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
RIC3_chr11_8101056_8174025	8124105	G G	GAAAAAGA others(37): Show GAAAAAGAAAAAGAAAAAGCAAGCAAGCAAGCAAGCAAGCAAACA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01261.hp2 HG01346.hp2 others(5): Show HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01943.hp2 HG01981.hp1 HG02004.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0022 a0001c0001t0008g0023 a0001c0001t0008g0024 others(5): Show a0001c0001t0008g0022 a0001c0001t0008g0023 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0008g0026 a0001c0001t0008g0027 a0001c0001t0008g0028 a0001c0001t0008g0029	8	370	0.0216	44	c.670 others(61): Show c.670+2553_670+2554insTGTTTGCTTGCTTGCTTGCTTGCTTGCT TTTTCTTTTTCTTTTT	RIC3	ENSG00000166405.16	transcript	ENST00000309737.11	protein_coding	5/5			chr11	TogoVar
RICTOR_chr5_38932920_39079399	39075284	T T	TACACACA others(37): Show TACACACACACACACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	338	0.0030	44	c.-90 others(53): Show c.-908_-907insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding		886		chr5	TogoVar
RIMBP2_chr12_130391133_130721299	130713215	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	180	0.0056	44	c.-35 others(63): Show c.-352+3006_-352+3007insATCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130713219	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02165.hp2 HG02735.hp2 others(1): Show HG01109.hp1 HG02165.hp2 HG02735.hp2 NA19064.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0011 a0002c0016 others(1): Show a0001c0001 a0001c0011 a0002c0016 a0009c0052	a0001c0001t0002 a0001c0011t0001 a0002c0016t0001 others(1): Show a0001c0001t0002 a0001c0011t0001 a0002c0016t0001 a0009c0052t0001	a0001c0001t0002g0126 a0001c0011t0001g0125 a0002c0016t0001g0124 others(1): Show a0001c0001t0002g0126 a0001c0011t0001g0125 a0002c0016t0001g0124 a0009c0052t0001g0123	4	180	0.0222	44	c.-35 others(63): Show c.-352+3002_-352+3003insATCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMS1_chr6_71881550_72408145	72092291	C C	CCCTCCCT others(37): Show CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0111 a0001c0003t0002g0111	1	140	0.0071	44	c.246 others(61): Show c.246-4655_246-4654insCCCTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCT	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIMS2_chr8_103495610_104259430	103587409	G G	GAAGAAAG others(37): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0086 a0002c0002t0002g0086	1	172	0.0058	44	c.177 others(63): Show c.177-64777_177-64734dupGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAA	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIMS2_chr8_103495610_104259430	103813389	C C	CTTCTTTC others(37): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0147 a0003c0006t0003g0147	1	172	0.0058	44	c.830 others(63): Show c.830+46878_830+46879insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIOK2_chr5_97155867_97188247	97180142	G G	GTATGTAT others(37): Show GTATGTATATATATATATATATATATATATGTATGTGTATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	410	0.0024	44	c.67- others(57): Show c.67-950_67-949insTATATATACACATACATATATATATATATATA TATATATACATA	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIPK2_chr8_89752816_89796064	89753750	A A	ATTAATAT others(37): Show ATTAATATATAAATATATTATATATTTATATATTATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01074.hp2 HG01168.hp2 others(5): Show HG01071.hp2 HG01074.hp2 HG01168.hp2 HG01169.hp1 HG02004.hp1 HG03239.hp2 HG03927.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0051 a0001c0001t0001g0002 a0001c0001t0001g0051	8	380	0.0211	44	c.-43 others(55): Show c.-4311_-4310insTTAATATATAAATATATTATATATTTATATATTA TATATATATT	RIPK2	ENSG00000104312.8	transcript	ENST00000220751.5	protein_coding		4065		chr8	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTCTTC others(37): Show ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02809.hp2 HG02622.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0098 a0001c0002t0004g0100 a0001c0002t0004g0098 a0001c0002t0004g0100	2	448	0.0045	44	c.48 others(55): Show c.4815_*4816insAAGAAGAAGAAGAAAAGAAGAAGAAGAAGAAGAA GAAGAAGAAG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3350		chr21	TogoVar
