0045 a0002c0001t0015g0059 a0002c0001t0020g0030 a0002c0001t0056g0068 a0002c0001t0057g0013 a0002c0001t0060g0288 a0002c0001t0064g0070 a0002c0001t0065g0063 a0002c0001t0067g0057 a0002c0001t0076g0097 a0002c0001t0121g0069 a0004c0010t0001g0043 a0004c0010t0001g0044 a0006c0014t0095g0271	33	306	0.1078	19	c.120 others(38): Show c.1202-2053_1202-2052insTTTTTTTTTTTTTTTTTTT	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM38_chr20_57386396_57414333	57407022	A A	AGGAGCAG others(12): Show AGGAGCAGGTGTTGGCTGGG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0055 a0001c0001t0015g0055	1	400	0.0025	19	c.417 others(34): Show c.417-520_417-502dupGGAGCAGGTGTTGGCTGGG	RBM38	ENSG00000132819.17	transcript	ENST00000356208.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBM39_chr20_35696347_35747260	35713666	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0092	1	274	0.0037	19	c.109 others(36): Show c.1096+500_1096+518dupTTTTTTTTTTTTTTTTTTT	RBM39	ENSG00000131051.24	transcript	ENST00000253363.11	protein_coding	11/16			chr20	TogoVar
RBM42_chr19_35624036_35642685	35638908	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01256.hp1 HG02647.hp1 others(7): Show HG00323.hp1 HG01256.hp1 HG02647.hp1 HG02818.hp1 HG02896.hp2 HG03654.hp2 HG03927.hp1 NA18983.hp2 NA19074.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0059 a0001c0001t0002g0014 a0001c0001t0002g0060	10	428	0.0234	19	c.13 others(30): Show c.1354_*1355insAAAAAAAAAAAAAAAAAAA	RBM42	ENSG00000126254.12	transcript	ENST00000262633.9	protein_coding		1224		chr19	TogoVar
RBM47_chr4_40418280_40634864	40437090	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	278	0.0036	19	c.112 others(36): Show c.1124-444_1124-443insATATATTTTTTTTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar

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