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 per page.

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
RALGAPA2_chr20_20384530_20717644	20458469	AATATATA others(24): Show AATATATAATATATATGTATTTTATATATATT	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0041 a0001c0004t0001g0041	1	122	0.0082	-31	c.549 others(52): Show c.5495+14329_5495+14359delAATATATATAAAATACATATATAT TATATAT	RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	37/39			chr20	TogoVar
RANBP9_chr6_13616498_13716835	13632118	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA18945.hp2 NA18970.hp2 others(1): Show HG01433.hp2 NA18945.hp2 NA18970.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0262 a0002c0005t0001g0343 a0002c0005t0001g0344 others(1): Show a0001c0001t0001g0262 a0002c0005t0001g0343 a0002c0005t0001g0344 a0002c0005t0001g0345	4	360	0.0111	-31	c.194 others(48): Show c.1947+221_1947+251delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	RANBP9	ENSG00000010017.13	transcript	ENST00000011619.6	protein_coding	12/13			chr6	TogoVar
RANGAP1_chr22_41239779_41291187	41242136	ATATATAC others(24): Show ATATATACATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG02258.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0018 a0001c0001t0017 a0001c0001t0018	a0001c0001t0017g0275 a0001c0001t0018g0299 a0001c0001t0017g0275 a0001c0001t0018g0299	2	354	0.0057	-31	c.44 others(42): Show c.4436_*4466delATATATATATATATATATATATATGTATATA	RANGAP1	ENSG00000100401.21	transcript	ENST00000356244.8	protein_coding		2642		chr22	TogoVar
RAP1GAP2_chr17_2791438_3042741	2949485	GTGCCCTG others(24): Show GTGCCCTGAGCATTAACTGAGTGCCTGCTGTA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0190 a0001c0001t0038g0190	1	218	0.0046	-31	c.166 others(48): Show c.166-8212_166-8182delATGCCCTGAGCATTAACTGAGTGCCTGC TGT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAPGEF4_chr2_172730845_173057893	172857881	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01981.hp1 HG02698.hp1 others(6): Show HG01169.hp2 HG01981.hp1 HG02698.hp1 HG02723.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp2 NA20905.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0006 a0006c0017 a0001c0001 a0001c0006 a0006c0017	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0006c0017t0001	a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0083 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0083 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0002g0035 a0001c0001t0002g0045 a0001c0006t0001g0011 a0006c0017t0001g0100	9	178	0.0506	-31	c.444 others(50): Show c.444+43483_444+43513delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	RAPGEF4	ENSG00000091428.18	transcript	ENST00000397081.8	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
RASA3_chr13_113972783_114137623	114028285	CCTAAAAC others(24): Show CCTAAAACAGTGTCATCTGGGAGCCAGGATCT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01993.hp1 HG01993.hp2 others(9): Show HG01433.hp2 HG01993.hp1 HG01993.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG03209.hp1 HG03225.hp2 HG03540.hp1 NA18954.hp2 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0003t0003 a0002c0004t0004 a0002c0004t0009	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0004g0066 others(9): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0004g0066 a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0030 a0002c0004t0004g0001 a0002c0004t0004g0029 a0002c0004t0009g0010	12	67	0.1791	-31	c.450 others(46): Show c.450-389_450-359delAGATCCTGGCTCCCAGATGACACTGTTTTA G	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	5/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114119800	CCTCCCTC others(24): Show CCTCCCTCTCTCCAGCCAGGCGTCGATCAAGT	C C	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	67	0.0149	-31	c.55+ others(48): Show c.55+12604_55+12634delACTTGATCGACGCCTGGCTGGAGAGAGG GAG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASAL2_chr1_178089104_178483850	178260364	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG02809.hp2 others(1): Show HG02055.hp1 HG02486.hp1 HG02809.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0003 a0001c0001t0007g0004 a0001c0001t0007g0168 others(1): Show a0001c0001t0007g0003 a0001c0001t0007g0004 a0001c0001t0007g0168 a0001c0001t0007g0169	4	180	0.0222	-31	c.203 others(50): Show c.203-23199_203-23169delTATATATATATATATATATATATATA TATAT	RASAL2	ENSG00000075391.18	transcript	ENST00000367649.8	protein_coding	1/17			chr1	TogoVar
