JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RBFOX1_chr16_6014024_7718340	7460389	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	68	0.0147	30	c.28- others(47): Show c.28-57757_28-57756insATATATATATATATATATATATATATGT GT	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(23): Show ATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02630.hp1 HG02451.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0012 a0001c0001t0007 a0001c0001t0012	a0001c0001t0007g0039 a0001c0001t0012g0054 a0001c0001t0007g0039 a0001c0001t0012g0054	2	68	0.0294	30	c.28- others(47): Show c.28-57757_28-57756insATATATATATATATATATATATATGTGT GT	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(23): Show ATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0036 a0001c0001t0009g0036	1	68	0.0147	30	c.28- others(47): Show c.28-57757_28-57756insATATATATATATATATATATATGTGTGT GT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7504787	T T	TTATATAT others(23): Show TTATATATATATATTTATATATATATATTTA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0019 a0001c0001t0039g0019	1	68	0.0147	30	c.28- others(47): Show c.28-13347_28-13346insTTATATATATATATTTATATATATATAT AT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7656444	A A	AAGAGCAA others(23): Show AAGAGCAAGAACCCCTATCTTGTGTTCAGGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG02622.hp2 HG00280.hp1 HG00609.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0024 a0001c0001t0037 a0001c0001t0020 a0001c0001t0024 a0001c0001t0037	a0001c0001t0020g0002 a0001c0001t0024g0008 a0001c0001t0037g0029 a0001c0001t0020g0002 a0001c0001t0024g0008 a0001c0001t0037g0029	3	68	0.0441	30	c.890 others(47): Show c.890+2515_890+2544dupCTTGTGTTCAGGGAGAGCAAGAACCCCT AT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7677132	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03927.hp1 NA18522.hp1 HG01261.hp2 HG03927.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0014 a0001c0001t0016 a0001c0004t0001 a0001c0001t0014 a0001c0001t0016 a0001c0004t0001	a0001c0001t0014g0046 a0001c0001t0016g0011 a0001c0004t0001g0060 a0001c0001t0014g0046 a0001c0001t0016g0011 a0001c0004t0001g0060	3	68	0.0441	30	c.995 others(45): Show c.995+322_995+323insACACACACACACACACACACACACACACAC	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7460370	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	234	0.0043	30	c.88- others(47): Show c.88-57757_88-57756insATATATATATATATATATATATATATAT AT	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(23): Show ATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA18747.hp2 HG01192.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0012 a0001c0002t0002 a0001c0004t0012	a0001c0002t0002g0074 a0001c0004t0012g0195 a0001c0002t0002g0074 a0001c0004t0012g0195	2	234	0.0086	30	c.88- others(47): Show c.88-57757_88-57756insATATATATATATATATATATATATATGT GT	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(23): Show ATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02630.hp1 others(3): Show HG02257.hp1 HG02451.hp1 HG02630.hp1 HG03225.hp1 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0017 a0001c0002t0008 others(3): Show a0001c0001t0001 a0001c0001t0017 a0001c0002t0008 a0001c0003t0005 a0001c0003t0051 a0001c0006t0002	a0001c0001t0001g0026 a0001c0001t0017g0030 a0001c0002t0008g0025 others(3): Show a0001c0001t0001g0026 a0001c0001t0017g0030 a0001c0002t0008g0025 a0001c0003t0005g0010 a0001c0003t0051g0058 a0001c0006t0002g0005	6	234	0.0256	30	c.88- others(47): Show c.88-57757_88-57756insATATATATATATATATATATATATGTGT GT	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(23): Show ATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0017 a0001c0005t0003g0017	1	234	0.0043	30	c.88- others(47): Show c.88-57757_88-57756insATATATATATATATATATATATGTGTGT GT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7504787	T T	TTATATAT others(23): Show TTATATATATATATTTATATATATATATTTA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0056 a0001c0026t0056	a0001c0026t0056g0031 a0001c0026t0056g0031	1	234	0.0043	30	c.88- others(47): Show c.88-13347_88-13346insTTATATATATATATTTATATATATATAT AT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7656444	A A	AAGAGCAA others(23): Show AAGAGCAAGAACCCCTATCTTGTGTTCAGGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG02129.hp1 others(9): Show HG00280.hp1 HG00609.hp1 HG02129.hp1 HG02622.hp1 HG02723.hp2 NA18946.hp2 NA18953.hp2 NA18957.hp1 NA18959.hp1 NA18970.hp2 NA18999.hp2 NA19010.