Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RINT1_chr7_105527201_105572677	105570240	A A	AAAAAAAT others(26): Show AAAAAAATACATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	368	0.0027	33	c.29 others(44): Show c.2929_*2930insAAAAAATACATATATATATATATATATATATAT	RINT1	ENSG00000135249.8	transcript	ENST00000257700.7	protein_coding		2564		chr7	TogoVar
RINT1_chr7_105527201_105572677	105570240	A A	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	368	0.0027	33	c.29 others(44): Show c.2929_*2930insAAAATATATATATATATATATATATATATATAT	RINT1	ENSG00000135249.8	transcript	ENST00000257700.7	protein_coding		2564		chr7	TogoVar
RIOK2_chr5_97155867_97188247	97179994	T T	TATATATA others(26): Show TATATATATATTATATATATATAATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	410	0.0024	33	c.67- others(46): Show c.67-834_67-802dupTATATATATATTATATATATATAATATATATA T	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTCTTC others(26): Show ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 NA18978.hp1 HG03139.hp2 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0002 a0001c0009t0002 a0001c0002t0002 a0001c0009t0002	a0001c0002t0002g0054 a0001c0009t0002g0078 a0001c0002t0002g0054 a0001c0009t0002g0078	2	448	0.0045	33	c.48 others(44): Show c.4815_*4816insAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3350		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(26): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	448	0.0022	33	c.47 others(44): Show c.4781_*4782insTAATAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(26): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0059 a0001c0002t0002g0059	1	448	0.0022	33	c.47 others(44): Show c.4781_*4782insTAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RIPOR2_chr6_24799284_24940960	24927176	C C	CCACCACC others(26): Show CCACCACCACCACAACTACAGTTACCACCACCAT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0104 a0001c0001t0004g0104	1	328	0.0031	33	c.61+ others(48): Show c.61+8661_61+8662insATGGTGGTGGTAACTGTAGTTGTGGTGGTG GTG	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar
RIPOR2_chr6_24799284_24940960	24927176	C C	CCACCACC others(26): Show CCACCACCACTACAACTACAATCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	328	0.0031	33	c.61+ others(48): Show c.61+8661_61+8662insATGGTGGTGGTGATTGTAGTTGTAGTGGTG GTG	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar
RIPOR2_chr6_24799284_24940960	24927176	C C	CCACCACC others(26): Show CCACCACCACTACAACTACAGTTACCACCACCAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp1 others(139): Show HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01069.hp1 HG01109.hp2 HG01167.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18960.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19057.hp2 NA19058.hp1 NA19062.hp2 NA19065.hp1 NA19077.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0012 a0015 a0016 a0017 a0018 a0020 a0021 a0022	a0001c0001 a0001c0003 a0001c0004 others(17): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0019 a0001c0029 a0002c0002 a0002c0009 a0002c0018 a0003c0005 a0004c0006 a0005c0007 a0012c0020 a0015c0030 a0016c0024 a0017c0028 a0018c0027 a0020c0032 a0021c0031 a0022c0034	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(35): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0023 a0001c0001t0025 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0003t0002 a0001c0003t0005 a0001c0003t0026 a0001c0004t0002 