RASAL3_chr19_15446624_15469544	15467839	TTCCTTCC others(24): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(31): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp2 HG01123.hp1 HG01167.hp1 HG01346.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG02015.hp2 HG02071.hp2 HG02280.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp2 HG02630.hp2 HG02647.hp2 HG02809.hp1 HG02896.hp1 HG03453.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03834.hp2 HG04199.hp2 NA18939.hp2 NA18997.hp2 NA19004.hp2 NA19063.hp2 NA20805.hp2	a0001 a0006 a0008 others(1): Show a0001 a0006 a0008 a0010	a0001c0003 a0006c0008 a0008c0010 others(1): Show a0001c0003 a0006c0008 a0008c0010 a0010c0011	a0001c0003t0001 a0001c0003t0003 a0006c0008t0008 others(2): Show a0001c0003t0001 a0001c0003t0003 a0006c0008t0008 a0008c0010t0003 a0010c0011t0001	a0001c0003t0001g0030 a0001c0003t0001g0079 a0001c0003t0003g0006 others(16): Show a0001c0003t0001g0030 a0001c0003t0001g0079 a0001c0003t0003g0006 a0001c0003t0003g0015 a0001c0003t0003g0027 a0001c0003t0003g0028 a0001c0003t0003g0054 a0001c0003t0003g0055 a0001c0003t0003g0056 a0001c0003t0003g0057 a0001c0003t0003g0058 a0001c0003t0003g0060 a0001c0003t0003g0061 a0001c0003t0003g0062 a0001c0003t0003g0064 a0001c0003t0003g0065 a0006c0008t0008g0037 a0008c0010t0003g0063 a0010c0011t0001g0113	34	384	0.0885	-31	c.-33 others(42): Show c.-3385_-3355delGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	RASAL3	ENSG00000105122.13	transcript	ENST00000343625.12	protein_coding		3296		chr19	TogoVar
RASSF8_chr12_25953682_26077869	26035410	TATATAAG others(24): Show TATATAAGTATATGAAATTATATAATTATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(166): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18968.hp1 NA18970.hp1 NA18975.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19058.hp2 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0002c0007 a0004c0010 a0005c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(28): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0038 a0001c0001t0045 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0002t0006 a0001c0005t0002 a0001c0005t0006 a0002c0007t0005 a0004c0010t0062 a0005c0009t0054	a0001c0001t0002g0011 a0001c0001t0002g0034 a0001c0001t0002g0038 others(157): Show a0001c0001t0002g0011 a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0076 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0214 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0329 a0001c0001t0004g0041 a0001c0001t0004g0134 a0001c0001t0004g0149 a0001c0001t0004g0246 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0284 a0001c0001t0005g0003 a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0100 a0001c0001t0005g0101 a0001c0001t0005g0104 a0001c0001t0005g0109 a0001c0001t0005g0113 a0001c0001t0005g0115 a0001c0001t0005g0116 a0001c0001t0005g0117 a0001c0001t0005g0120 a0001c0001t0005g0122 a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0128 a0001c0001t0005g0130 a0001c0001t0005g0131 a0001c0001t0005g0133 a0001c0001t0005g0136 a0001c0001t0005g0141 a0001c0001t0005g0150 a0001c0001t0005g0153 a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0005g0165 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0173 a0001c0001t0006g0014 a0001c0001t0006g0138 a0001c0001t0006g0139 a0001c0001t0006g0140 a0001c0001t0006g0147 a0001c0001t0006g0148 a0001c0001t0006g0167 a0001c0001t0006g0215 a0001c0001t0006g0216 a0001c0001t0006g0242 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0270 a0001c0001t0006g0272 a0001c0001t0006g0273 a0001c0001t0006g0274 a0001c0001t0006g0276 a0001c0001t0006g0277 a0001c0001t0006g0278 a0001c0001t0006g0279 a0001c0001t0006g0280 a0001c0001t0006g0281 a0001c0001t0006g0282 a0001c0001t0006g0283 a0001c0001t0006g0285 a0001c0001t0006g0286 a0001c0001t0006g0287 a0001c0001t0006g0288 a0001c0001t0007g0162 a0001c0001t0008g0005 a0001c0001t0008g0027 a0001c0001t0008g0028 a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0008g0032 a0001c0001t0008g0033 a0001c0001t0008g0179 a0001c0001t0008g0218 a0001c0001t0010g0013 a0001c0001t0010g0206 a0001c0001t0010g0248 a0001c0001t0010g0250 a0001c0001t0010g0251 a0001c0001t0011g0361 a0001c0001t0012g0019 a0001c0001t0012g0020 a0001c0001t0012g0021 a0001c0001t0012g0022 a0001c0001t0020g0154 a0001c0001t0021g0010 a0001c0001t0021g0142 a0001c0001t0022g0023 a0001c0001t0022g0024 a0001c0001t0023g0025 a0001c0001t0023g0031 a0001c0001t0027g0105 a0001c0001t0027g0161 a0001c0001t0029g0247 a0001c0001t0029g0249 a0001c0001t0030g0151 a0001c0001t0030g0152 a0001c0001t0031g0135 a0001c0001t0031g0146 a0001c0001t0032g0256 a0001c0001t0032g0258 a0001c0001t0034g0108 a0001c0001t0038g0319 a0001c0001t0045g0275 a0001c0001t0053g0271 a0001c0001t0055g0121 a0001c0001t0056g0145 a0001c0001t0057g0259 a0001c0002t0006g0269 a0001c0005t0002g0226 a0001c0005t0006g0236 a0001c0005t0006g0237 a0001c0005t0006g0238 a0002c0007t0005g0099 a0002c0007t0005g0157 a0002c0007t0005g0158 a0004c0010t0062g0257 a0005c0009t0054g0217	169	396	0.4268	-31	c.-10 others(52): Show c.-108-19795_-108-19765delAATATAAGTATATGAAATTATATA ATTATAT	RASSF8	ENSG00000123094.16	transcript	ENST00000689635.1	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