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0001c0030 others(1): Show a0001c0001 a0001c0004 a0001c0030 a0005c0015	a0001c0001t0001 a0001c0001t0006 a0001c0001t0049 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0049 a0001c0001t0053 a0001c0004t0012 a0001c0004t0015 a0001c0030t0002 a0005c0015t0001	a0001c0001t0001g0078 a0001c0001t0001g0144 a0001c0001t0001g0148 others(9): Show a0001c0001t0001g0078 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0006g0157 a0001c0001t0049g0113 a0001c0001t0053g0002 a0001c0004t0012g0102 a0001c0004t0015g0134 a0001c0030t0002g0232 a0005c0015t0001g0179	12	234	0.0513	30	c.950 others(47): Show c.950+2515_950+2544dupCTTGTGTTCAGGGAGAGCAAGAACCCCT AT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7677132	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18522.hp2 HG03927.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0033 a0001c0001 a0001c0033	a0001c0001t0029 a0001c0033t0002 a0001c0001t0029 a0001c0033t0002	a0001c0001t0029g0224 a0001c0033t0002g0067 a0001c0001t0029g0224 a0001c0033t0002g0067	2	234	0.0086	30	c.105 others(47): Show c.1058+322_1058+323insACACACACACACACACACACACACACAC AC	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79449622	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	154	0.0065	30	c.-17 others(51): Show c.-175+32831_-175+32832insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	2/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79491136	G G	GGGGAGGG others(23): Show GGGGAGGGGAAGGGAGGGGAGGGGAGGGGAA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0140 a0001c0002t0006g0140	1	154	0.0065	30	c.-31 others(49): Show c.-319-8539_-319-8538insTTCCCCTCCCCTCCCCTCCCTTCCCC TCCC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611130	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0151 a0001c0003t0004g0151	1	154	0.0065	30	c.-62 others(39): Show c.-625_-624insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		80		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611169	T T	TCTCTCTC others(23): Show TCTCTCTCTCTCGCTCTCGCTCTCGCTCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	154	0.0065	30	c.-66 others(39): Show c.-664_-663insCGAGAGCGAGAGCGAGAGCGAGAGAGAGAG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		119		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611183	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0140 a0001c0002t0006g0140	1	154	0.0065	30	c.-67 others(39): Show c.-678_-677insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		133		chr17	TogoVar
RBL1_chr20_36991349_37100997	37002336	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG04204.hp2 NA19057.hp1 others(1): Show HG03710.hp2 HG04204.hp2 NA19057.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0292 a0001c0001t0002g0269 a0001c0001t0002g0319 others(1): Show a0001c0001t0001g0292 a0001c0001t0002g0269 a0001c0001t0002g0319 a0001c0001t0002g0351	4	354	0.0113	30	c.303 others(49): Show c.3036+1365_3036+1366insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	RBL1	ENSG00000080839.12	transcript	ENST00000373664.8	protein_coding	21/21			chr20	TogoVar
RBL2_chr16_53429471_53496648	53457258	C C	CCTTTTTT others(23): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01192.hp1 HG01891.hp1 others(1): Show HG00280.hp1 HG01192.hp1 HG01891.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0003 a0002c0004t0003 a0001c0003t0003 a0002c0004t0003	a0001c0003t0003g0163 a0001c0003t0003g0180 a0002c0004t0003g0147 others(1): Show a0001c0003t0003g0163 a0001c0003t0003g0180 a0002c0004t0003g0147 a0002c0004t0003g0186	4	276	0.0145	30	c.118 others(49): Show c.1180-2193_1180-2192insCTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RBL2	ENSG00000103479.17	transcript	ENST00000262133.11	protein_coding	8/21			chr16	TogoVar
RBM11_chr21_14211157_14233372	14213002	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG02004.hp1 HG01168.hp1 HG02004.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0027 a0001c0005t0005g0027	2	458	0.0044	30	c.-31 others(41): Show c.-3185_-3184insATATATATATATATATATATATATATATAT	RBM11	ENSG00000185272.14	transcript	ENST00000400577.4	protein_coding		3154		chr21	TogoVar
RBM19_chr12_113817057_113971325	113879431	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0314 a0001c0001t0003g0314	1	356	0.0028	30	c.255 others(51): Show c.2559-20536_2559-20535insTATATATATATATATATATATATA TATATA	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	21/23			chr12	TogoVar