a0001c0004t0003 a0001c0004t0006 a0001c0008t0002 a0001c0019t0001 a0001c0029t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0014 a0002c0002t0015 a0002c0002t0030 a0002c0002t0032 a0002c0009t0006 a0002c0018t0005 a0003c0005t0007 a0004c0006t0003 a0005c0007t0005 a0012c0020t0043 a0015c0030t0001 a0016c0024t0003 a0017c0028t0001 a0018c0027t0004 a0020c0032t0029 a0021c0031t0003 a0022c0034t0034	a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0050 others(139): Show a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0078 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0157 a0001c0001t0001g0221 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0001g0325 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0051 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0070 a0001c0001t0004g0099 a0001c0001t0004g0134 a0001c0001t0004g0147 a0001c0001t0004g0151 a0001c0001t0004g0158 a0001c0001t0004g0219 a0001c0001t0004g0225 a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0267 a0001c0001t0004g0277 a0001c0001t0007g0026 a0001c0001t0007g0156 a0001c0001t0008g0091 a0001c0001t0008g0098 a0001c0001t0008g0148 a0001c0001t0008g0223 a0001c0001t0011g0075 a0001c0001t0011g0128 a0001c0001t0023g0061 a0001c0001t0023g0173 a0001c0001t0025g0069 a0001c0001t0025g0222 a0001c0001t0037g0025 a0001c0001t0039g0077 a0001c0001t0040g0220 a0001c0003t0002g0007 a0001c0003t0002g0030 a0001c0003t0002g0044 a0001c0003t0002g0046 a0001c0003t0002g0047 a0001c0003t0002g0049 a0001c0003t0002g0059 a0001c0003t0002g0068 a0001c0003t0002g0074 a0001c0003t0002g0097 a0001c0003t0002g0102 a0001c0003t0002g0122 a0001c0003t0002g0144 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0002g0160 a0001c0003t0002g0161 a0001c0003t0002g0162 a0001c0003t0002g0207 a0001c0003t0002g0224 a0001c0003t0005g0066 a0001c0003t0026g0135 a0001c0004t0002g0234 a0001c0004t0003g0171 a0001c0004t0006g0010 a0001c0004t0006g0029 a0001c0004t0006g0031 a0001c0004t0006g0043 a0001c0004t0006g0081 a0001c0004t0006g0143 a0001c0004t0006g0155 a0001c0004t0006g0159 a0001c0004t0006g0175 a0001c0004t0006g0176 a0001c0004t0006g0188 a0001c0004t0006g0208 a0001c0008t0002g0138 a0001c0019t0001g0137 a0001c0029t0001g0071 a0002c0002t0003g0060 a0002c0002t0003g0079 a0002c0002t0003g0080 a0002c0002t0003g0103 a0002c0002t0003g0111 a0002c0002t0003g0142 a0002c0002t0003g0170 a0002c0002t0003g0268 a0002c0002t0003g0328 a0002c0002t0005g0039 a0002c0002t0005g0040 a0002c0002t0005g0065 a0002c0002t0005g0072 a0002c0002t0005g0076 a0002c0002t0005g0112 a0002c0002t0005g0113 a0002c0002t0005g0141 a0002c0002t0005g0257 a0002c0002t0014g0178 a0002c0002t0014g0179 a0002c0002t0014g0180 a0002c0002t0015g0265 a0002c0002t0030g0172 a0002c0002t0032g0297 a0002c0009t0006g0174 a0002c0018t0005g0045 a0003c0005t0007g0298 a0004c0006t0003g0109 a0004c0006t0003g0110 a0004c0006t0003g0271 a0004c0006t0003g0272 a0004c0006t0003g0273 a0004c0006t0003g0274 a0005c0007t0005g0121 a0005c0007t0005g0150 a0012c0020t0043g0233 a0015c0030t0001g0048 a0016c0024t0003g0146 a0017c0028t0001g0152 a0018c0027t0004g0073 a0020c0032t0029g0116 a0021c0031t0003g0115 a0022c0034t0034g0009	142	328	0.4329	33	c.61+ others(48): Show c.61+8661_61+8662insATGGTGGTGGTAACTGTAGTTGTAGTGGTG GTG	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar
RIPOR2_chr6_24799284_24940960	24927185	C C	CTACAACT others(26): Show CTACAACTACAGTTACCACCACCATCACCACCAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02622.hp1 others(3): Show HG01884.hp2 HG01891.hp1 HG02622.hp1 HG02723.hp2 HG03195.hp1 NA19030.hp2	a0001 a0007 a0001 a0007	a0001c0004 a0007c0011 a0001c0004 a0007c0011	a0001c0004t0006 a0001c0004t0020 a0001c0004t0021 others(1): Show a0001c0004t0006 a0001c0004t0020 a0001c0004t0021 a0007c0011t0003	a0001c0004t0006g0313 a0001c0004t0020g0321 a0001c0004t0020g0322 others(3): Show a0001c0004t0006g0313 a0001c0004t0020g0321 a0001c0004t0020g0322 a0001c0004t0021g0105 a0001c0004t0021g0106 a0007c0011t0003g0314	6	328	0.0183	33	c.61+ others(48): Show c.61+8652_61+8653insCTGGTGGTGATGGTGGTGGTAACTGTAGTT GTA	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar
RIPOR3_chr20_50581108_50696542	50661399	A A	AAAATAAA others(26): Show AAAATAAACATCTCCATAGCCTTGTGACACATCC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0078 a0008c0017t0001g0078	1	280	0.0036	33	c.3+2 others(48): Show c.3+29694_3+29726dupGGATGTGTCACAAGGCTATGGAGATGTTTA TTT	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RLF_chr1_40156387_40245921	40200914	A A	AGTGGTTT others(26): Show AGTGGTTTATCCTTAGTATAAACCATTGCTACTC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG04199.hp1 NA19057.hp2 HG02027.hp1 HG04199.hp1 NA19057.hp2	a0005 a0007 a0005 a0007	a0005c0005 a0007c0013 a0005c0005 a0007c0013	a0005c0005t0001 a0007c0013t0001 a0005c0005t0001 a0007c0013t0001	a0005c0005t0001g0306 a0007c0013t0001g0172 a0007c0013t0001g0315 a0005c0005t0001g0306 a0007c0013t0001g0172 a0007c0013t0001g0315	3	338	0.0089	33	c.608 others(50): Show c.608-1498_608-1497insGTGGTTTATCCTTAGTATAAACCATTGC TACTC	RLF	ENSG00000117000.9	transcript	ENST00000372771.5	protein_coding	4/7			chr1	TogoVar
RND3_chr2_150463195_150492667	150487474	A A	AAATATAT others(26): Show AAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	420	0.0024	33	c.-38 others(46): Show c.-38-20_-38-19insATATATATATATATATATATATATATATATAT T	RND3	ENSG00000115963.14	transcript	ENST00000263895.9	protein_coding	1/5			chr2	TogoVar
RNF114_chr20_49931397_49958885	49947769	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	426	0.0024	33	c.514 others(50): Show c.514-1471_514-1439dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	RNF114	ENSG00000124226.11	transcript	ENST00000244061.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
RNF128_chrX_106721701_106802016	106789429	A A	AGTATAAT others(26): Show AGTATAATATACATTATACACTATATAATATAGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02486.hp1 others(15): Show HG02109.hp1 HG02109.hp2 HG02486.hp1 HG02572.hp1 HG02630.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG03130.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG06807.hp1 NA19030.hp1 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0027 others(14): Show a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0155	18	209	0.0861	33	c.888 others(48): Show c.888-752_888-751insATATACATTATACACTATATAATATAGTGT ATA	RNF128	ENSG00000133135.14	transcript	ENST00000255499.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
RNF128_chrX_106721701_106802016	106798164	T T	TCCCCCTC others(26): Show TCCCCCTCCCATTTCCAGCCCCACATCACCACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	209	0.0048	33	c.24 others(44): Show c.2451_*2452insCCCCCTCCCATTTCCAGCCCCACATCACCACCA	RNF128	ENSG00000133135.14	transcript	ENST00000255499.3	protein_coding		1149		chrX	TogoVar
RNF130_chr5_179950067_180076759	179998886	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	340	0.0029	33	c.693 others(52): Show c.693+14174_693+14175insTATATATATATATATATATATATATA TATATAT	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	3/8			chr5	TogoVar