RAX2_chr19_3764089_3777228	3776820	AGTGGATG others(24): Show AGTGGATGGTGATTGGGTGGGTGAATGGATGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0028 a0001c0001t0026g0028	1	436	0.0023	-31	c.-49 others(42): Show c.-4957_-4927delCCATCCATTCACCCACCCAATCACCATCCAC	RAX2	ENSG00000173976.16	transcript	ENST00000555633.3	protein_coding		4593		chr19	TogoVar
RB1CC1_chr8_52617458_52719435	52698669	GGTTTTTT others(24): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00639.hp1 others(30): Show HG00099.hp1 HG00280.hp2 HG00639.hp1 HG01081.hp1 HG01167.hp1 HG01169.hp2 HG01255.hp2 HG01358.hp1 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02486.hp1 HG02602.hp2 HG02615.hp1 HG02717.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03704.hp2 HG03834.hp2 HG04115.hp1 HG06807.hp1 NA19030.hp2 NA19043.hp2 NA20905.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0002 a0002c0001t0001 a0002c0001t0002	a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0001g0154 others(30): Show a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0001g0154 a0002c0001t0001g0158 a0002c0001t0001g0159 a0002c0001t0001g0160 a0002c0001t0001g0161 a0002c0001t0001g0162 a0002c0001t0001g0164 a0002c0001t0001g0165 a0002c0001t0001g0166 a0002c0001t0001g0170 a0002c0001t0001g0171 a0002c0001t0001g0173 a0002c0001t0001g0174 a0002c0001t0001g0175 a0002c0001t0001g0176 a0002c0001t0001g0177 a0002c0001t0001g0179 a0002c0001t0001g0181 a0002c0001t0001g0182 a0002c0001t0001g0276 a0002c0001t0001g0277 a0002c0001t0001g0280 a0002c0001t0002g0151 a0002c0001t0002g0152 a0002c0001t0002g0153 a0002c0001t0002g0155 a0002c0001t0002g0156 a0002c0001t0002g0157 a0002c0001t0002g0230 a0002c0001t0002g0234 a0002c0001t0002g0260	33	306	0.1078	-31	c.-16 others(52): Show c.-166-11733_-166-11703delAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAC	RB1CC1	ENSG00000023287.13	transcript	ENST00000025008.10	protein_coding	1/23			chr8	TogoVar
RBBP5_chr1_205081142_205126978	205123139	CTGACACA others(24): Show CTGACACATCGATTGAAGAGAGTAAATGTGAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0134 a0001c0001t0005g0134	1	390	0.0026	-31	c.-12 others(42): Show c.-1297_-1267delTTCACATTTACTCTCTTCAATCGATGTGTCA	RBBP5	ENSG00000117222.14	transcript	ENST00000264515.11	protein_coding		1162		chr1	TogoVar
RBFOX1_chr16_6014024_7718340	6350444	GAAAAAAA others(24): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18994.hp1 HG00609.hp1 NA18994.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0020 a0002c0003t0034 a0001c0001t0020 a0002c0003t0034	a0001c0001t0020g0002 a0002c0003t0034g0061 a0001c0001t0020g0002 a0002c0003t0034g0061	2	68	0.0294	-31	c.-64 others(50): Show c.-64+33412_-64+33442delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6487689	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	68	0.0147	-31	c.-63 others(52): Show c.-63-166912_-63-166882delAAAAAAAAAAATATATATATATAT ATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6641748	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0047 a0001c0001t0023g0047	1	68	0.0147	-31	c.-63 others(50): Show c.-63-12853_-63-12823delAAAAAAAAAAAAAAAAAAAAAAAAAA AAATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7506770	CTTATCTG others(24): Show CTTATCTGCCAAAGGTACCATAATGAGGTATG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02738.hp1 HG00140.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0013 a0001c0001t0002g0016	2	68	0.0294	-31	c.28- others(48): Show c.28-11375_28-11345delTATCTGCCAAAGGTACCATAATGAGGTA TGT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7506770	CTTATCTG others(24): Show CTTATCTGCCAAAGGTACCATAATGAGGTATG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02056.hp1 HG02132.hp1 others(13): Show HG00140.hp1 HG02056.hp1 HG02132.hp1 HG02738.hp2 HG03017.hp2 HG03239.hp2 HG03491.hp2 HG04199.hp2 NA18945.hp2 NA18953.hp1 NA18953.hp2 NA18969.hp2 NA18983.hp2 NA19006.hp1 NA19009.