RBM23_chr14_22888204_22924149	22910151	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18952.hp1 NA18983.hp2 HG00438.hp2 NA18952.hp1 NA18983.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0115 a0002c0002t0001g0142 a0003c0003t0001g0116 a0002c0002t0001g0115 a0002c0002t0001g0142 a0003c0003t0001g0116	3	362	0.0083	30	c.67- others(43): Show c.67-557_67-556insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RBM23	ENSG00000100461.18	transcript	ENST00000359890.8	protein_coding	2/13			chr14	TogoVar
RBM24_chr6_17276361_17298871	17295021	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01168.hp1 HG01169.hp1 others(10): Show HG00738.hp2 HG01168.hp1 HG01169.hp1 HG02074.hp1 HG02717.hp1 HG02735.hp2 HG04204.hp1 NA18941.hp2 NA18943.hp1 NA18957.hp2 NA18967.hp1 NA19000.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0027 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0002g0006	13	442	0.0294	30	c.29 others(41): Show c.2902_*2903insTATATATATATATATATATATATATATATA	RBM24	ENSG00000112183.15	transcript	ENST00000379052.10	protein_coding		1151		chr6	TogoVar
RBM25_chr14_73053534_73128899	73114078	G G	GTCAATTA others(23): Show GTCAATTAAATTAGTCAATTTGACTAAAATT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03453.hp1 HG03540.hp1 HG02818.hp2 HG03453.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0015 a0001c0001t0039 a0001c0004t0015 a0001c0001t0015 a0001c0001t0039 a0001c0004t0015	a0001c0001t0015g0020 a0001c0001t0039g0018 a0001c0004t0015g0019 a0001c0001t0015g0020 a0001c0001t0039g0018 a0001c0004t0015g0019	3	388	0.0077	30	c.239 others(47): Show c.2392-208_2392-207insTCAATTAAATTAGTCAATTTGACTAAAA TT	RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	17/18			chr14	TogoVar
RBM33_chr7_155639661_155786480	155673940	G G	GTTGTTGT others(23): Show GTTGTTGTTTGTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA19079.hp2 HG01071.hp2 NA19079.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0015 a0002c0001t0033 a0002c0001t0015 a0002c0001t0033	a0002c0001t0015g0059 a0002c0001t0033g0021 a0002c0001t0015g0059 a0002c0001t0033g0021	2	306	0.0065	30	c.171 others(47): Show c.171+1027_171+1028insGTTGTTTGTTTTTTTTTTTTTTTTTTTT TT	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM38_chr20_57386396_57414333	57392012	G G	GCCCCCAC others(23): Show GCCCCCACCCCCACCCCCACCCCCACCCCCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	400	0.0025	30	c.237 others(45): Show c.237+200_237+229dupACCCCCACCCCCACCCCCACCCCCACCCCC	RBM38	ENSG00000132819.17	transcript	ENST00000356208.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBM47_chr4_40418280_40634864	40498052	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0008 a0002c0009t0008	a0002c0009t0008g0043 a0002c0009t0008g0043	1	278	0.0036	30	c.-15 others(51): Show c.-154-31354_-154-31353insTATATATATATATATATATATATA TATATA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	2/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40498054	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02809.hp1 NA18980.hp2 others(1): Show HG00609.hp2 HG02809.hp1 NA18980.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0005 a0001c0001 a0001c0006 a0002c0005	a0001c0001t0009 a0001c0001t0026 a0001c0006t0001 others(1): Show a0001c0001t0009 a0001c0001t0026 a0001c0006t0001 a0002c0005t0101	a0001c0001t0009g0247 a0001c0001t0026g0199 a0001c0006t0001g0029 others(1): Show a0001c0001t0009g0247 a0001c0001t0026g0199 a0001c0006t0001g0029 a0002c0005t0101g0156	4	278	0.0144	30	c.-15 others(51): Show c.-154-31356_-154-31355insTATATATATATATATATATATATA TATATA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	2/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40573807	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0044 a0002c0005t0005g0044	1	278	0.0036	30	c.-23 others(51): Show c.-239-29302_-239-29301insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBMS1_chr2_160267151_160498807	160311228	C C	CTATATAT others(23): Show CTATATATCTATATATCTATATATCTATATA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03942.hp1 HG03017.hp2 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0026 a0001c0002t0001 a0001c0002t0026	a0001c0002t0001g0186 a0001c0002t0026g0252 a0001c0002t0001g0186 a0001c0002t0026g0252	2	328	0.0061	30	c.402 others(47): Show c.402+1927_402+1928insTATATAGATATATAGATATATAGATATA TA	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	4/13			chr2	TogoVar
RBMS1_chr2_160267151_160498807	160311230	A A	ATATATCT others(23): Show ATATATCTATATATCTATATATCTATATATC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	328	0.0031	30	c.402 others(47): Show c.402+1925_402+1926insGATATATAGATATATAGATATATAGATA TA	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	4/13			chr2	TogoVar