RNF130_chr5_179950067_180076759	180015595	G G	GGGAAAGG others(26): Show GGGAAAGGAGTAGGAAAGGAGTAGGAAAGGAGTA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	340	0.0029	33	c.443 others(50): Show c.443-2285_443-2284insTACTCCTTTCCTACTCCTTTCCTACTCC TTTCC	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	2/8			chr5	TogoVar
RNF130_chr5_179950067_180076759	180015619	G G	GGAAAGGA others(26): Show GGAAAGGAGTAGGGAAAGGAGTAGGAAAGGAGTA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0176 a0001c0003t0001g0176	1	340	0.0029	33	c.443 others(50): Show c.443-2309_443-2308insTACTCCTTTCCTACTCCTTTCCCTACTC CTTTC	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	2/8			chr5	TogoVar
RNF13_chr3_149808215_149967139	149860270	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0017 a0001c0002t0004g0017	1	280	0.0036	33	c.195 others(50): Show c.195+7675_195+7676insAAAAAAAAAAAAATATATATATATATAT ATATA	RNF13	ENSG00000082996.20	transcript	ENST00000392894.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RNF13_chr3_149808215_149967139	149865343	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0023 a0001c0002t0004g0023	1	280	0.0036	33	c.196 others(50): Show c.196-6678_196-6677insATATATATATATATATATATATATAATA TATAT	RNF13	ENSG00000082996.20	transcript	ENST00000392894.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RNF141_chr11_10506673_10546187	10539699	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02027.hp1 HG02083.hp1 others(12): Show HG01516.hp1 HG02027.hp1 HG02083.hp1 HG02165.hp2 HG02451.hp2 HG02559.hp2 HG02647.hp2 HG03225.hp1 NA18944.hp1 NA18965.hp1 NA18988.hp1 NA19055.hp2 NA19058.hp2 NA19091.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0002t0001 a0001c0002t0022	a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0003g0179 others(10): Show a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0003g0179 a0001c0001t0007g0168 a0001c0002t0001g0015 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0022g0169	15	374	0.0401	33	c.-48 others(50): Show c.-48+1422_-48+1423insTATATATATATATATATATATATATATA TATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF148_chr7_122696668_122707922	122706286	A A	AATATATA others(26): Show AATATATATATATATGCTTATATATTCAAGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG03139.hp2 NA19010.hp1 others(3): Show HG02132.hp2 HG03139.hp2 NA19010.hp1 NA19057.hp2 NA19082.hp2 NA19084.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0001 a0008c0012t0001 a0001c0001t0001 a0008c0012t0001	a0001c0001t0001g0000 a0008c0012t0001g0000 a0001c0001t0001g0000 a0008c0012t0001g0000	6	432	0.0139	33	c.-35 others(44): Show c.-3537_-3536insATTCCTTGAATATATAAGCATATATATATATAT	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		3365		chr7	TogoVar
RNF150_chr4_140854807_141138469	140899944	T T	TCTCTCTC others(26): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0116 a0001c0001t0015g0116	1	184	0.0054	33	c.119 others(54): Show c.1198+11199_1198+11200insGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAG	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	6/6			chr4	TogoVar
