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
RBFOX1_chr16_6014024_7718340	7021881	C C	CTCTTTCT others(10): Show CTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0002 a0001c0001t0020g0002	1	68	0.0147	17	c.-15 others(36): Show c.-15-30145_-15-30129dupCTTTTCTTTCTTTCTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7023564	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02735.hp2 HG00280.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0024 a0001c0001t0002 a0001c0001t0024	a0001c0001t0002g0007 a0001c0001t0024g0008 a0001c0001t0002g0007 a0001c0001t0024g0008	2	68	0.0294	17	c.-15 others(36): Show c.-15-28479_-15-28463dupAAAAAAAAAAAAAAAAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7034829	T T	TTTTTTTT others(10): Show TTTTTTTTTTCTTTTTTC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	68	0.0147	17	c.-15 others(36): Show c.-15-17219_-15-17218insCTTTTTTCTTTTTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7034848	C C	CTTTTCTT others(10): Show CTTTTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01192.hp1 HG02622.hp1 others(3): Show HG00280.hp1 HG01192.hp1 HG02622.hp1 HG02622.hp2 HG02735.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0024 a0001c0001t0026 a0001c0001t0037	a0001c0001t0002g0007 a0001c0001t0003g0049 a0001c0001t0004g0033 others(3): Show a0001c0001t0002g0007 a0001c0001t0003g0049 a0001c0001t0004g0033 a0001c0001t0024g0008 a0001c0001t0026g0051 a0001c0001t0037g0029	6	68	0.0882	17	c.-15 others(36): Show c.-15-17205_-15-17204insCTTTTTTTTTTTTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7141404	G G	GCAGCTAG others(10): Show GCAGCTAGAAGACCTTAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0039 a0001c0001t0007g0039	1	68	0.0147	17	c.27+ others(34): Show c.27+89308_27+89324dupAGCTAGAAGACCTTATC	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7186994	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0064 a0001c0001t0040g0064	1	68	0.0147	17	c.27+ others(36): Show c.27+134904_27+134920dupAAAAAAAAAAAAAAAAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7610118	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp2 HG03098.hp1 others(4): Show HG02451.hp1 HG02622.hp2 HG03098.hp1 HG03139.hp2 HG03453.hp1 HG03490.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0023 a0001c0001t0036 a0001c0001t0037	a0001c0001t0002g0015 a0001c0001t0004g0040 a0001c0001t0008g0034 others(4): Show a0001c0001t0002g0015 a0001c0001t0004g0040 a0001c0001t0008g0034 a0001c0001t0012g0054 a0001c0001t0023g0047 a0001c0001t0036g0032 a0001c0001t0037g0029	7	68	0.1029	17	c.676 others(34): Show c.676+2785_676+2801dupTTTTTTTTTTTTTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7650003	G G	GAGGAGGG others(10): Show GAGGAGGGAAGGACAGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(42): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00609.hp1 HG00609.hp2 HG00741.hp2 HG01099.hp1 HG01099.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01261.hp1 HG01261.hp2 HG02148.hp1 HG02148.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03579.hp1 HG03831.hp1 HG03831.hp2 NA18994.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0005 a0001c0001 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0001t0037 a0001c0001t0042 a0001c0001t0043 a0002c0003t0034 a0003c0005t0003	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(42): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0044 a0001c0001t0003g0006 a0001c0001t0003g0010 a0001c0001t0003g0041 a0001c0001t0003g0050 a0001c0001t0004g0040 a0001c0001t0004g0057 a0001c0001t0005g0058 a0001c0001t0005g0066 a0001c0001t0006g0038 a0001c0001t0008g0034 a0001c0001t0009g0036 a0001c0001t0010g0037 a0001c0001t0015g0045 a0001c0001t0016g0011 a0001c0001t0017g0014 a0001c0001t0018g0052 a0001c0001t0020g0002 