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(3): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0001c0031	a0001c0001t0001 a0001c0001t0010 a0001c0001t0016 others(6): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0016 a0001c0004t0007 a0001c0004t0039 a0001c0006t0001 a0001c0007t0001 a0001c0012t0005 a0001c0031t0007	a0001c0001t0001g0083 a0001c0001t0001g0100 a0001c0001t0001g0107 others(13): Show a0001c0001t0001g0083 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0144 a0001c0001t0001g0160 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0010g0170 a0001c0001t0016g0176 a0001c0004t0007g0096 a0001c0004t0039g0167 a0001c0006t0001g0007 a0001c0007t0001g0186 a0001c0012t0005g0173 a0001c0031t0007g0133	16	234	0.0684	-31	c.88- others(48): Show c.88-11375_88-11345delTATCTGCCAAAGGTACCATAATGAGGTA TGT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBM10_chrX_47140221_47191813	47148585	TATGTATC others(24): Show TATGTATCCTTCTATGATACATATCATAGAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG00735.hp1 others(34): Show HG00140.hp1 HG00609.hp1 HG00735.hp1 HG01069.hp1 HG01934.hp1 HG02040.hp1 HG02055.hp1 HG02145.hp1 HG02486.hp1 HG02572.hp1 HG02698.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03654.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18939.hp1 NA18951.hp2 NA18971.hp1 NA19012.hp1 NA19085.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0013 others(32): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0073 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0192	37	226	0.1637	-31	c.17+ others(46): Show c.17+1436_17+1466delCTTCTATGATACATATCATAGAAAATGTAT C	RBM10	ENSG00000182872.16	transcript	ENST00000377604.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chrX	TogoVar
RBM23_chr14_22888204_22924149	22911866	ACGCCACT others(24): Show ACGCCACTGTACTCCAGCCTGGGCAGCAATGT	A A	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0136	1	362	0.0028	-31	c.-10 others(46): Show c.-10-494_-10-464delACATTGCTGCCCAGGCTGGAGTACAGTGGC G	RBM23	ENSG00000100461.18	transcript	ENST00000359890.8	protein_coding	1/13			chr14	TogoVar
RBM25_chr14_73053534_73128899	73103890	TCTGTCTG others(24): Show TCTGTCTGTCTGTCTGTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0378 a0001c0001t0001g0378	1	388	0.0026	-31	c.115 others(48): Show c.1154+413_1154+443delCTGTCTGTCTGTCTGTCTCTCTCTCTCT CTC	RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	10/18			chr14	TogoVar
RBM26_chr13_79313868_79411255	79373448	TATATAAA others(24): Show TATATAAATATATATAATATGTATAAATATAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0160 a0001c0002t0006g0160	1	328	0.0031	-31	c.328 others(48): Show c.328-1549_328-1519delGTATATTTATACATATTATATATATTTA TAT	RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	3/21			chr13	TogoVar
RBM38_chr20_57386396_57414333	57394312	AGCCTGGC others(24): Show AGCCTGGCTCCCAGGTGAATGGGTCCCCTGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(265): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0002c0002 a0003c0004 others(2): Show a0001c0001 a0002c0002 a0003c0004 a0005c0007 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0002c0002t0001 a0003c0004t0001 a0005c0007t0001 a0006c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(113): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0004g0136 a0001c0001t0004g0142 a0001c0001t0004g0154 a0001c0001t0005g0009 a0001c0001t0005g0130 a0001c0001t0005g0141 a0001c0001t0005g0157 a0001c0001t0006g0049 a0001c0001t0006g0102 a0001c0001t0006g0103 a0001c0001t0006g0153 a0001c0001t0006g0155 a0001c0001t0006g0156 a0001c0001t0008g0001 a0001c0001t0008g0005 a0001c0001t0008g0128 a0001c0001t0009g0001 a0001c0001t0009g0084 a0001c0001t0010g0024 a0001c0001t0010g0034 a0001c0001t0011g0035 a0001c0001t0011g0082 a0001c0001t0014g0001 a0001c0001t0015g0055 a0001c0001t0016g0001 a0001c0001t0020g0037 a0001c0001t0022g0001 a0001c0001t0023g0001 a0001c0001t0026g0001 a0001c0001t0028g0012 a0001c0001t0029g0149 a0002c0002t0001g0006 a0002c0002t0001g0017 a0002c0002t0001g0048 a0002c0002t0001g0081 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0003c0004t0001g0001 a0005c0007t0001g0097 a0006c0006t0001g0001	268	400	0.6700	-31	c.416 others(48): Show c.416+1004_416+1034delCCCTGGGGCCTGGCTCCCAGGTGAATGG GTC	RBM38	ENSG00000132819.17	transcript	ENST00000356208.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBM44_chr2_237793779_237847805	237804753	TTTACTCT others(24): Show TTTACTCTGTTGATAGTGTCTTTTGCTGTGCA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0071 a0001c0002t0002g0071	1	378	0.0027	-31	c.-19 others(48): Show c.-19+5894_-19+5924delTACTCTGTTGATAGTGTCTTTTGCTGTG CAT	RBM44	ENSG00000177483.12	transcript	ENST00000316997.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