RNF150_chr4_140854807_141138469	140935007	A A	ATATATAT others(26): Show ATATATATATATTATATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19043.hp1 NA21309.hp1 HG02886.hp2 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0005 a0001c0006t0033 a0001c0001t0005 a0001c0006t0033	a0001c0001t0005g0025 a0001c0001t0005g0031 a0001c0006t0033g0177 a0001c0001t0005g0025 a0001c0001t0005g0031 a0001c0006t0033g0177	3	184	0.0163	33	c.891 others(50): Show c.891-8935_891-8934insATATATATATTATATATATATAATATAT ATATA	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	4/6			chr4	TogoVar
RNF150_chr4_140854807_141138469	141096190	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0031 a0001c0001t0005g0031	1	184	0.0054	33	c.484 others(52): Show c.484+36134_484+36135insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6			chr4	TogoVar
RNF19A_chr8_100252067_100314953	100256511	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 NA18947.hp2 NA19079.hp2 others(2): Show HG03130.hp2 NA18947.hp2 NA19079.hp2 NA19240.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0011 a0001c0001t0001g0052 a0001c0001t0001g0218 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0052 a0001c0001t0001g0218 a0001c0001t0007g0191 a0001c0001t0007g0195	5	350	0.0143	33	c.20 others(44): Show c.2044_*2045insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RNF19A	ENSG00000034677.13	transcript	ENST00000341084.7	protein_coding		555		chr8	TogoVar
RNF212_chr4_1066478_1118564	1079066	G G	GGGACCAA others(26): Show GGGACCAACACAGGGTCAACACAGGACCAACATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0011 a0007c0008t0011	a0007c0008t0011g0040 a0007c0008t0011g0040	1	406	0.0025	33	c.510 others(48): Show c.510+544_510+576dupTATGTTGGTCCTGTGTTGACCCTGTGTTGG TCC	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding	8/9			chr4	TogoVar
RNF213_chr17_80255852_80403794	80314256	A A	ATGGTGGT others(26): Show ATGGTGGTCGTGTAGGTGATGGTGGAGGTGATGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0098 a0098	a0098c0109 a0098c0109	a0098c0109t0064 a0098c0109t0064	a0098c0109t0064g0084 a0098c0109t0064g0084	1	292	0.0034	33	c.281 others(52): Show c.2811+1096_2811+1097insCGTGTAGGTGATGGTGGAGGTGATGG TGGTGGT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314301	G G	GTGTAGGT others(26): Show GTGTAGGTGATGGTGGAGGTGATGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00741.hp1 others(17): Show HG00408.hp1 HG00438.hp2 HG00741.hp1 HG01891.hp1 HG02015.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02647.hp2 HG03491.hp1 HG03831.hp2 NA18947.hp2 NA18957.hp2 NA18970.hp1 NA18975.hp2 NA18983.hp2 NA18998.hp2 NA19007.hp2 NA19060.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0027 a0034 a0041 a0058 a0063 a0064 a0065 a0073 a0085 a0094	a0001c0001 a0001c0006 a0002c0002 others(13): Show a0001c0001 a0001c0006 a0002c0002 a0002c0058 a0003c0074 a0004c0047 a0027c0025 a0034c0140 a0041c0102 a0058c0130 a0063c0052 a0064c0059 a0065c0062 a0073c0069 a0085c0086 a0094c0041	a0001c0001t0001 a0001c0001t0002 a0001c0006t0010 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0010 a0002c0002t0010 a0002c0002t0051 a0002c0058t0004 a0003c0074t0011 a0004c0047t0065 a0027c0025t0013 a0034c0140t0013 a0041c0102t0003 a0058c0130t0031 a0063c0052t0073 a0064c0059t0060 a0065c0062t0070 a0073c0069t0019 a0085c0086t0007 a0094c0041t0061	a0001c0001t0001g0118 a0001c0001t0001g0261 a0001c0001t0001g0267 others(17): Show a0001c0001t0001g0118 a0001c0001t0001g0261 a0001c0001t0001g0267 a0001c0001t0002g0139 a0001c0006t0010g0119 a0002c0002t0010g0113 a0002c0002t0051g0256 a0002c0058t0004g0219 a0003c0074t0011g0163 a0004c0047t0065g0150 a0027c0025t0013g0260 a0034c0140t0013g0179 a0041c0102t0003g0020 a0058c0130t0031g0012 a0063c0052t0073g0242 a0064c0059t0060g0137 a0065c0062t0070g0127 a0073c0069t0019g0151 a0085c0086t0007g0204 a0094c0041t0061g0233	20	292	0.0685	33	c.281 others(52): Show c.2811+1134_2811+1135insTGTAGGTGATGGTGGAGGTGATGGTG GTGGTGA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67			chr17	TogoVar