RBMS1_chr2_160267151_160498807	160426297	A A	AGAAAAGA others(23): Show AGAAAAGAAAAGAAAGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	328	0.0031	30	c.76- others(47): Show c.76-58907_76-58906insCTTCCTTCCTTCCTTCTTTCTTTTCTTT TC	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS1_chr2_160267151_160498807	160471691	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19090.hp2 NA19007.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0022 a0001c0001t0006g0312 a0001c0001t0003g0022 a0001c0001t0006g0312	2	328	0.0061	30	c.75+ others(47): Show c.75+21597_75+21598insTATATATATATATATATATATATATATA TA	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS1_chr2_160267151_160498807	160471691	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG06807.hp2 HG03453.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0009 a0001c0001t0013g0010 a0001c0001t0013g0009 a0001c0001t0013g0010	2	328	0.0061	30	c.75+ others(47): Show c.75+21597_75+21598insTATATATATATATATATATATATATACA CA	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS1_chr2_160267151_160498807	160471691	G G	GTGTGTAT others(23): Show GTGTGTATGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01106.hp1 HG01175.hp1 others(7): Show HG01069.hp1 HG01106.hp1 HG01175.hp1 HG01255.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG02300.hp2 HG04115.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0003t0004	a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0004g0064 others(7): Show a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0089 a0001c0001t0014g0075 a0001c0003t0004g0079	10	328	0.0305	30	c.75+ others(47): Show c.75+21597_75+21598insTATATATATATATATATATATACATACA CA	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS1_chr2_160267151_160498807	160471691	G G	GTGTGTAT others(23): Show GTGTGTATGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0088 a0001c0001t0004g0088	1	328	0.0031	30	c.75+ others(47): Show c.75+21597_75+21598insTATATATATATATATATATACACATACA CA	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS1_chr2_160267151_160498807	160471716	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18943.hp2 HG00609.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0163 a0001c0001t0002g0164	2	328	0.0061	30	c.75+ others(47): Show c.75+21572_75+21573insTTATATATATATATATATATATATATAT AT	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS2_chr12_56516820_56601193	56546339	A A	ATACATTA others(23): Show ATACATTATAAATATAATGTACAATATATTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00597.hp1 others(86): Show HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00639.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp1 HG01243.hp1 HG01256.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01516.hp2 HG01891.hp2 HG01934.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18942.hp1 NA18946.hp1 NA18947.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18960.hp1 NA18960.hp2 NA18987.hp2 NA18990.hp2 NA19000.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19063.hp1 NA19066.hp1 NA19070.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0001t0064 a0001c0001t0066 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0074 a0001c0001t0080 a0001c0002t0023 a0001c0002t0034 a0001c0002t0067 a0001c0005t0009	a0001c0001t0001g0004 a0001c0001t0001g0101 a0001c0001t0001g0110 others(86): Show a0001c0001t0001g0004 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0190 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0135 a0001c0001t0002g0144 a0001c0001t0002g0165 a0001c0001t0002g0169 a0001c0001t0003g0131 a0001c0001t0003g0161 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0166 a0001c0001t0003g0174 a0001c0001t0003g0219 a0001c0001t0003g0222 a0001c0001t0003g0271 a0001c0001t0005g0229 a0001c0001t0006g0157 a0001c0001t0006g0180 a0001c0001t0007g0122 a0001c0001t0007g0162 a0001c0001t0008g0181 a0001c0001t0009g0090 a0001c0001t0009g0136 a0001c0001t0010g0225 a0001c0001t0010g0227 a0001c0001t0011g0159 a0001c0001t0012g0114 a0001c0001t0012g0156 a0001c0001t0014g0198 a0001c0001t0014g0264 a0001c0001t0015g0172 a0001c0001t0016g0193 a0001c0001t0017g0179 a0001c0001t0017g0230 a0001c0001t0018g0086 a0001c0001t0018g0187 a0001c0001t0018g0188 a0001c0001t0020g0111 a0001c0001t0020g0112 a0001c0001t0020g0113 a0001c0001t0021g0167 a0001c0001t0024g0148 a0001c0001t0024g0171 a0001c0001t0025g0080 a0001c0001t0025g0175 a0001c0001t0027g0028 a0001c0001t0032g0047 a0001c0001t0035g0098 a0001c0001t0036g0096 a0001c0001t0037g0095 a0001c0001t0039g0143 a0001c0001t0041g0184 a0001c0001t0042g0138 a0001c0001t0057g0089 a0001c0001t0058g0220 a0001c0001t0060g0059 a0001c0001t0064g0126 a0001c0001t0066g0182 a0001c0001t0068g0158 a0001c0001t0069g0221 a0001c0001t0070g0088 a0001c0001t0071g0192 a0001c0001t0074g0155 a0001c0001t0080g0097 a0001c0002t0023g0099 a0001c0002t0034g0100 a0001c0002t0067g0183 a0001c0005t0009g0134	89	280	0.3179	30	c.67- others(47): Show c.67-16067_67-16038dupATATAATGTACAATATATTGTACATTAT AA	RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