RBM47_chr4_40418280_40634864	40592953	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03486.hp2 HG02486.hp2 HG03486.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0071 a0002c0007t0072 a0002c0007t0071 a0002c0007t0072	a0002c0007t0071g0075 a0002c0007t0072g0074 a0002c0007t0071g0075 a0002c0007t0072g0074	2	278	0.0072	-31	c.-24 others(52): Show c.-240+36412_-240+36442delAAAAATATATATATATATATATAT ATATATA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40592957	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp2 HG02451.hp1 HG02572.hp2	a0001 a0001	a0001c0004 a0001c0012 a0001c0004 a0001c0012	a0001c0004t0003 a0001c0012t0082 a0001c0004t0003 a0001c0012t0082	a0001c0004t0003g0031 a0001c0012t0082g0030 a0001c0004t0003g0031 a0001c0012t0082g0030	2	278	0.0072	-31	c.-24 others(52): Show c.-240+36408_-240+36438delAAAAAAAAATATATATATATATAT ATATATA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40592959	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01978.hp2 HG02523.hp1 others(11): Show HG00621.hp2 HG01978.hp2 HG02523.hp1 HG02602.hp2 HG02809.hp1 HG03688.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18983.hp2 NA19003.hp2 NA19079.hp1 NA19085.hp1 NA20129.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0006 others(4): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0002c0005 a0002c0026 a0004c0024	a0001c0001t0002 a0001c0001t0017 a0001c0001t0113 others(11): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0113 a0001c0003t0002 a0001c0003t0054 a0001c0006t0001 a0002c0002t0001 a0002c0002t0013 a0002c0002t0019 a0002c0002t0021 a0002c0002t0110 a0002c0005t0103 a0002c0026t0106 a0004c0024t0023	a0001c0001t0002g0069 a0001c0001t0017g0076 a0001c0001t0113g0251 others(11): Show a0001c0001t0002g0069 a0001c0001t0017g0076 a0001c0001t0113g0251 a0001c0003t0002g0050 a0001c0003t0054g0150 a0001c0006t0001g0029 a0002c0002t0001g0054 a0002c0002t0013g0059 a0002c0002t0019g0063 a0002c0002t0021g0048 a0002c0002t0110g0056 a0002c0005t0103g0060 a0002c0026t0106g0201 a0004c0024t0023g0061	14	278	0.0504	-31	c.-24 others(52): Show c.-240+36406_-240+36436delAAAAAAAAAAATATATATATATAT ATATATA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40592961	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01106.hp2 HG02080.hp2 others(2): Show HG01071.hp2 HG01106.hp2 HG02080.hp2 HG02148.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0013 a0001c0001 a0001c0003 a0001c0013	a0001c0001t0002 a0001c0001t0006 a0001c0001t0039 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0039 a0001c0003t0018 a0001c0013t0090	a0001c0001t0002g0057 a0001c0001t0006g0052 a0001c0001t0039g0051 others(2): Show a0001c0001t0002g0057 a0001c0001t0006g0052 a0001c0001t0039g0051 a0001c0003t0018g0058 a0001c0013t0090g0064	5	278	0.0180	-31	c.-24 others(52): Show c.-240+36404_-240+36434delAAAAAAAAAAAAATATATATATAT ATATATA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBMS1_chr2_160267151_160498807	160370828	TATGTTTT others(24): Show TATGTTTTTTAAGAAAGTAAAAGGTGCCTTTA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG01168.hp1 others(11): Show HG00323.hp1 HG00642.hp1 HG01168.hp1 HG01243.hp2 HG02109.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03942.hp2 NA18522.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0095 a0001c0001t0001g0097 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0002g0096 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120	14	328	0.0427	-31	c.76- others(46): Show c.76-3468_76-3438delTAAAGGCACCTTTTACTTTCTTAAAAAACA T	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS3_chr3_29276071_30015386	29820188	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00639.hp1 others(20): Show HG00099.hp1 HG00140.hp2 HG00639.hp1 HG00639.hp2 HG01071.hp2 HG01517.hp2 HG01934.hp1 HG02055.hp1 HG02559.hp2 HG02622.hp2 HG02698.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03453.hp2 HG03540.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA19009.