RMND5A_chr2_86715291_86783041	86737574	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0098 a0001c0001t0040g0098	1	304	0.0033	44	c.143 others(61): Show c.143-3333_143-3332insATATATATATATATATATATATATATAT ATATATATATATATAT	RMND5A	ENSG00000153561.13	transcript	ENST00000283632.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNF11_chr1_51231273_51278447	51234283	T T	TTCTTTTT others(37): Show TTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTTTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0050 a0001c0001t0020g0050	1	274	0.0037	44	c.-24 others(55): Show c.-2474_-2473insTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTTTT TCTTTCTTTC	RNF11	ENSG00000123091.5	transcript	ENST00000242719.4	protein_coding		1989		chr1	TogoVar
RNF141_chr11_10506673_10546187	10539691	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01975.hp2 HG02273.hp1 others(7): Show HG00639.hp2 HG01975.hp2 HG02273.hp1 HG02896.hp2 HG02897.hp2 HG03654.hp1 HG04199.hp1 NA19054.hp1 NA19078.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012	a0001c0001t0002g0033 a0001c0001t0002g0212 a0001c0001t0002g0214 others(5): Show a0001c0001t0002g0033 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0004g0032 a0001c0001t0004g0213 a0001c0001t0012g0217	10	374	0.0267	44	c.-48 others(61): Show c.-48+1430_-48+1431insATATATATATATATATATATATATATAT ATATATATATATATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF144B_chr6_18382350_18473870	18387049	T T	TTGAGAGC others(37): Show TTGAGAGCTGACGAGCTGCTCTGATACAGACAGGGGACGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	386	0.0026	44	c.-61 others(53): Show c.-618_-617insTGAGAGCTGACGAGCTGCTCTGATACAGACAGGGGA CGGGGCGG	RNF144B	ENSG00000137393.10	transcript	ENST00000259939.4	protein_coding		300		chr6	TogoVar
RNF148_chr7_122696668_122707922	122705957	T T	TATTATAT others(37): Show TATTATATAATATAATATATATTATATTATATAATATAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG01257.hp2 others(17): Show HG00544.hp1 HG00609.hp2 HG01257.hp2 HG01261.hp1 HG01884.hp2 HG02523.hp1 HG03704.hp1 NA18612.hp1 NA18953.hp2 NA18975.hp2 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA19003.hp1 NA19060.hp2 NA19070.hp1 NA19083.hp1 NA19090.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0015 a0001c0001 a0004c0015	a0001c0001t0001 a0004c0015t0001 a0001c0001t0001 a0004c0015t0001	a0001c0001t0001g0000 a0004c0015t0001g0000 a0001c0001t0001g0000 a0004c0015t0001g0000	20	432	0.0463	44	c.-32 others(55): Show c.-3208_-3207insTATATATTATATTATATAATATAATATATATTAT ATTATATAAT	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		3036		chr7	TogoVar
RNF148_chr7_122696668_122707922	122705957	T T	TATTATAT others(37): Show TATTATATAATATAATATATTATATATTATATAATATAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0000 a0001c0011t0001g0000	1	432	0.0023	44	c.-32 others(55): Show c.-3208_-3207insTATATATTATATTATATAATATATAATATATTAT ATTATATAAT	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		3036		chr7	TogoVar
RNF148_chr7_122696668_122707922	122705958	A A	ATTATATA others(37): Show ATTATATAATATAATATATATTATATTATATAATATAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 NA18980.hp1 HG04204.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	432	0.0046	44	c.-32 others(55): Show c.-3209_-3208insATATATATTATATTATATAATATAATATATATTA TATTATATAA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		3037		chr7	TogoVar
RNF17_chr13_24759169_24884921	24881980	C C	CTATATAG others(37): Show CTATATAGATATATAGATACATCTATATATATAGATACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0141 a0004c0004t0002g0141	1	426	0.0024	44	c.22 others(55): Show c.2254_*2255insTATATAGATATATAGATACATCTATATATATAGA TACATCTATA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2060		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882133	G G	GATACATC others(37): Show GATACATCTATATAGATAGATATATAGATACATCTATATAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0155 a0003c0006t0001g0155	1	426	0.0024	44	c.24 others(55): Show c.2407_*2408insATACATCTATATAGATAGATATATAGATACATCT ATATAGATAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2213		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882133	G G	GATATATA others(37): Show GATATATAGATACATCTATATATATAGATACATCTATATAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	426	0.0024	44	c.24 others(55): Show c.2407_*2408insATATATAGATACATCTATATATATAGATACATCT ATATAGATAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2213		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882151	G G	GATACATC others(37): Show GATACATCTATATAGATATATAGATACATCTATATAGATAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01978.hp2 HG02080.hp2 others(12): Show HG00609.hp1 HG01978.hp2 HG02080.hp2 HG02129.hp1 HG02451.hp2 HG02486.hp1 HG02602.hp2 NA18941.hp1 NA18951.hp1 NA18957.hp1 NA18974.hp1 NA18987.hp2 NA18989.hp2 NA19083.hp1 NA20752.hp2	a0002 a0004 a0009 others(1): Show a0002 a0004 a0009 a0012	a0002c0003 