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
RIMS1_chr6_71881550_72408145	72153047	T T	TATATATG others(27): Show TATATATGTATATATTCCCTATGTATATATATGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG02559.hp1 others(2): Show HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02818.hp1 HG03195.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0016 a0001c0001 a0001c0003 a0004c0016	a0001c0001t0001 a0001c0001t0005 a0001c0003t0007 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0007 a0004c0016t0002	a0001c0001t0001g0003 a0001c0001t0001g0050 a0001c0001t0005g0043 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0050 a0001c0001t0005g0043 a0001c0003t0007g0095 a0004c0016t0002g0068	5	140	0.0357	34	c.472 others(53): Show c.472-26441_472-26408dupTATGTATATATATGGAATATATGTAT ATATTCCC	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	4/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIMS2_chr8_103495610_104259430	103834742	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0154 a0001c0001t0004g0154	1	172	0.0058	34	c.831 others(53): Show c.831-50553_831-50552insTTCTTTCTTTCTTTCTTTCTCTCTCT CTCTCTCT	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIN3_chr14_92508781_92693994	92561038	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0039 a0002c0002t0001g0039	1	334	0.0030	34	c.249 others(51): Show c.249+5084_249+5085insTATATATATATATATATATATATATATA TATATA	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92561042	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03834.hp1 NA18960.hp1 HG02071.hp2 HG03834.hp1 NA18960.hp1	a0003 a0005 a0009 a0003 a0005 a0009	a0003c0003 a0005c0006 a0009c0008 a0003c0003 a0005c0006 a0009c0008	a0003c0003t0003 a0005c0006t0001 a0009c0008t0001 a0003c0003t0003 a0005c0006t0001 a0009c0008t0001	a0003c0003t0003g0154 a0005c0006t0001g0315 a0009c0008t0001g0305 a0003c0003t0003g0154 a0005c0006t0001g0315 a0009c0008t0001g0305	3	334	0.0090	34	c.249 others(51): Show c.249+5088_249+5089insTATATATATATATATATATATATATATA TATATA	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92561044	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01358.hp1 HG01433.hp1 HG00738.hp1 HG01358.hp1 HG01433.hp1	a0003 a0007 a0009 a0003 a0007 a0009	a0003c0003 a0007c0007 a0009c0008 a0003c0003 a0007c0007 a0009c0008	a0003c0003t0001 a0007c0007t0001 a0009c0008t0001 a0003c0003t0001 a0007c0007t0001 a0009c0008t0001	a0003c0003t0001g0109 a0007c0007t0001g0097 a0009c0008t0001g0147 a0003c0003t0001g0109 a0007c0007t0001g0097 a0009c0008t0001g0147	3	334	0.0090	34	c.249 others(51): Show c.249+5090_249+5091insAAAATATATATATATATATATATATATA TATATA	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92561044	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0024 a0024	a0024c0046 a0024c0046	a0024c0046t0001 a0024c0046t0001	a0024c0046t0001g0095 a0024c0046t0001g0095	1	334	0.0030	34	c.249 others(51): Show c.249+5090_249+5091insAATATATATATATATATATATATATATA TATATA	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92561044	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18975.hp2 NA18954.hp1 NA18975.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0036 a0004c0004t0001g0168 a0001c0001t0001g0036 a0004c0004t0001g0168	2	334	0.0060	34	c.249 others(51): Show c.249+5101_249+5102insATATATATATATATATATATATATATAT ATATAT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIOK3_chr18_23448287_23488140	23469316	T T	TCTCTCCT others(27): Show TCTCTCCTCTCCACTCTCTCCCCCCTCGTCTCCCC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0290 a0001c0001t0002g0290	1	402	0.0025	34	c.815 others(51): Show c.815+1795_815+1796insCTCTCCACTCTCTCCCCCCTCGTCTCCC CCTCTC	RIOK3	ENSG00000101782.15	transcript	ENST00000339486.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
RIOK3_chr18_23448287_23488140	23487558	A A	AAAGAAAG others(27): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	402	0.0025	34	c.62 others(45): Show c.6279_*6280insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	RIOK3	ENSG00000101782.15	transcript	ENST00000339486.8	protein_coding		4419		chr18	TogoVar