RBMS2_chr12_56516820_56601193	56597637	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0208 a0001c0002t0026g0208	1	280	0.0036	30	c.85 others(41): Show c.8504_*8505insACACACACACACACACACACACACACACAC	RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding		1445		chr12	TogoVar
RBMS3_chr3_29276071_30015386	29384432	T T	TAAGAAGA others(23): Show TAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0031 a0001c0001t0074g0031	1	116	0.0086	30	c.76- others(47): Show c.76-50309_76-50308insGAAGAAGAAGAAGAAGAAGAAGAAGAAG AA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29384435	T T	TAAGAAGA others(23): Show TAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0080 a0001c0001t0071g0080	1	116	0.0086	30	c.76- others(47): Show c.76-50305_76-50276dupGAAGAAGAAGAAGAAGAAGAAGAAGAAG AA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29384435	T T	TAATAATA others(23): Show TAATAATAATAATAATAATAATAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	1	116	0.0086	30	c.76- others(47): Show c.76-50306_76-50305insTAATAATAATAATAATAATAAGAAGAAG AA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29779706	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02698.hp1 HG02055.hp2 HG02257.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0040 a0001c0001t0068 a0001c0001t0008 a0001c0001t0040 a0001c0001t0068	a0001c0001t0008g0083 a0001c0001t0040g0102 a0001c0001t0068g0109 a0001c0001t0008g0083 a0001c0001t0040g0102 a0001c0001t0068g0109	3	116	0.0259	30	c.637 others(49): Show c.637+16736_637+16737insTATATATATATATATATATATATATA TATA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29930109	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0081 a0001c0002t0081	a0001c0002t0081g0017 a0001c0002t0081g0017	1	116	0.0086	30	c.940 others(47): Show c.940-5974_940-5973insCTTTCTTTCTTTTTTTTTTTTTTTTTTT TT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29930109	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG04228.hp1 NA18944.hp2 HG01261.hp2 HG04228.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0065 a0001c0001t0078 a0001c0002t0031 a0001c0001t0065 a0001c0001t0078 a0001c0002t0031	a0001c0001t0065g0052 a0001c0001t0078g0067 a0001c0002t0031g0039 a0001c0001t0065g0052 a0001c0001t0078g0067 a0001c0002t0031g0039	3	116	0.0259	30	c.940 others(47): Show c.940-5974_940-5973insCTTTCTTTTTTTTTTTTTTTTTTTTTTT TT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29962551	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0077 a0001c0001t0017g0077	1	116	0.0086	30	c.109 others(51): Show c.1098+18314_1098+18315insTATATATATATATATATATATATA TATATA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMXL3_chrX_115184410_115197868	115197847	T T	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCTCTCACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0001 a0001c0036t0001	a0001c0036t0001g0000 a0001c0036t0001g0000	1	314	0.0032	30	c.52 others(41): Show c.5202_*5203insCTCTCTCTCTCTCTCTCTCACACACACACA	RBMXL3	ENSG00000175718.10	transcript	ENST00000424776.5	protein_coding		4980		chrX	TogoVar
RBP2_chr3_139447884_139481516	139462558	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02572.hp2 HG02615.hp1 others(4): Show HG01109.hp2 HG02572.hp2 HG02615.hp1 HG02895.hp1 HG03130.hp1 HG03225.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0124 others(4): Show a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0138 a0001c0001t0001g0193	7	266	0.0263	30	c.74- others(43): Show c.74-298_74-269dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	RBP2	ENSG00000114113.6	transcript	ENST00000232217.6	protein_coding	1/3			chr3	TogoVar
RBPJL_chr20_45301840_45322824	45305805	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 NA19080.hp2 NA21309.hp1 HG01975.hp1 NA19080.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0002t0001g0001 a0001c0001t0001g0002 a0001c0002t0001g0001	3	446	0.0067	30	c.-11 others(41): Show c.-1118_-1117insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RBPJL	ENSG00000124232.11	transcript	ENST00000343694.8	protein_coding		1034		chr20	TogoVar

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