a0001c0001t0024g0008 a0001c0001t0025g0048 a0001c0001t0027g0042 a0001c0001t0029g0001 a0001c0001t0030g0024 a0001c0001t0031g0056 a0001c0001t0032g0068 a0001c0001t0035g0065 a0001c0001t0037g0029 a0001c0001t0042g0022 a0001c0001t0043g0003 a0002c0003t0034g0061 a0003c0005t0003g0043	45	68	0.6618	17	c.758 others(34): Show c.758-3802_758-3801insGACAGGAAGGAGGGAAG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7650027	A A	AGAGGGAG others(10): Show AGAGGGAGGGAAGGACAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03195.hp1 HG03471.hp1 others(1): Show HG02559.hp1 HG03195.hp1 HG03471.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0025 a0001c0001t0030 others(1): Show a0001c0001t0003 a0001c0001t0025 a0001c0001t0030 a0001c0001t0042	a0001c0001t0003g0006 a0001c0001t0025g0048 a0001c0001t0030g0024 others(1): Show a0001c0001t0003g0006 a0001c0001t0025g0048 a0001c0001t0030g0024 a0001c0001t0042g0022	4	68	0.0588	17	c.758 others(34): Show c.758-3775_758-3759dupGACAGGAGGGAGGGAAG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7672865	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03471.hp1 HG03579.hp2 HG02735.hp2 HG03471.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0020 a0001c0001t0002g0007 a0001c0001t0003g0006 a0001c0001t0001g0020 a0001c0001t0002g0007 a0001c0001t0003g0006	3	68	0.0441	17	c.931 others(34): Show c.931-3902_931-3886dupAAAAAAAAAAAAAAAAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7594195	A A	AAATTTGG others(10): Show AAATTTGGAGGTGATTAT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	234	0.0043	17	c.529 others(34): Show c.529-1352_529-1336dupATTTGGAGGTGATTATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7610118	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02258.hp1 HG02280.hp1 others(11): Show HG01169.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02622.hp1 HG02818.hp2 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03453.hp2 HG03490.hp2 HG03942.hp2 NA18957.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0001c0018	a0001c0001t0001 a0001c0001t0053 a0001c0002t0002 others(10): Show a0001c0001t0001 a0001c0001t0053 a0001c0002t0002 a0001c0002t0035 a0001c0003t0004 a0001c0003t0005 a0001c0003t0051 a0001c0007t0001 a0001c0007t0024 a0001c0008t0009 a0001c0009t0048 a0001c0012t0005 a0001c0018t0034	a0001c0001t0001g0026 a0001c0001t0001g0099 a0001c0001t0053g0002 others(11): Show a0001c0001t0001g0026 a0001c0001t0001g0099 a0001c0001t0053g0002 a0001c0002t0002g0197 a0001c0002t0035g0234 a0001c0003t0004g0217 a0001c0003t0005g0037 a0001c0003t0051g0058 a0001c0007t0001g0060 a0001c0007t0024g0084 a0001c0008t0009g0226 a0001c0009t0048g0023 a0001c0012t0005g0177 a0001c0018t0034g0077	14	234	0.0598	17	c.736 others(34): Show c.736+2785_736+2801dupTTTTTTTTTTTTTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7650003	G G	GAGGAGGG others(10): Show GAGGAGGGAAGGACAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(175): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03579.hp2 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(22): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0019 a0001c0020 a0001c0023 a0001c0024 a0001c0025 a0001c0027 a0001c0030 a0002c0034 a0003c0021 a0004c0035 a0005c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(57): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0001t0037 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0047 a0001c0001t0049 a0001c0001t0053 a0001c0002t0002 a0001c0002t0008 a0001c0002t0019 a0001c0002t0035 a0001c0002t0036 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0050 a0001c0003t0051 a0001c0003t0055 a0001c0004t0007 a0001c0004t0011 a0001c0004t0012 a0001c0004t0014 a0001c0004t0015 a0001c0004t0039 a0001c0004t0045 a0001c0005t0003 a0001c0006t0002 a0001c0007t0001 a0001c0007t0024 a0001c0008t0009 