RIOX2_chr3_97936818_97977431	97946586	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0178 a0003c0003t0001g0178	1	370	0.0027	34	c.115 others(51): Show c.1150-700_1150-699insTATATATATATATATATATATATATATA TATATA	RIOX2	ENSG00000170854.18	transcript	ENST00000394198.7	protein_coding	8/9			chr3	TogoVar
RIPOR3_chr20_50581108_50696542	50682612	A A	ATGTGTGT others(27): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0002 a0001c0001t0006g0002	1	280	0.0036	34	c.3+8 others(47): Show c.3+8513_3+8514insCACACACACACACACACACACACACACACACA CA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RMDN3_chr15_40730887_40760254	40741620	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	404	0.0025	34	c.911 others(51): Show c.911-1428_911-1427insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	RMDN3	ENSG00000137824.16	transcript	ENST00000338376.8	protein_coding	6/12			chr15	TogoVar
RMND5A_chr2_86715291_86783041	86737574	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0053 a0001c0005t0011g0053	1	304	0.0033	34	c.143 others(51): Show c.143-3333_143-3332insATATATATATATATATATATATATATAT ATATAT	RMND5A	ENSG00000153561.13	transcript	ENST00000283632.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNASE8_chr14_21052822_21063455	21057618	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 NA18966.hp2 HG00597.hp2 NA18966.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	2	448	0.0045	34	c.-27 others(43): Show c.-275_-274insATATATATATATATATATATATATATATATATAT	RNASE8	ENSG00000173431.2	transcript	ENST00000308227.2	protein_coding		203		chr14	TogoVar
RNASE8_chr14_21052822_21063455	21062708	A A	AGTGTGTG others(27): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA19087.hp1 NA18966.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	448	0.0045	34	c.43 others(45): Show c.4351_*4352insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	RNASE8	ENSG00000173431.2	transcript	ENST00000308227.2	protein_coding		4254		chr14	TogoVar
RNF11_chr1_51231273_51278447	51234283	T T	TTCTTTCT others(27): Show TTCTTTCTCTTTCTTTCTTTCTTTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	274	0.0037	34	c.-24 others(45): Show c.-2474_-2473insTCTTTCTCTTTCTTTCTTTCTTTTTCTTTCTTTC	RNF11	ENSG00000123091.5	transcript	ENST00000242719.4	protein_coding		1989		chr1	TogoVar
RNF121_chr11_71924046_72002597	71942803	T T	TATATATA others(27): Show TATATATATATATATATATATATATATGTACACAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0227 a0001c0002t0006g0227	1	254	0.0039	34	c.63+ others(51): Show c.63+13680_63+13681insTATATATATATATATATATATATATGTA CACAAA	RNF121	ENSG00000137522.18	transcript	ENST00000361756.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RNF130_chr5_179950067_180076759	179998857	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18943.hp1 NA18963.hp1 others(1): Show HG01261.hp2 NA18943.hp1 NA18963.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0003t0001g0144 others(1): Show a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0003t0001g0144 a0001c0003t0001g0185	4	340	0.0118	34	c.693 others(53): Show c.693+14203_693+14204insTATATATATATATATATATATATATA TATATATA	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	3/8			chr5	TogoVar
RNF130_chr5_179950067_180076759	179998859	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	340	0.0029	34	c.693 others(53): Show c.693+14201_693+14202insTATATATATATATATATATATATATA TATATATA	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	3/8			chr5	TogoVar
RNF130_chr5_179950067_180076759	180015607	G G	GGGAAAGG others(27): Show GGGAAAGGAGTAGGAAAGGAGTAGGGAAAGGAGTA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	340	0.0029	34	c.443 others(51): Show c.443-2297_443-2296insTACTCCTTTCCCTACTCCTTTCCTACTC CTTTCC	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	2/8			chr5	TogoVar