RNF213_chr17_80255852_80403794	80314343	G G	GTGGAGGT others(26): Show GTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02451.hp2 HG02735.hp1 others(6): Show HG00738.hp1 HG02451.hp2 HG02735.hp1 HG03041.hp1 HG03209.hp1 HG03225.hp2 NA18973.hp2 NA19062.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0016 others(5): Show a0001 a0002 a0016 a0055 a0056 a0070 a0080 a0096	a0001c0001 a0002c0002 a0016c0014 others(5): Show a0001c0001 a0002c0002 a0016c0014 a0055c0048 a0056c0049 a0070c0066 a0080c0073 a0096c0107	a0001c0001t0001 a0001c0001t0002 a0002c0002t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0004 a0016c0014t0041 a0055c0048t0063 a0056c0049t0025 a0070c0066t0040 a0080c0073t0069 a0096c0107t0039	a0001c0001t0001g0226 a0001c0001t0002g0227 a0002c0002t0004g0117 others(6): Show a0001c0001t0001g0226 a0001c0001t0002g0227 a0002c0002t0004g0117 a0016c0014t0041g0222 a0055c0048t0063g0245 a0056c0049t0025g0243 a0070c0066t0040g0030 a0080c0073t0069g0158 a0096c0107t0039g0081	9	292	0.0308	33	c.281 others(52): Show c.2811+1179_2811+1180insAGGTACTGGAGGTGATGGTGGTGGTG GTGATGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314418	G G	GTGATGGT others(26): Show GTGATGGTGGAGGTGGTGGAGGTAATGGAGGTGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00733.hp2 others(6): Show HG00140.hp1 HG00280.hp2 HG00733.hp2 HG00735.hp1 HG01168.hp1 HG01517.hp2 HG01934.hp2 HG01993.hp1 HG02015.hp2	a0001 a0002 a0016 others(4): Show a0001 a0002 a0016 a0022 a0049 a0057 a0060	a0001c0001 a0001c0004 a0002c0002 others(5): Show a0001c0001 a0001c0004 a0002c0002 a0016c0014 a0022c0090 a0049c0093 a0057c0050 a0060c0063	a0001c0001t0002 a0001c0004t0068 a0002c0002t0003 others(5): Show a0001c0001t0002 a0001c0004t0068 a0002c0002t0003 a0016c0014t0017 a0022c0090t0008 a0049c0093t0001 a0057c0050t0017 a0060c0063t0017	a0001c0001t0002g0157 a0001c0004t0068g0125 a0002c0002t0003g0194 others(6): Show a0001c0001t0002g0157 a0001c0004t0068g0125 a0002c0002t0003g0194 a0016c0014t0017g0220 a0016c0014t0017g0221 a0022c0090t0008g0092 a0049c0093t0001g0101 a0057c0050t0017g0223 a0060c0063t0017g0234	9	292	0.0308	33	c.281 others(52): Show c.2811+1253_2811+1254insATGGTGGAGGTGGTGGAGGTAATGGA GGTGATG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314694	G G	GTGATGGT others(26): Show GTGATGGTGGAGGTGGTGGAGGTAATGGAGGTGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02055.hp2 NA18942.hp2 others(1): Show HG00735.hp2 HG02055.hp2 NA18942.hp2 NA19077.hp1	a0005 a0006 a0099 others(1): Show a0005 a0006 a0099 a0100	a0005c0007 a0006c0011 a0099c0043 others(1): Show a0005c0007 a0006c0011 a0099c0043 a0100c0046	a0005c0007t0003 a0006c0011t0010 a0099c0043t0003 others(1): Show a0005c0007t0003 a0006c0011t0010 a0099c0043t0003 a0100c0046t0013	a0005c0007t0003g0235 a0006c0011t0010g0189 a0099c0043t0003g0045 others(1): Show a0005c0007t0003g0235 a0006c0011t0010g0189 a0099c0043t0003g0045 a0100c0046t0013g0198	4	292	0.0137	33	c.281 others(52): Show c.2811+1529_2811+1530insATGGTGGAGGTGGTGGAGGTAATGGA GGTGATG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314778	G G	GTGGTGGT others(26): Show GTGGTGGTGGTGGTGGTGGTGGTAATGGAGGTGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02735.hp1 