a0001c0009t0001 a0001c0009t0011 a0001c0010t0003 a0001c0011t0013 a0001c0012t0005 a0001c0013t0021 a0001c0014t0002 a0001c0019t0023 a0001c0020t0001 a0001c0023t0022 a0001c0024t0014 a0001c0025t0019 a0001c0027t0020 a0001c0030t0002 a0002c0034t0002 a0003c0021t0014 a0004c0035t0002 a0005c0015t0001	a0001c0001t0001g0016 a0001c0001t0001g0042 a0001c0001t0001g0044 others(175): Show a0001c0001t0001g0016 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0127 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0004g0008 a0001c0001t0006g0114 a0001c0001t0006g0116 a0001c0001t0006g0125 a0001c0001t0006g0131 a0001c0001t0006g0155 a0001c0001t0006g0157 a0001c0001t0006g0168 a0001c0001t0006g0201 a0001c0001t0010g0039 a0001c0001t0010g0141 a0001c0001t0010g0170 a0001c0001t0016g0176 a0001c0001t0017g0063 a0001c0001t0018g0156 a0001c0001t0025g0139 a0001c0001t0026g0019 a0001c0001t0027g0221 a0001c0001t0030g0135 a0001c0001t0031g0068 a0001c0001t0037g0048 a0001c0001t0040g0185 a0001c0001t0041g0164 a0001c0001t0043g0213 a0001c0001t0047g0059 a0001c0001t0049g0113 a0001c0001t0053g0002 a0001c0002t0002g0013 a0001c0002t0002g0018 a0001c0002t0002g0041 a0001c0002t0002g0054 a0001c0002t0002g0070 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0081 a0001c0002t0002g0087 a0001c0002t0002g0120 a0001c0002t0002g0130 a0001c0002t0002g0163 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0175 a0001c0002t0002g0191 a0001c0002t0002g0197 a0001c0002t0002g0220 a0001c0002t0008g0003 a0001c0002t0008g0049 a0001c0002t0008g0092 a0001c0002t0019g0126 a0001c0002t0035g0234 a0001c0002t0036g0091 a0001c0003t0002g0149 a0001c0003t0004g0046 a0001c0003t0004g0047 a0001c0003t0004g0140 a0001c0003t0004g0142 a0001c0003t0004g0187 a0001c0003t0004g0217 a0001c0003t0005g0055 a0001c0003t0005g0057 a0001c0003t0005g0064 a0001c0003t0005g0118 a0001c0003t0050g0009 a0001c0003t0051g0058 a0001c0003t0055g0020 a0001c0004t0007g0115 a0001c0004t0007g0205 a0001c0004t0007g0230 a0001c0004t0011g0108 a0001c0004t0011g0203 a0001c0004t0012g0102 a0001c0004t0012g0154 a0001c0004t0012g0195 a0001c0004t0014g0053 a0001c0004t0015g0134 a0001c0004t0015g0147 a0001c0004t0015g0192 a0001c0004t0039g0167 a0001c0004t0045g0138 a0001c0005t0003g0011 a0001c0005t0003g0017 a0001c0005t0003g0056 a0001c0005t0003g0222 a0001c0006t0002g0005 a0001c0006t0002g0012 a0001c0006t0002g0015 a0001c0006t0002g0033 a0001c0006t0002g0052 a0001c0006t0002g0218 a0001c0006t0002g0219 a0001c0007t0001g0060 a0001c0007t0001g0150 a0001c0007t0001g0186 a0001c0007t0001g0208 a0001c0007t0024g0084 a0001c0008t0009g0211 a0001c0008t0009g0223 a0001c0008t0009g0226 a0001c0009t0001g0129 a0001c0009t0001g0132 a0001c0009t0001g0146 a0001c0009t0011g0198 a0001c0010t0003g0032 a0001c0010t0003g0036 a0001c0011t0013g0028 a0001c0011t0013g0085 a0001c0012t0005g0040 a0001c0012t0005g0173 a0001c0012t0005g0177 a0001c0013t0021g0121 a0001c0013t0021g0124 a0001c0014t0002g0061 a0001c0019t0023g0210 a0001c0020t0001g0184 a0001c0023t0022g0231 a0001c0024t0014g0043 a0001c0025t0019g0123 a0001c0027t0020g0038 a0001c0030t0002g0232 a0002c0034t0002g0075 a0003c0021t0014g0202 a0004c0035t0002g0090 a0005c0015t0001g0179	178	234	0.7607	17	c.818 others(34): Show c.818-3802_818-3801insGACAGGAAGGAGGGAAG	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7650027	A A	AGAGGGAG others(10): Show AGAGGGAGGGAAGGACAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02717.hp1 HG03195.hp2 others(2): Show HG02559.hp1 HG02717.hp1 HG03195.hp2 HG03471.