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(16): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0001t0028 a0001c0001t0037 a0001c0001t0044 a0001c0001t0048 a0001c0001t0052 a0001c0001t0060 a0001c0001t0063 a0001c0001t0066 a0001c0002t0018 a0001c0002t0039 a0002c0005t0055	a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0058 others(20): Show a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0058 a0001c0001t0004g0100 a0001c0001t0007g0081 a0001c0001t0011g0035 a0001c0001t0011g0037 a0001c0001t0012g0004 a0001c0001t0012g0036 a0001c0001t0013g0022 a0001c0001t0015g0051 a0001c0001t0020g0110 a0001c0001t0028g0040 a0001c0001t0037g0103 a0001c0001t0044g0062 a0001c0001t0048g0085 a0001c0001t0052g0024 a0001c0001t0060g0014 a0001c0001t0063g0069 a0001c0001t0066g0098 a0001c0002t0018g0059 a0001c0002t0039g0091 a0002c0005t0055g0086	23	116	0.1983	-31	c.638 others(50): Show c.638-48646_638-48616delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBPMS_chr8_30379541_30577256	30511477	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18977.hp2 NA18949.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0103 a0001c0001t0002g0063 a0001c0001t0002g0103	2	304	0.0066	-31	c.397 others(48): Show c.397+7043_397+7073delAAAAAAAAATATATATATATATATATAT ATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30511479	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01496.hp1 HG03490.hp2 others(2): Show HG01123.hp2 HG01496.hp1 HG03490.hp2 HG04204.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0038 a0001c0001t0001g0177 a0001c0001t0001g0192 others(2): Show a0001c0001t0001g0038 a0001c0001t0001g0177 a0001c0001t0001g0192 a0001c0001t0002g0039 a0001c0001t0002g0125	5	304	0.0165	-31	c.397 others(48): Show c.397+7045_397+7075delAAAAAAATATATATATATATATATATAT ATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30511481	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00544.hp1 others(58): Show HG00280.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00673.hp2 HG00735.hp1 HG01099.hp1 HG01175.hp2 HG01243.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02080.hp2 HG02165.hp2 HG02273.hp1 HG02738.hp2 HG03195.hp2 HG03471.hp1 HG03540.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG04184.hp2 NA18747.hp1 NA18944.hp2 NA18947.hp2 NA18950.hp1 NA18955.hp2 NA18957.hp2 NA18961.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18979.hp1 NA18986.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp1 NA19058.hp2 NA19063.hp1 NA19070.hp2 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA19091.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020	a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0032 others(58): Show a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0206 a0001c0001t0001g0215 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0275 a0001c0001t0001g0290 a0001c0001t0002g0068 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0110 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0005g0093 a0001c0001t0010g0270 a0001c0001t0011g0088 a0001c0001t0014g0132 a0001c0001t0015g0131 a0001c0001t0020g0156	61	304	0.2007	-31	c.397 others(48): Show c.397+7047_397+7077delAAAAATATATATATATATATATATATAT ATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBSN_chr3_15065073_15104148	15078776	ATACATAT others(24): Show ATACATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02922.hp2 HG03195.hp1 HG02615.hp2 HG02922.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0050 a0001c0001t0003g0056 a0001c0001t0003g0042 a0001c0001t0003g0050 a0001c0001t0003g0056	3	360	0.0083	-31	c.912 others(46): Show c.912-646_912-616delATATATATATATATATATATATATATATGT A	RBSN	ENSG00000131381.12	transcript	ENST00000253699.7	protein_coding	10/13			chr3	TogoVar
RCC1_chr1_28501043_28543989	28533840	CTTTTCTT others(24): Show CTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19005.hp2 HG03471.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0196 a0001c0001t0001g0075 a0001c0001t0001g0196	2	294	0.0068	-31	c.442 others(48): Show c.442-1205_442-1175delCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RCOR1_chr14_102587649_102735561	102653948	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02818.hp2 HG02965.hp1 others(3): Show HG02647.hp1 HG02818.hp2 HG02965.hp1 HG02970.hp1 HG03225.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0013 a0001c0003t0005 a0001c0001t0005 a0001c0001t0013 a0001c0003t0005	a0001c0001t0005g0116 a0001c0001t0005g0118 a0001c0001t0005g0120 others(3): Show a0001c0001t0005g0116 a0001c0001t0005g0118 a0001c0001t0005g0120 a0001c0001t0013g0123 a0001c0001t0013g0292 a0001c0003t0005g0117	6	292	0.0206	-31	c.362 others(50): Show c.362-27944_362-27914delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
REEP1_chr2_86208993_86342626	86298562	CATGCCTG others(24): Show CATGCCTGCAGTCGGACCCAGGTCCAGCCCTG	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	320	0.0031	-31	c.33- others(48): Show c.33-16351_33-16321delCAGGGCTGGACCTGGGTCCGACTGCAGG CAT	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding	1/8			chr2	TogoVar