a0004c0004 a0009c0014 others(1): Show a0002c0003 a0004c0004 a0009c0014 a0012c0017	a0002c0003t0002 a0004c0004t0002 a0009c0014t0002 others(1): Show a0002c0003t0002 a0004c0004t0002 a0009c0014t0002 a0012c0017t0002	a0002c0003t0002g0336 a0002c0003t0002g0337 a0002c0003t0002g0371 others(12): Show a0002c0003t0002g0336 a0002c0003t0002g0337 a0002c0003t0002g0371 a0002c0003t0002g0373 a0004c0004t0002g0128 a0004c0004t0002g0129 a0004c0004t0002g0132 a0004c0004t0002g0133 a0004c0004t0002g0135 a0004c0004t0002g0167 a0009c0014t0002g0338 a0009c0014t0002g0360 a0009c0014t0002g0363 a0012c0017t0002g0301 a0012c0017t0002g0302	15	426	0.0352	44	c.24 others(55): Show c.2425_*2426insATACATCTATATAGATATATAGATACATCTATAT AGATAGATAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2231		chr13	TogoVar
RNF19A_chr8_100252067_100314953	100256511	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0202 a0001c0004t0001g0202	1	350	0.0029	44	c.20 others(55): Show c.2044_*2045insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	RNF19A	ENSG00000034677.13	transcript	ENST00000341084.7	protein_coding		555		chr8	TogoVar
RNF2_chr1_185040558_185107603	185082345	C C	CTTTTTTT others(37): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0198 a0001c0001t0015g0198	1	350	0.0029	44	c.-2- others(59): Show c.-2-5185_-2-5184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNGTT_chr6_88604897_88968618	88929910	A A	ATATATAC others(37): Show ATATATACACGTATATACATATGTATACATATGCATATACACACG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	220	0.0046	44	c.175 others(59): Show c.175-687_175-644dupCGTGTGTATATGCATATGTATACATATGTA TATACGTGTATATA	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	2/15			chr6	TogoVar
ROBO1_chr3_78592239_79772998	79496387	C C	CATTTTTT others(37): Show CATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0003 a0001c0007t0003g0003	1	44	0.0227	44	c.88+ others(61): Show c.88+93436_88+93437insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79550195	G G	GAAAGAAA others(37): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	44	0.0227	44	c.88+ others(61): Show c.88+39628_88+39629insTTTCCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO2_chr3_77035099_77654964	77108165	C C	CATATGTA others(37): Show CATATGTATACACATATGCATATATATGTATACACATATGCATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02895.hp1 HG03098.hp2 others(2): Show HG02055.hp1 HG02895.hp1 HG03098.hp2 HG03139.hp2 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0007 a0001c0003t0019 a0001c0005t0012 a0001c0003t0007 a0001c0003t0019 a0001c0005t0012	a0001c0003t0007g0113 a0001c0003t0007g0115 a0001c0003t0007g0117 others(2): Show a0001c0003t0007g0113 a0001c0003t0007g0115 a0001c0003t0007g0117 a0001c0003t0019g0111 a0001c0005t0012g0114	5	160	0.0313	44	c.388 others(61): Show c.388+9830_388+9873dupGTATACACATATGCATATATATGTATAC ACATATGCATATATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK1_chr18_20941906_21116813	20958948	A A	ATATATTT others(37): Show ATATATTTTATATAATATATATAATATATATATTTTATAAAAAAT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18959.hp1 NA18968.hp2 others(3): Show NA18957.hp2 NA18959.hp1 NA18968.hp2 NA19011.hp1 NA19065.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0001g0161 others(3): Show a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0005g0131	6	212	0.0283	44	c.351 others(61): Show c.3512+891_3512+892insATTTTTTATAAAATATATATATTATATA TATTATATAAAATATA	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32			chr18	TogoVar
ROCK2_chr2_11174759_11349636	11229868	G G	GAACCTAG others(37): Show GAACCTAGTATATAAGTATACTAGTAAATATATACTAGTAAGTAT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0014 a0002c0002t0003g0014	1	320	0.0031	44	c.724 others(61): Show c.724-2471_724-2470insATACTTACTAGTATATATTTACTAGTAT ACTTATATACTAGGTT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	5/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGGGAGAG others(37): Show GGGGAGAGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02886.hp2 HG01257.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0274 a0001c0001t0008g0190 a0001c0001t0007g0274 a0001c0001t0008g0190	2	320	0.0063	44	c.142 others(61): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCCCCCTCTCCC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROR1_chr1_63769017_64186498	64014713	C C	CTATATAT others(37): Show CTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0049 a0001c0002t0005g0049	1	96	0.0104	44	c.163 others(61): Show c.163+5351_163+5352insTATATATATATATATATATATATATATA TATATATATATATATA	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