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0010 others(2): Show a0001c0002 a0001c0003 a0001c0010 a0001c0013 a0001c0025	a0001c0002t0002 a0001c0003t0005 a0001c0010t0003 others(2): Show a0001c0002t0002 a0001c0003t0005 a0001c0010t0003 a0001c0013t0021 a0001c0025t0019	a0001c0002t0002g0220 a0001c0003t0005g0064 a0001c0010t0003g0036 others(2): Show a0001c0002t0002g0220 a0001c0003t0005g0064 a0001c0010t0003g0036 a0001c0013t0021g0124 a0001c0025t0019g0123	5	234	0.0214	17	c.818 others(34): Show c.818-3775_818-3759dupGACAGGAGGGAGGGAAG	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7672865	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02735.hp1 HG03471.hp1 others(1): Show HG02647.hp2 HG02735.hp1 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0002 a0001c0005t0003 a0001c0001t0001 a0001c0002t0002 a0001c0005t0003	a0001c0001t0001g0016 a0001c0002t0002g0034 a0001c0002t0002g0220 others(1): Show a0001c0001t0001g0016 a0001c0002t0002g0034 a0001c0002t0002g0220 a0001c0005t0003g0222	4	234	0.0171	17	c.993 others(34): Show c.993+1273_993+1289dupAAAAAAAAAAAAAAAAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79190428	A A	AAACAAAA others(10): Show AAACAAAAAAACTACAAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03098.hp1 NA21309.hp1 HG01884.hp2 HG03098.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0067 a0001c0001t0002g0101 a0001c0001t0004g0115 a0001c0001t0001g0067 a0001c0001t0002g0101 a0001c0001t0004g0115	3	154	0.0195	17	c.-34 others(36): Show c.-34+45337_-34+45338insGTTGTAGTTTTTTTGTT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79190429	A A	AAAAAAAA others(10): Show AAAAAAAAAAACTACAAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0136 a0001c0001t0028g0136	1	154	0.0065	17	c.-34 others(36): Show c.-34+45336_-34+45337insGTTGTAGTTTTTTTTTT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79190432	C C	CAAAAAAA others(10): Show CAAAAAAACTACAACAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02055.hp2 HG03130.hp1 others(1): Show HG01261.hp2 HG02055.hp2 HG03130.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008	a0001c0001t0002g0120 a0001c0001t0004g0090 a0001c0001t0006g0116 others(1): Show a0001c0001t0002g0120 a0001c0001t0004g0090 a0001c0001t0006g0116 a0001c0001t0008g0130	4	154	0.0260	17	c.-34 others(36): Show c.-34+45333_-34+45334insTTTGTTGTAGTTTTTTT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79190432	C C	CAAAAAAA others(10): Show CAAAAAAACTATAACAAA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02004.hp2 HG03492.hp1 others(1): Show HG01993.hp1 HG02004.hp2 HG03492.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0018 a0001c0001t0020 others(1): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0020 a0001c0002t0006	a0001c0001t0001g0069 a0001c0001t0018g0049 a0001c0001t0020g0030 others(1): Show a0001c0001t0001g0069 a0001c0001t0018g0049 a0001c0001t0020g0030 a0001c0002t0006g0102	4	154	0.0260	17	c.-34 others(36): Show c.-34+45333_-34+45334insTTTGTTATAGTTTTTTT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79318854	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02280.hp1 HG02280.hp2 others(3): Show HG00642.hp2 HG02280.hp1 HG02280.hp2 HG02615.hp1 HG03927.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0058 a0001c0001t0002g0131 a0001c0001t0004g0095 others(3): Show a0001c0001t0001g0058 a0001c0001t0002g0131 a0001c0001t0004g0095 a0001c0001t0004g0118 a0001c0002t0001g0037 a0001c0002t0003g0047	6	154	0.0390	17	c.-17 others(38): Show c.-174-11047_-174-11031dupTTTTTTTTTTTTTTTTT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	2/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79356348	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18942.hp2 HG01934.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0087 a0001c0001t0001g0057 a0001c0001t0001g0087	2	154	0.0130	17	c.-17 others(38): Show c.-174-48541_-174-48525dupAAAAAAAAAAAAAAAAA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	2/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79390058	G G	GCCGGGTC others(10): Show GCCGGGTCTCCGCAGCCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	154	0.0065	17	c.