RNF130_chr5_179950067_180076759	180015619	G G	GGAAAGGA others(27): Show GGAAAGGAGTAGGGAAAGGAGTAGGGAAAGGAGTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG00738.hp2 others(39): Show HG00280.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG02004.hp2 HG02074.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03453.hp1 HG03704.hp1 HG04184.hp1 HG04228.hp1 NA18942.hp2 NA18953.hp1 NA18954.hp1 NA19056.hp1 NA19070.hp2 NA19240.hp1 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0001c0005t0003 a0001c0006t0001	a0001c0001t0001g0333 a0001c0002t0001g0049 a0001c0002t0001g0094 others(36): Show a0001c0001t0001g0333 a0001c0002t0001g0049 a0001c0002t0001g0094 a0001c0002t0001g0104 a0001c0002t0004g0084 a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0003 a0001c0003t0001g0150 a0001c0003t0001g0156 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0173 a0001c0003t0001g0174 a0001c0003t0001g0175 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0184 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0192 a0001c0003t0002g0157 a0001c0003t0002g0167 a0001c0005t0003g0161 a0001c0005t0003g0190 a0001c0005t0003g0191 a0001c0006t0001g0195 a0001c0006t0001g0196 a0001c0006t0001g0197	42	340	0.1235	34	c.443 others(51): Show c.443-2309_443-2308insTACTCCTTTCCCTACTCCTTTCCCTACT CCTTTC	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	2/8			chr5	TogoVar
RNF130_chr5_179950067_180076759	180015631	G G	GGAAAGGA others(27): Show GGAAAGGAGTAGGGAAAGGAGTAGGGAAAGGAGTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(58): Show HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00733.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01192.hp1 HG01358.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp2 HG01952.hp1 HG01981.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02155.hp1 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02647.hp1 HG02647.hp2 HG02738.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03654.hp1 HG03834.hp2 NA18906.hp1 NA18950.hp1 NA18951.hp1 NA18955.hp2 NA18962.hp1 NA18974.hp2 NA18989.hp1 NA18998.hp1 NA19004.hp1 NA19007.hp1 NA19054.hp1 NA19055.hp1 NA19057.hp2 NA19068.hp1 NA19077.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp2 NA19086.hp2 NA19091.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0011 a0001c0012	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0004t0005 a0001c0011t0001 a0001c0012t0001	a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 others(58): Show a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0004t0001g0131 a0001c0004t0001g0132 a0001c0004t0001g0133 a0001c0004t0001g0134 a0001c0004t0001g0135 a0001c0004t0001g0136 a0001c0004t0001g0137 a0001c0004t0001g0138 a0001c0004t0001g0139 a0001c0004t0001g0141 a0001c0004t0005g0140 a0001c0011t0001g0143 a0001c0012t0001g0289	61	340	0.1794	34	c.443 others(51): Show c.443-2321_443-2320insTACTCCTTTCCCTACTCCTTTCCCTACT CCTTTC	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	2/8			chr5	TogoVar
RNF141_chr11_10506673_10546187	10539691	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01168.hp1 HG01261.hp2 others(9): Show HG01106.hp2 HG01168.hp1 HG01261.hp2 HG01516.hp2 HG01517.hp2 HG02109.hp1 HG02132.hp2 HG02965.hp1 HG03041.hp2 HG06807.hp1 NA18964.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0040 a0001c0001t0002g0259 a0001c0001t0002g0260 others(8): Show a0001c0001t0002g0040 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0004g0093 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0258	12	374	0.0321	34	c.-48 others(51): Show c.-48+1430_-48+1431insATATATATATATATATATATATATATAT ATATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF145_chr5_159152409_159214553	159166040	A A	AGTACCAT others(27): Show AGTACCATGGGATATCCTGTGGAGCTGCAACTTCC	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	394	0.0025	34	c.112 others(53): Show c.1121+2799_1121+2832dupGGAAGTTGCAGCTCCACAGGATATCC CATGGTAC	RNF145	ENSG00000145860.13	transcript	ENST00000424310.7	protein_coding	8/10			chr5	TogoVar
RNF157_chr17_76137474_76245493	76182760	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp2 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0016 a0001c0005t0008 a0001c0001t0016 a0001c0005t0008	a0001c0001t0016g0113 a0001c0005t0008g0017 a0001c0001t0016g0113 a0001c0005t0008g0017	2	234	0.0086	34	c.208 others(51): Show c.208-8971_208-8970insATATATATATATATATATATATATATAT ATATAT	RNF157	ENSG00000141576.16	transcript	ENST00000269391.11	protein_coding	2/18			chr17	TogoVar
RNF175_chr4_153705160_153765024	153764985	C C	CCGCCTGA others(27): Show CCGCCTGATGGTTCCCTTCCAGAGGTCAACTCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	394	0.0025	34	c.-51 others(45): Show c.-5124_-5123insCCCGAGTTGACCTCTGGAAGGGAACCATCAGGCG	RNF175	ENSG00000145428.15	transcript	ENST00000347063.9	protein_coding		4962		chr4	TogoVar