RELT_chr11_73371399_73402474	73398204	TAACGGCC others(24): Show TAACGGCCTCAGAGAGAGGCTGAAGAACAAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0033 a0001c0001t0006g0033	1	340	0.0029	-31	c.27 others(42): Show c.2714_*2744delAACGGCCTCAGAGAGAGGCTGAAGAACAAGA	RELT	ENSG00000054967.13	transcript	ENST00000064780.7	protein_coding		731		chr11	TogoVar
RERE_chr1_8347404_8822640	8501019	ACCCCGTC others(24): Show ACCCCGTCCGGGAGGGGGGGGGGGGGTCAGCC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01175.hp2 HG01884.hp1 others(9): Show HG01167.hp1 HG01175.hp2 HG01884.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG03225.hp1 HG03471.hp2 NA18906.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0009c0021	a0001c0001t0003 a0001c0002t0005 a0001c0002t0028 others(3): Show a0001c0001t0003 a0001c0002t0005 a0001c0002t0028 a0001c0004t0010 a0001c0004t0022 a0009c0021t0003	a0001c0001t0003g0122 a0001c0002t0005g0128 a0001c0002t0005g0129 others(9): Show a0001c0001t0003g0122 a0001c0002t0005g0128 a0001c0002t0005g0129 a0001c0002t0005g0130 a0001c0002t0005g0131 a0001c0002t0005g0132 a0001c0002t0005g0134 a0001c0002t0005g0136 a0001c0002t0028g0133 a0001c0004t0010g0120 a0001c0004t0022g0121 a0009c0021t0003g0135	12	204	0.0588	-31	c.880 others(48): Show c.880-3521_880-3491delGGCTGACCCCCCCCCCCCCTCCCGGACG GGG	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
REV3L_chr6_111294033_111488218	111303671	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTAACAGACTATGACT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01175.hp2 HG00738.hp2 HG01175.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0011 a0002c0002 a0008c0011	a0002c0002t0001 a0008c0011t0001 a0002c0002t0001 a0008c0011t0001	a0002c0002t0001g0198 a0008c0011t0001g0207 a0002c0002t0001g0198 a0008c0011t0001g0207	2	288	0.0069	-31	c.925 others(50): Show c.9253-3546_9253-3516delAGTCATAGTCTGTTAAAAAAAAAAAA AAAAA	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	31/31			chr6	TogoVar
RFX3_chr9_3213297_3531001	3252402	ATTGGAGA others(24): Show ATTGGAGAGTGATGAGGGCAGGCATTTTAAGT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0165 a0001c0001t0052g0165	1	196	0.0051	-31	c.181 others(50): Show c.1815-4248_1815-4218delACTTAAAATGCCTGCCCTCATCACTC TCCAA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	14/16			chr9	TogoVar
RGPD2_chr2_87750960_87830796	87824786	GAGGCCGA others(24): Show GAGGCCGAGGCCGCCGCCGCCGCCGCCCGGCC	G G	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0038 a0003c0009t0002g0038	1	176	0.0057	-31	c.72+ others(44): Show c.72+841_72+871delGGCCGGGCGGCGGCGGCGGCGGCCTCGGCCT	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGPD3_chr2_106398406_106473413	106466987	GGCTGCCG others(24): Show GGCTGCCGCCGCCTGGCCAGGTCGAGGCCGCC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02056.hp2 HG02135.hp1 others(6): Show HG00140.hp1 HG02056.hp2 HG02135.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02895.hp2 NA19043.hp2 NA21309.hp2	a0001 a0007 a0014 others(1): Show a0001 a0007 a0014 a0036	a0001c0022 a0007c0008 a0014c0017 others(1): Show a0001c0022 a0007c0008 a0014c0017 a0036c0057	a0001c0022t0030 a0001c0022t0065 a0007c0008t0012 others(2): Show a0001c0022t0030 a0001c0022t0065 a0007c0008t0012 a0014c0017t0010 a0036c0057t0054	a0001c0022t0030g0166 a0001c0022t0030g0167 a0001c0022t0065g0261 others(6): Show a0001c0022t0030g0166 a0001c0022t0030g0167 a0001c0022t0065g0261 a0007c0008t0012g0360 a0014c0017t0010g0148 a0014c0017t0010g0150 a0014c0017t0010g0151 a0014c0017t0010g0152 a0036c0057t0054g0260	9	382	0.0236	-31	c.72+ others(46): Show c.72+1199_72+1229delGGCGGCCTCGACCTGGCCAGGCGGCGGCAG C	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22			chr2	TogoVar
RGS17_chr6_152999459_153136282	153053987	ATATAATA others(24): Show ATATAATATATATACATATATACGTATATATG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00738.hp2 others(44): Show HG00280.hp2 HG00323.hp1 HG00738.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01975.hp1 HG02129.hp2 HG02280.hp2 HG02622.hp1 HG02896.hp2 HG03139.hp2 HG03516.hp1 HG03654.hp2 HG03688.hp1 HG04115.hp1 HG04228.hp1 NA18612.hp2 NA18940.hp2 NA18950.hp1 NA18956.hp2 NA18957.