-17 others(38): Show c.-174-82251_-174-82235dupAGGCTGCGGAGACCCGG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	2/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611128	C C	CTCTCTCT others(10): Show CTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	154	0.0065	17	c.-62 others(26): Show c.-623_-622insAGAGAGAGAGAGAGAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		78		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611130	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02135.hp1 NA18983.hp2 HG00741.hp2 HG02135.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0005 a0001c0001t0003g0061 a0001c0002t0001g0080 a0001c0001t0001g0005 a0001c0001t0003g0061 a0001c0002t0001g0080	3	154	0.0195	17	c.-62 others(26): Show c.-625_-624insGAGAGAGAGAGAGAGAG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		80		chr17	TogoVar
RBIS_chr8_85209048_85225374	85212918	C C	CTGTCATC others(10): Show CTGTCATCCAGGCTGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(227): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18946.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp2 NA18988.hp2 NA18989.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA19003.hp1 NA19005.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp1 NA19059.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19075.hp1 NA19077.hp2 NA19082.hp1 NA19086.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0003c0003t0001g0026	230	368	0.6250	17	c.16 others(28): Show c.1625_*1641dupCTCCAGCCTGGATGACA	RBIS	ENSG00000176731.12	transcript	ENST00000619594.5	protein_coding		1129		chr8	TogoVar
RBIS_chr8_85209048_85225374	85212921	T T	TCATCCAG others(10): Show TCATCCAGGCTGGAGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01884.hp1 HG03209.hp2 others(1): Show HG01167.hp1 HG01884.hp1 HG03209.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	368	0.0109	17	c.16 others(28): Show c.1638_*1639insGCACTCCAGCCTGGATG	RBIS	ENSG00000176731.12	transcript	ENST00000619594.5	protein_coding		1126		chr8	TogoVar
RBL1_chr20_36991349_37100997	37002336	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0276	1	354	0.0028	17	c.303 others(36): Show c.3036+1349_3036+1365dupAAAAAAAAAAAAAAAAA	RBL1	ENSG00000080839.12	transcript	ENST00000373664.8	protein_coding	21/21			chr20	TogoVar
RBL1_chr20_36991349_37100997	37058115	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA19074.hp2 HG01123.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0351 a0001c0001t0002g0271 a0001c0001t0002g0351	2	354	0.0057	17	c.125 others(36): Show c.1251-1858_1251-1857insTTTTTTTTTTTTTTTTT	RBL1	ENSG00000080839.12	transcript	ENST00000373664.8	protein_coding	9/21			chr20	TogoVar
RBL2_chr16_53429471_53496648	53457258	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02135.hp2 HG03453.hp2 others(1): Show HG01071.hp2 HG02135.hp2 HG03453.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0153 a0001c0002t0002g0158 a0001c0002t0002g0219 others(1): Show a0001c0002t0002g0153 a0001c0002t0002g0158 a0001c0002t0002g0219 a0001c0002t0002g0233	4	276	0.0145	17	c.118 others(36): Show c.1180-2190_1180-2174dupTTTTTTTTTTTTTTTTT	RBL2	ENSG00000103479.17	transcript	ENST00000262133.11	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBM10_chrX_47140221_47191813	47144446	A A	ACCCCCCC others(10): Show ACCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 NA19000.hp1 HG02738.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0015 a0001c0001t0004g0216 a0001c0001t0001g0015 a0001c0001t0004g0216	2	226	0.0089	17	c.-11 others(28): Show c.-1165_-1164insCCCCCCCCCCCCCCCCC	RBM10	ENSG00000182872.16	transcript	ENST00000377604.8	protein_coding		774		chrX	TogoVar