HG00738.hp1 HG02735.hp1	a0002 a0080 a0002 a0080	a0002c0002 a0080c0073 a0002c0002 a0080c0073	a0002c0002t0004 a0080c0073t0069 a0002c0002t0004 a0080c0073t0069	a0002c0002t0004g0117 a0080c0073t0069g0158 a0002c0002t0004g0117 a0080c0073t0069g0158	2	292	0.0069	33	c.281 others(52): Show c.2811+1617_2811+1618insTGGTGGTGGTGGTGGTAATGGAGGTG ATGGTGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314802	G G	GTGGTAAA others(26): Show GTGGTAAAGGTGATGGTGGAGGTACTGGAGGTGA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	292	0.0034	33	c.281 others(52): Show c.2811+1639_2811+1640insAAAGGTGATGGTGGAGGTACTGGAGG TGATGGT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315138	A A	ATGGTGGT others(26): Show ATGGTGGTGGTGTAGGTGATGGTGGAGGTGATGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00733.hp2 others(14): Show HG00140.hp1 HG00280.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01167.hp1 HG01168.hp1 HG01496.hp1 HG01517.hp2 HG01934.hp2 HG01993.hp1 HG02735.hp1 HG03688.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0016 others(5): Show a0001 a0002 a0016 a0022 a0049 a0057 a0060 a0080	a0001c0004 a0002c0002 a0016c0014 others(5): Show a0001c0004 a0002c0002 a0016c0014 a0022c0090 a0049c0093 a0057c0050 a0060c0063 a0080c0073	a0001c0004t0068 a0002c0002t0003 a0002c0002t0004 others(11): Show a0001c0004t0068 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0009 a0002c0002t0010 a0002c0002t0032 a0016c0014t0017 a0016c0014t0041 a0022c0090t0008 a0049c0093t0001 a0057c0050t0017 a0060c0063t0017 a0080c0073t0069	a0001c0004t0068g0125 a0002c0002t0003g0194 a0002c0002t0004g0117 others(13): Show a0001c0004t0068g0125 a0002c0002t0003g0194 a0002c0002t0004g0117 a0002c0002t0005g0096 a0002c0002t0005g0214 a0002c0002t0009g0215 a0002c0002t0010g0154 a0002c0002t0032g0001 a0016c0014t0017g0220 a0016c0014t0017g0221 a0016c0014t0041g0222 a0022c0090t0008g0092 a0049c0093t0001g0101 a0057c0050t0017g0223 a0060c0063t0017g0234 a0080c0073t0069g0158	17	292	0.0582	33	c.281 others(52): Show c.2811+1978_2811+1979insGGTGTAGGTGATGGTGGAGGTGATGG TGGTGGT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315517	A A	AGGTGATG others(26): Show AGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03209.hp1 HG03704.hp2 HG03041.hp1 HG03209.hp1 HG03704.hp2	a0055 a0072 a0096 a0055 a0072 a0096	a0055c0048 a0072c0067 a0096c0107 a0055c0048 a0072c0067 a0096c0107	a0055c0048t0063 a0072c0067t0008 a0096c0107t0039 a0055c0048t0063 a0072c0067t0008 a0096c0107t0039	a0055c0048t0063g0245 a0072c0067t0008g0206 a0096c0107t0039g0081 a0055c0048t0063g0245 a0072c0067t0008g0206 a0096c0107t0039g0081	3	292	0.0103	33	c.281 others(52): Show c.2812-1655_2812-1654insATGGAGGTGGTGGTGGTGGTGATGGT GGAGGTA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF223_chr1_1065967_1079306	1078991	A A	AGGCTATG others(26): Show AGGCTATGGGGACTCCGTGGTGGGGGAGGCTGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	33	c.-49 others(44): Show c.-4986_-4985insCTCAGCCTCCCCCACCACGGAGTCCCCATAGCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4686		chr1	TogoVar
RNF2_chr1_185040558_185107603	185082345	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0224 a0001c0001t0017g0224	1	350	0.0029	33	c.-2- others(48): Show c.-2-5185_-2-5184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF4_chr4_2464106_2520857	2466647	T T	TGTGTGTG others(26): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 NA19054.hp1 HG03654.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0169 a0001c0001t0005g0021 a0001c0001t0002g0169 a0001c0001t0005g0021	2	378	0.0053	33	c.-27 others(44): Show c.-2769_-2768insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding		2458		chr4	TogoVar