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18999.hp2 NA19007.hp1 NA19030.hp2 NA19065.hp1 NA19067.hp2 NA19076.hp2 NA19080.hp2 NA19086.hp1 NA19087.hp2 NA19240.hp1 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0018 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0011 a0001c0002t0015 a0001c0002t0020 a0001c0002t0021 a0001c0002t0032 a0001c0002t0033	a0001c0001t0001g0280 a0001c0001t0004g0149 a0001c0001t0004g0271 others(43): Show a0001c0001t0001g0280 a0001c0001t0004g0149 a0001c0001t0004g0271 a0001c0001t0007g0147 a0001c0001t0018g0211 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0249 a0001c0002t0001g0323 a0001c0002t0003g0071 a0001c0002t0003g0087 a0001c0002t0003g0088 a0001c0002t0003g0100 a0001c0002t0003g0244 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0248 a0001c0002t0003g0250 a0001c0002t0003g0251 a0001c0002t0003g0252 a0001c0002t0003g0256 a0001c0002t0003g0257 a0001c0002t0003g0259 a0001c0002t0003g0260 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0263 a0001c0002t0003g0264 a0001c0002t0003g0265 a0001c0002t0003g0266 a0001c0002t0003g0268 a0001c0002t0003g0269 a0001c0002t0003g0270 a0001c0002t0003g0272 a0001c0002t0003g0295 a0001c0002t0004g0304 a0001c0002t0004g0322 a0001c0002t0005g0255 a0001c0002t0011g0004 a0001c0002t0015g0062 a0001c0002t0015g0068 a0001c0002t0020g0247 a0001c0002t0021g0067 a0001c0002t0032g0254 a0001c0002t0033g0316	47	338	0.1391	-31	c.-25 others(48): Show c.-25-9975_-25-9945delCATATATACGTATATATGTATATATATT ATA	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
RGS20_chr8_53846795_53964303	53948429	AGATACAG others(24): Show AGATACAGTATATATTTACATATGCTATATAT	A A	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	258	0.0039	-31	c.743 others(48): Show c.743+1784_743+1814delTATATTTACATATGCTATATATGATACA GTA	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS20_chr8_53846795_53964303	53948532	TATATTTA others(24): Show TATATTTACATATGCTATATATGATACAGTAC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02280.hp2 HG03239.hp2 others(4): Show HG01358.hp2 HG02280.hp2 HG03239.hp2 HG04204.hp2 NA18906.hp2 NA18957.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0003t0004	a0001c0001t0001g0163 a0001c0001t0002g0117 a0001c0001t0002g0157 others(4): Show a0001c0001t0001g0163 a0001c0001t0002g0117 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0215 a0001c0001t0009g0136 a0001c0003t0004g0027	7	258	0.0271	-31	c.743 others(48): Show c.743+1868_743+1898delGATACAGTACATATTTACATATGCTATA TAT	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS20_chr8_53846795_53964303	53948641	ATATATAA others(24): Show ATATATAAGATACAGTACATATTTACATATGC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01099.hp1 HG01257.hp2 others(17): Show HG01070.hp1 HG01099.hp1 HG01257.hp2 HG01496.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02004.hp2 HG02074.hp1 HG02698.hp1 HG03239.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG04204.hp1 NA18943.hp1 NA18968.hp2 NA19012.hp1 NA19058.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0061 a0001c0001t0001g0086 a0001c0001t0001g0115 others(17): Show a0001c0001t0001g0061 a0001c0001t0001g0086 a0001c0001t0001g0115 a0001c0001t0001g0178 a0001c0001t0002g0053 a0001c0001t0002g0070 a0001c0001t0002g0111 a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0002g0146 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0175 a0001c0001t0002g0185 a0001c0001t0002g0190 a0001c0001t0002g0212 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0226 a0001c0001t0002g0257	20	258	0.0775	-31	c.743 others(48): Show c.743+2220_743+2250delCATATTTACATATGCTATATAAGATACA GTA	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS4_chr1_163064361_163081802	163071669	TGTATGTC others(24): Show TGTATGTCCTTTAAAGTAGCTATTAAGAAGGA	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	450	0.0022	-31	c.45- others(44): Show c.45-725_45-695delGTATGTCCTTTAAAGTAGCTATTAAGAAGGA	RGS4	ENSG00000117152.14	transcript	ENST00000367909.11	protein_coding	1/4			chr1	TogoVar
RGS6_chr14_71927429_72571530	72415292	CTGTGCTA others(24): Show CTGTGCTAGCAATGAGCGAAGCTCCGTGGGCA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03471.hp1 HG03098.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0040 a0001c0001t0020 a0001c0001t0040	a0001c0001t0020g0120 a0001c0001t0040g0092 a0001c0001t0020g0120 a0001c0001t0040g0092	2	130	0.0154	-31	c.185 others(50): Show c.185-39234_185-39204delGTGCTAGCAATGAGCGAAGCTCCGTG GGCAT	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RHBDL1_chr16_670671_683268	679958	GGCTGGGG others(24): Show GGCTGGGGGCGGGGCCTCTGGATTGGGCGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 NA20300.hp2 HG02976.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	372	0.0054	-31	c.19 others(42): Show c.1907_*1937delGCTGGGGGCGGGGCCTCTGGATTGGGCGGCT	RHBDL1	ENSG00000103269.14	transcript	ENST00000352681.8	protein_coding		1691		chr16	TogoVar

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