RBM17_chr10_6084034_6122447	6098556	G G	GGTTTTTG others(10): Show GGTTTTTGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0107 a0001c0001t0006g0107	1	434	0.0023	17	c.123 others(34): Show c.123+1368_123+1369insGTTTTTGTTTTTTTTTT	RBM17	ENSG00000134453.16	transcript	ENST00000379888.9	protein_coding	2/11			chr10	TogoVar
RBM17_chr10_6084034_6122447	6107479	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	434	0.0023	17	c.506 others(34): Show c.506-1202_506-1186dupTTTTTTTTTTTTTTTTT	RBM17	ENSG00000134453.16	transcript	ENST00000379888.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
RBM19_chr12_113817057_113971325	113939507	T T	TGGGAGGC others(10): Show TGGGAGGCTGAGGCGGGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00609.hp1 others(52): Show HG00408.hp1 HG00597.hp1 HG00609.hp1 HG00673.hp1 HG00733.hp2 HG00741.hp2 HG01074.hp1 HG01192.hp1 HG01243.hp2 HG01884.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02165.hp1 HG02280.hp1 HG02602.hp1 HG02615.hp2 HG02698.hp2 HG02717.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03195.hp1 HG03453.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG04184.hp2 NA18952.hp2 NA18959.hp2 NA18969.hp1 NA18970.hp2 NA18979.hp2 NA18984.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1	a0003 a0004 a0007 others(2): Show a0003 a0004 a0007 a0010 a0017	a0003c0002 a0003c0015 a0004c0008 others(3): Show a0003c0002 a0003c0015 a0004c0008 a0007c0013 a0010c0035 a0017c0023	a0003c0002t0001 a0003c0002t0002 a0003c0002t0005 others(6): Show a0003c0002t0001 a0003c0002t0002 a0003c0002t0005 a0003c0002t0006 a0003c0015t0004 a0004c0008t0007 a0007c0013t0001 a0010c0035t0001 a0017c0023t0001	a0003c0002t0001g0001 a0003c0002t0001g0041 a0003c0002t0001g0051 others(51): Show a0003c0002t0001g0001 a0003c0002t0001g0041 a0003c0002t0001g0051 a0003c0002t0001g0052 a0003c0002t0001g0053 a0003c0002t0001g0058 a0003c0002t0001g0059 a0003c0002t0001g0061 a0003c0002t0001g0062 a0003c0002t0001g0063 a0003c0002t0001g0064 a0003c0002t0001g0065 a0003c0002t0001g0066 a0003c0002t0001g0067 a0003c0002t0001g0069 a0003c0002t0001g0070 a0003c0002t0001g0071 a0003c0002t0001g0072 a0003c0002t0001g0074 a0003c0002t0002g0046 a0003c0002t0002g0048 a0003c0002t0002g0056 a0003c0002t0002g0057 a0003c0002t0005g0042 a0003c0002t0005g0043 a0003c0002t0005g0045 a0003c0002t0005g0047 a0003c0002t0005g0050 a0003c0002t0005g0068 a0003c0002t0005g0073 a0003c0002t0005g0075 a0003c0002t0005g0076 a0003c0002t0005g0077 a0003c0002t0005g0078 a0003c0002t0005g0134 a0003c0002t0006g0049 a0003c0015t0004g0044 a0003c0015t0004g0054 a0003c0015t0004g0055 a0004c0008t0007g0227 a0004c0008t0007g0236 a0004c0008t0007g0237 a0004c0008t0007g0239 a0004c0008t0007g0240 a0004c0008t0007g0241 a0004c0008t0007g0242 a0004c0008t0007g0243 a0004c0008t0007g0246 a0007c0013t0001g0060 a0007c0013t0001g0210 a0007c0013t0001g0211 a0007c0013t0001g0212 a0010c0035t0001g0238 a0017c0023t0001g0248	55	356	0.1545	17	c.193 others(34): Show c.1938+436_1938+452dupGCCCGCCTCAGCCTCCC	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	15/23			chr12	TogoVar
RBM19_chr12_113817057_113971325	113939522	G G	GGCGGGAG others(10): Show GGCGGGAGGCTGAGGCGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01167.hp1 HG02451.hp1 others(9): Show HG01081.hp2 HG01167.hp1 HG02451.hp1 HG02572.hp1 HG02630.hp1 HG02647.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03209.hp2 HG03486.hp1 HG03516.hp2	a0004 a0010 a0004 a0010	a0004c0007 a0004c0033 a0010c0032 a0004c0007 a0004c0033 a0010c0032	a0004c0007t0001 a0004c0007t0006 a0004c0033t0001 others(1): Show a0004c0007t0001 a0004c0007t0006 a0004c0033t0001 a0010c0032t0006	a0004c0007t0001g0136 a0004c0007t0001g0228 a0004c0007t0001g0229 others(9): Show a0004c0007t0001g0136 a0004c0007t0001g0228 a0004c0007t0001g0229 a0004c0007t0001g0232 a0004c0007t0001g0233 a0004c0007t0001g0234 a0004c0007t0001g0244 a0004c0007t0001g0245 a0004c0007t0001g0301 a0004c0007t0006g0226 a0004c0033t0001g0235 a0010c0032t0006g0231	12	356	0.0337	17	c.193 others(34): Show c.1938+437_1938+438insTCGCCTCAGCCTCCCGC	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	15/23			chr12	TogoVar