RNF4_chr4_2464106_2520857	2518307	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0278 a0001c0001t0004g0278	1	378	0.0027	33	c.44 others(44): Show c.4488_*4489insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding		2451		chr4	TogoVar
RNFT2_chr12_116733315_116858631	116832148	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0036 a0001c0003t0005g0036	1	268	0.0037	33	c.883 others(50): Show c.883-1644_883-1643insTATATATATATATATATATATATATATA TATAT	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10			chr12	TogoVar
RNGTT_chr6_88604897_88968618	88647701	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	220	0.0046	33	c.150 others(54): Show c.1506+30651_1506+30652insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	14/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88752134	T T	TTTATATT others(26): Show TTTATATTTTGAAGCTGTCATATGCTAGAGGATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0220 a0001c0001t0016g0220	1	220	0.0046	33	c.143 others(54): Show c.1439+17607_1439+17639dupTATCCTCTAGCATATGACAGCTTC AAAATATAA	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
RNLS_chr10_88279102_88588318	88586012	C C	CCACTTAT others(26): Show CCACTTATCTATGGCAGAAGAAAACCTTTACTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	232	0.0043	33	c.-28 others(44): Show c.-2823_-2822insTAAGTAAAGGTTTTCTTCTGCCATAGATAAGTG	RNLS	ENSG00000184719.13	transcript	ENST00000331772.9	protein_coding		2695		chr10	TogoVar
ROBO1_chr3_78592239_79772998	79183080	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0003 a0001c0007t0003g0003	1	44	0.0227	33	c.89- others(50): Show c.89-57542_89-57541insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79550195	G G	GAAAGAAA others(26): Show GAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0044 a0001c0002t0016g0044	1	44	0.0227	33	c.88+ others(50): Show c.88+39628_88+39629insTTTTCTTTCTTTCCTTTCTTTCTTTCTT TCTTT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79550195	G G	GAAAGAAA others(26): Show GAAAGAAAGGAAAAGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	44	0.0227	33	c.88+ others(50): Show c.88+39628_88+39629insTTTTCTTTTCTTTTCTTTTCTTTTCCTT TCTTT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO2_chr3_77035099_77654964	77133636	T T	TTTTATTT others(26): Show TTTTATTTATATTTATTCCTAATGAAATTTTTTA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp2 HG02809.hp2 HG02559.hp2 HG02622.hp2 HG02809.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0005 a0002c0004 a0009c0007 a0001c0005 a0002c0004 a0009c0007	a0001c0005t0018 a0002c0004t0001 a0009c0007t0002 a0001c0005t0018 a0002c0004t0001 a0009c0007t0002	a0001c0005t0018g0086 a0002c0004t0001g0136 a0009c0007t0002g0088 a0001c0005t0018g0086 a0002c0004t0001g0136 a0009c0007t0002g0088	3	160	0.0188	33	c.388 others(52): Show c.388+35301_388+35302insTTATATTTATTCCTAATGAAATTTTT TATTTAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK1_chr18_20941906_21116813	21033854	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	212	0.0047	33	c.105 others(52): Show c.1052-4920_1052-4919insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	9/32			chr18	TogoVar

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