RNF17_chr13_24759169_24884921	24797705	A A	AGTTTGTG others(27): Show AGTTTGTGTGTCTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0099 a0005c0005t0001g0099	1	426	0.0024	34	c.139 others(53): Show c.1399+1412_1399+1413insTTGTGTGTCTGTGTGTGTGTGTGTGT GTGTGTGT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding	11/35		INFO_REALIGN_3_PRIME	chr13	TogoVar
RNF17_chr13_24759169_24884921	24858575	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	426	0.0024	34	c.361 others(51): Show c.3611-408_3611-407insATATATATATATATATATATATATATAT ATATAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding	25/35		INFO_REALIGN_3_PRIME	chr13	TogoVar
RNF17_chr13_24759169_24884921	24881893	C C	CATCTATA others(27): Show CATCTATATAGATATATAATCTATATAGATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01928.hp2 HG01952.hp2 others(3): Show HG01255.hp1 HG01928.hp2 HG01952.hp2 HG02004.hp1 HG02145.hp2 HG04204.hp1	a0001 a0003 a0018 a0001 a0003 a0018	a0001c0001 a0003c0006 a0018c0023 a0001c0001 a0003c0006 a0018c0023	a0001c0001t0001 a0003c0006t0001 a0018c0023t0001 a0001c0001t0001 a0003c0006t0001 a0018c0023t0001	a0001c0001t0001g0199 a0001c0001t0001g0228 a0001c0001t0001g0298 others(3): Show a0001c0001t0001g0199 a0001c0001t0001g0228 a0001c0001t0001g0298 a0003c0006t0001g0090 a0003c0006t0001g0168 a0018c0023t0001g0184	6	426	0.0141	34	c.21 others(45): Show c.2167_*2168insATCTATATAGATATATAATCTATATAGATATATA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1973		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881915	C C	CATCTATA others(27): Show CATCTATATAGATATATAATCTATATAGATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG03490.hp1 HG03492.hp2 others(2): Show HG02155.hp1 HG03490.hp1 HG03492.hp2 NA18612.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0287 others(2): Show a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0300	5	426	0.0117	34	c.21 others(45): Show c.2189_*2190insATCTATATAGATATATAATCTATATAGATATATA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1995		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881937	C C	CATCTATA others(27): Show CATCTATATAGATATATAATCTATATAGATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	426	0.0024	34	c.22 others(45): Show c.2211_*2212insATCTATATAGATATATAATCTATATAGATATATA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2017		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882028	A A	ATACATCT others(27): Show ATACATCTATATAGATACATCTATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	426	0.0024	34	c.23 others(45): Show c.2302_*2303insTACATCTATATAGATACATCTATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2108		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882151	G G	GATAGATA others(27): Show GATAGATATATAGATACATCTATATAGATAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03491.hp2 HG03492.hp1 HG01891.hp1 HG03491.hp2 HG03492.hp1	a0002 a0011 a0002 a0011	a0002c0003 a0011c0012 a0002c0003 a0011c0012	a0002c0003t0001 a0011c0012t0001 a0002c0003t0001 a0011c0012t0001	a0002c0003t0001g0347 a0002c0003t0001g0348 a0011c0012t0001g0324 a0002c0003t0001g0347 a0002c0003t0001g0348 a0011c0012t0001g0324	3	426	0.0070	34	c.24 others(45): Show c.2425_*2426insATAGATATATAGATACATCTATATAGATAGATAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2231		chr13	TogoVar
RNF19A_chr8_100252067_100314953	100256511	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG02056.hp2 HG02145.hp1 others(4): Show HG00544.hp1 HG02056.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp2 HG03540.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0011 a0001c0001t0001g0042 a0001c0001t0001g0176 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0042 a0001c0001t0001g0176 a0001c0005t0001g0211	7	350	0.0200	34	c.20 others(45): Show c.2044_*2045insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RNF19A	ENSG00000034677.13	transcript	ENST00000341084.7	protein_coding		555		chr8	TogoVar