RBM19_chr12_113817057_113971325	113944093	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0052 a0003c0002t0001g0052	1	356	0.0028	17	c.162 others(36): Show c.1627-1676_1627-1660dupAAAAAAAAAAAAAAAAA	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	13/23			chr12	TogoVar
RBM19_chr12_113817057_113971325	113944117	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA19011.hp2 NA19088.hp1 HG00597.hp1 NA19011.hp2 NA19088.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0065 a0003c0002t0001g0066 a0003c0002t0001g0067 a0003c0002t0001g0065 a0003c0002t0001g0066 a0003c0002t0001g0067	3	356	0.0084	17	c.162 others(36): Show c.1627-1684_1627-1683insCAAAAAAAAAAAAAAAA	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	13/23			chr12	TogoVar
RBM20_chr10_110639336_110844468	110737177	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	268	0.0037	17	c.192 others(36): Show c.192-43620_192-43604dupAAAAAAAAAAAAAAAAA	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(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	268	0.0037	17	c.192 others(36): Show c.192-27855_192-27854insATATATATATATATATA	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	1/13			chr10	TogoVar
RBM20_chr10_110639336_110844468	110758014	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0002 a0002c0002t0019g0002	1	268	0.0037	17	c.192 others(36): Show c.192-22779_192-22763dupTTTTTTTTTTTTTTTTT	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
RBM20_chr10_110639336_110844468	110809218	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0189 a0002c0002t0001g0189	1	268	0.0037	17	c.180 others(36): Show c.1801-1151_1801-1150insAAAAAAAAAAAAAAAAA	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
RBM23_chr14_22888204_22924149	22888841	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0234 a0001c0001t0085g0234	1	362	0.0028	17	c.12 others(30): Show c.12888_*12889insTTTTTTTTTTTTTTTTT	RBM23	ENSG00000100461.18	transcript	ENST00000359890.8	protein_coding		4362		chr14	TogoVar
RBM23_chr14_22888204_22924149	22888998	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(23): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00544.hp1 HG00639.hp1 HG00738.hp2 HG01168.hp2 HG01243.hp2 HG01255.hp2 HG01496.hp1 HG01516.hp1 HG02080.hp1 HG02698.hp2 HG03654.hp1 HG03688.hp2 HG03831.hp2 NA18973.hp1 NA18978.hp1 NA18982.hp1 NA19005.hp2 NA19056.hp1 NA19056.hp2 NA19084.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0008	a0001c0001 a0001c0006 a0002c0002 others(4): Show a0001c0001 a0001c0006 a0002c0002 a0003c0003 a0003c0009 a0007c0014 a0008c0019	a0001c0001t0040 a0001c0006t0001 a0002c0002t0001 others(6): Show a0001c0001t0040 a0001c0006t0001 a0002c0002t0001 a0003c0003t0001 a0003c0003t0033 a0003c0003t0075 a0003c0009t0001 a0007c0014t0001 a0008c0019t0001	a0001c0001t0040g0304 a0001c0006t0001g0054 a0002c0002t0001g0005 others(20): Show a0001c0001t0040g0304 a0001c0006t0001g0054 a0002c0002t0001g0005 a0002c0002t0001g0025 a0002c0002t0001g0093 a0002c0002t0001g0098 a0002c0002t0001g0127 a0002c0002t0001g0144 a0002c0002t0001g0152 a0003c0003t0001g0001 a0003c0003t0001g0092 a0003c0003t0001g0097 a0003c0003t0001g0103 a0003c0003t0001g0126 a0003c0003t0001g0131 a0003c0003t0001g0174 a0003c0003t0001g0185 a0003c0003t0033g0013 a0003c0003t0075g0099 a0003c0009t0001g0053 a0003c0009t0001g0055 a0007c0014t0001g0100 a0008c0019t0001g0091	26	362	0.0718	17	c.12 others(30): Show c.12731_*12732insTTTTTTTTTTTTTTTTT	RBM23	ENSG00000100461.18	transcript	ENST00000359890.8	protein_coding		4205		chr14	TogoVar
RBM23_chr14_22888204_22924149	22910151	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01358.hp1 HG02080.hp1 others(7): Show HG00408.hp2 HG01358.hp1 HG02080.hp1 HG03831.hp2 HG04115.hp2 HG04184.hp2 NA18949.hp1 NA19012.hp2 NA19079.hp2 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0006 a0002c0002 a0003c0003 others(1): Show a0001c0006 a0002c0002 a0003c0003 a0004c0016	a0001c0006t0001 a0002c0002t0001 a0002c0002t0011 others(5): Show a0001c0006t0001 a0002c0002t0001 a0002c0002t0011 a0002c0002t0052 a0003c0003t0001 a0003c0003t0033 a0003c0003t0065 a0004c0016t0001	a0001c0006t0001g0161 a0002c0002t0001g0152 a0002c0002t0001g0154 others(6): Show a0001c0006t0001g0161 a0002c0002t0001g0152 a0002c0002t0001g0154 a0002c0002t0011g0122 a0002c0002t0052g0123 a0003c0003t0001g0028 a0003c0003t0033g0013 a0003c0003t0065g0102 a0004c0016t0001g0101	10	362	0.0276	17	c.67- others(30): Show c.67-573_67-557dupTTTTTTTTTTTTTTTTT	RBM23	ENSG00000100461.18	transcript	ENST00000359890.8	protein_coding	2/13			chr14	TogoVar
RBM25_chr14_73053534_73128899	73069746	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03491.hp1 HG03579.hp2 others(1): Show HG02080.hp2 HG03491.hp1 HG03579.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0356 others(1): Show a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0356 a0001c0001t0006g0044	4	388	0.0103	17	c.-15 others(34): Show c.-15-1864_-15-1848dupAAAAAAAAAAAAAAAAA	RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
RBM25_chr14_73053534_73128899	73117210	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0297 a0001c0001t0004g0297	1	388	0.0026	17	c.244 others(36): Show c.2440-2485_2440-2469dupTTTTTTTTTTTTTTTTT	RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
RBM26_chr13_79313868_79411255	79367406	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01243.hp2 HG01346.hp1 others(7): Show HG01106.hp2 HG01243.hp2 HG01346.hp1 HG02055.hp1 HG03491.hp1 HG03654.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0021 a0001c0002t0022 a0001c0002t0001 a0001c0002t0021 a0001c0002t0022	a0001c0002t0001g0010 a0001c0002t0001g0217 a0001c0002t0001g0221 others(6): Show a0001c0002t0001g0010 a0001c0002t0001g0217 a0001c0002t0001g0221 a0001c0002t0001g0225 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0021g0246 a0001c0002t0022g0261	10	328	0.0305	17	c.896 others(32): Show c.896-551_896-535dupTTTTTTTTTTTTTTTTT	RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	6/21			chr13	TogoVar
RBM26_chr13_79313868_79411255	79375081	T T	TATATATA others(10): Show TATATATATTTATATATC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0297 a0001c0002t0003g0297	1	328	0.0031	17	c.327 others(34): Show c.327+2297_327+2298insGATATATAAATATATAT	RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	3/21			chr13	TogoVar
RBM27_chr5_146198605_146294223	146290869	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0127 a0001c0001t0022g0127	1	272	0.0037	17	c.48 others(28): Show c.4839_*4840insTTTTTTTTTTTTTTTTT	RBM27	ENSG00000091009.8	transcript	ENST00000265271.7	protein_coding		1647		chr5	TogoVar
RBM33_chr7_155639661_155786480	155644661	G G	GGGCGCGG others(10): Show GGGCGCGGGCGCGCGGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0121 a0002c0001t0121	a0002c0001t0121g0069 a0002c0001t0121g0069	1	306	0.0033	17	c.-21 others(26): Show c.-215_-199dupGGCGCGGGCGCGCGGCC	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	1/18	198	INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM33_chr7_155639661_155786480	155673940	G G	GTTGTTGT others(10): Show GTTGTTGTTTGTTTGTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0108 a0002c0001t0002g0108	1	306	0.0033	17	c.171 others(34): Show c.171+1027_171+1028insGTTGTTTGTTTGTTTTT	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar

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