RNF213_chr17_80255852_80403794	80355543	A A	ACGGGAAT others(27): Show ACGGGAATCGGGGCTCACGGAGGAAGAGGGGTGAC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02683.hp2 HG06807.hp2 HG01993.hp2 HG02683.hp2 HG06807.hp2	a0005 a0009 a0005 a0009	a0005c0007 a0009c0016 a0005c0007 a0009c0016	a0005c0007t0004 a0009c0016t0003 a0005c0007t0004 a0009c0016t0003	a0005c0007t0004g0207 a0005c0007t0004g0211 a0009c0016t0003g0138 a0005c0007t0004g0207 a0005c0007t0004g0211 a0009c0016t0003g0138	3	292	0.0103	34	c.108 others(53): Show c.10862+974_10862+975insCGGGGCTCACGGAGGAAGAGGGGTGA CCGGGAAT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355767	T T	TGGGAATC others(27): Show TGGGAATCGGGGCTCACGGAGGAAGAGGGGTGACC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0038 a0038	a0038c0146 a0038c0146	a0038c0146t0048 a0038c0146t0048	a0038c0146t0048g0172 a0038c0146t0048g0172	1	292	0.0034	34	c.108 others(55): Show c.10862+1197_10862+1198insCGGGGCTCACGGAGGAAGAGGGGT GACCGGGAAT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF216_chr7_5615047_5786663	5768346	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01169.hp2 HG01361.hp2 others(5): Show HG00741.hp1 HG01169.hp2 HG01361.hp2 HG01433.hp2 HG01952.hp1 HG02486.hp1 HG02572.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0038	a0001c0001t0001g0192 a0001c0001t0001g0215 a0001c0001t0001g0221 others(5): Show a0001c0001t0001g0192 a0001c0001t0001g0215 a0001c0001t0001g0221 a0001c0001t0001g0236 a0001c0001t0004g0203 a0001c0001t0004g0228 a0001c0001t0012g0201 a0001c0001t0038g0205	8	274	0.0292	34	c.-69 others(51): Show c.-69-7242_-69-7209dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	RNF216	ENSG00000011275.19	transcript	ENST00000389902.8	protein_coding	1/16			chr7	TogoVar
RNF26_chr11_119329527_119342309	119337970	C C	CGGTAGCT others(27): Show CGGTAGCTCAGGGGGGGGGGGGGGGGGGGTGCCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	422	0.0024	34	c.15 others(45): Show c.1546_*1547insGGTAGCTCAGGGGGGGGGGGGGGGGGGGTGCCGA	RNF26	ENSG00000173456.5	transcript	ENST00000311413.5	protein_coding		662		chr11	TogoVar
RNF2_chr1_185040558_185107603	185082345	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA19055.hp2 HG00741.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0095 a0001c0001t0004g0196 a0001c0001t0001g0095 a0001c0001t0004g0196	2	350	0.0057	34	c.-2- others(49): Show c.-2-5185_-2-5184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF4_chr4_2464106_2520857	2466647	T T	TTGTGTGT others(27): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG03041.hp1 others(2): Show HG02622.hp1 HG02630.hp1 HG03041.hp1 NA18952.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0002g0183 others(2): Show a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0002g0183 a0001c0001t0002g0264 a0001c0001t0004g0352	5	378	0.0132	34	c.-27 others(45): Show c.-2769_-2768insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding		2458		chr4	TogoVar
RNFT2_chr12_116733315_116858631	116782079	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03654.hp1 HG01261.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0057 a0001c0001t0019 a0001c0001t0057	a0001c0001t0019g0187 a0001c0001t0057g0188 a0001c0001t0019g0187 a0001c0001t0057g0188	2	268	0.0075	34	c.882 others(51): Show c.882+2746_882+2747insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNGTT_chr6_88604897_88968618	88621862	G G	GCATGATA others(27): Show GCATGATAATAAAGTTCCCTCTGCTTTAATCCTTA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	220	0.0046	34	c.150 others(53): Show c.1507-7501_1507-7468dupTAAGGATTAAAGCAGAGGGAACTTTA TTATCATG	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	14/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88929886	A A	ATATATAC others(27): Show ATATATACATATGTATACATATGCATATATACACG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	220	0.0046	34	c.175 others(49): Show c.175-653_175-620dupCGTGTATATATGCATATGTATACATATGTA TATA	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	2/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88929915	T T	TACACGTA others(27): Show TACACGTATATACATATGTATACATATGCATATAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02818.hp2 HG01069.hp1 HG01071.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0005g0157 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0005g0157	3	220	0.0136	34	c.175 others(49): Show c.175-682_175-649dupGTATATGCATATGTATACATATGTATATAC GTGT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	2/15			chr6	TogoVar
RNH1_chr11_489515_512242	497266	T T	TGTGCTCA others(27): Show TGTGCTCACACACGGACCCTCGTGCTCACTCTCAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02280.hp1 others(7): Show HG02109.hp2 HG02145.hp1 HG02280.hp1 HG02451.hp1 HG02630.hp2 HG03471.hp1 HG03486.hp1 NA18522.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0028 a0001c0005t0001g0139 a0001c0005t0001g0148 others(5): Show a0001c0005t0001g0028 a0001c0005t0001g0139 a0001c0005t0001g0148 a0001c0005t0001g0149 a0001c0005t0001g0150 a0001c0005t0001g0151 a0001c0005t0001g0152 a0001c0005t0001g0175	10	387	0.0258	34	c.112 others(51): Show c.1127+704_1127+705insGTGAGAGTGAGCACGAGGGTCCGTGTGT GAGCAC	RNH1	ENSG00000023191.17	transcript	ENST00000354420.7	protein_coding	9/10			chr11	TogoVar
RNH1_chr11_489515_512242	497433	T T	TCTCTCGC others(27): Show TCTCTCGCCCATGTGCTCACACACACTCGTGCTCC	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19086.hp1 NA19072.hp2 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0119 a0001c0002t0002g0144 a0001c0002t0002g0119 a0001c0002t0002g0144	2	387	0.0052	34	c.112 others(51): Show c.1127+504_1127+537dupGGAGCACGAGTGTGTGTGAGCACATGGG CGAGAG	RNH1	ENSG00000023191.17	transcript	ENST00000354420.7	protein_coding	9/10			chr11	TogoVar
RNPC3_chr1_103520699_103560239	103525497	G G	GCCGCCGT others(27): Show GCCGCCGTGCGCCCCGCCCCGCCGTGCGCCCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(60): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01358.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp2 HG02004.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp2 HG02523.hp1 HG02572.hp1 HG02735.hp1 HG02735.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG04228.hp2 NA18946.hp1 NA18952.hp2 NA18953.hp2 NA18962.hp2 NA18973.hp1 NA19006.hp1 NA19011.hp2 NA19030.hp2 NA19055.hp2 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19075.hp2 NA19077.hp1 NA19080.hp1 NA19091.hp1 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(45): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0024 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0063 a0001c0001t0002g0154 a0001c0001t0002g0161 a0001c0001t0002g0165 a0001c0001t0006g0158 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0028 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0035 a0001c0002t0001g0054 a0001c0002t0001g0059 a0001c0002t0001g0066 a0001c0002t0001g0071 a0001c0002t0001g0084 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0003g0082	63	370	0.1703	34	c.-57 others(43): Show c.-574_-573insCCGCCGTGCGCCCCGCCCCGCCGTGCGCCCCGCC	RNPC3	ENSG00000185946.16	transcript	ENST00000423855.7	protein_coding		201		chr1	TogoVar
RNPC3_chr1_103520699_103560239	103525580	G G	GCCCCGCC others(27): Show GCCCCGCCGTGCGCCCCGCCCCGCCGTGCGCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	370	0.0027	34	c.-49 others(43): Show c.-491_-490insCCCCGCCGTGCGCCCCGCCCCGCCGTGCGCCCCT	RNPC3	ENSG00000185946.16	transcript	ENST00000423855.7	protein_coding		118		chr1	TogoVar
RNPC3_chr1_103520699_103560239	103556561	A A	ATATAATA others(27): Show ATATAATAGTACTAAGTATAGTATACTAAGTATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	370	0.0027	34	c.15 others(45): Show c.1540_*1541insTATAATAGTACTAAGTATAGTATACTAAGTATAG	RNPC3	ENSG00000185946.16	transcript	ENST00000423855.7	protein_coding		1323		chr1	TogoVar
ROBO1_chr3_78592239_79772998	79496387	C C	CATTTTTT others(27): Show CATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02922.hp1 HG03471.hp2 HG02109.hp2 HG02922.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0011 a0001c0001 a0001c0008 a0001c0011	a0001c0001t0002 a0001c0008t0003 a0001c0011t0001 a0001c0001t0002 a0001c0008t0003 a0001c0011t0001	a0001c0001t0002g0039 a0001c0008t0003g0037 a0001c0011t0001g0038 a0001c0001t0002g0039 a0001c0008t0003g0037 a0001c0011t0001g0038	3	44	0.0682	34	c.88+ others(51): Show c.88+93436_88+93437insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar

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