RORA_chr15_60483284_61234302	61053848	G G	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01169.hp2 HG02738.hp2 others(2): Show HG01109.hp2 HG01169.hp2 HG02738.hp2 HG02976.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0021	a0001c0001t0001g0104 a0001c0001t0002g0045 a0001c0001t0002g0068 others(2): Show a0001c0001t0001g0104 a0001c0001t0002g0045 a0001c0001t0002g0068 a0001c0001t0011g0021 a0001c0002t0021g0018	5	118	0.0424	44	c.166 others(65): Show c.166+175204_166+175205insATATATATATATATATATATATAT ATATATATATATATATATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RP2_chrX_46832043_46887358	46847822	G G	GTATATGT others(37): Show GTATATGTGTATATATGTGTGTATATATGTGTATATATGTGTGTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02630.hp1 HG02257.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0134 a0001c0001t0002g0135	2	274	0.0073	44	c.103 others(61): Show c.103-5611_103-5610insATATATGTGTATATATGTGTGTATATAT GTGTATATATGTGTGT	RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RPA4_chrX_96878908_96890467	96888571	A A	ATATATAT others(37): Show ATATATATATCTATATATATCTATATATATACAGATATATATATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0000 a0002c0002t0007g0000	1	319	0.0031	44	c.34 others(55): Show c.3475_*3476insTATATATATCTATATATATCTATATATATACAGA TATATATATC	RPA4	ENSG00000204086.4	transcript	ENST00000373040.4	protein_coding		3105		chrX	TogoVar
RPAP2_chr1_92294059_92407056	92305432	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0089 a0001c0011t0003g0089	1	192	0.0052	44	c.399 others(61): Show c.399+1102_399+1103insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	RPAP2	ENSG00000122484.9	transcript	ENST00000610020.2	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GGAGAGAG others(37): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00621.hp1 HG01255.hp2 HG01934.hp1 others(4): Show HG00621.hp1 HG01255.hp2 HG01934.hp1 HG02572.hp1 HG02615.hp1 NA19007.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0012 a0001c0001t0176 a0001c0002t0012 others(2): Show a0001c0001t0012 a0001c0001t0176 a0001c0002t0012 a0001c0003t0043 a0002c0004t0177	a0001c0001t0012g0138 a0001c0001t0176g0176 a0001c0002t0012g0155 others(4): Show a0001c0001t0012g0138 a0001c0001t0176g0176 a0001c0002t0012g0155 a0001c0002t0012g0192 a0001c0003t0043g0088 a0001c0003t0043g0186 a0002c0004t0177g0121	7	266	0.0263	44	c.-24 others(53): Show c.-247_-246insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36413	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GGAGAGAG others(37): Show GGAGAGAGATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0195 a0003c0005t0195	a0003c0005t0195g0253 a0003c0005t0195g0253	1	266	0.0038	44	c.-27 others(53): Show c.-277_-276insTAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36443	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPL23_chr17_38842860_38858721	38842871	G G	GTCTGTCT others(37): Show GTCTGTCTGTCTGTCTATCTATCTATCTATCTATCTATCTATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 NA19086.hp1 HG02071.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0005g0005 a0001c0001t0001g0001 a0001c0001t0005g0005	2	418	0.0048	44	c.72 others(55): Show c.7260_*7261insTAGATAGATAGATAGATAGATAGATAGATAGACA GACAGACAGA	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		4988		chr17	TogoVar
RPL30_chr8_98036721_98050545	98037386	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	448	0.0022	44	c.44 others(55): Show c.4414_*4415insTATATATATATATATATATATATATATATACACA CACACACACA	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4334		chr8	TogoVar
RPL30_chr8_98036721_98050545	98037386	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	448	0.0022	44	c.44 others(55): Show c.4414_*4415insTATATATATATATATATATATACACACACACACA CACACACACA	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4334		chr8	TogoVar
RPL36_chr19_5685295_5696875	5694638	C C	CGGGCGCG others(37): Show CGGGCGCGGGGTGGTGGGGTGATGGGCGCGGGGTGGTGGGGTGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG03486.hp2 HG03831.hp1 HG02738.hp2 HG03486.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	394	0.0076	44	c.30 others(55): Show c.3017_*3018insGGGCGCGGGGTGGTGGGGTGATGGGCGCGGGGTG GTGGGGTGAT	RPL36	ENSG00000130255.13	transcript	ENST00000347512.8	protein_coding		2764		chr19	TogoVar
RPL38_chr17_74198678_74215655	74199262	G G	GAGAGAGA others(37): Show GAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	446	0.0022	44	c.-45 others(55): Show c.-4522_-4521insAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAA	RPL38	ENSG00000172809.13	transcript	ENST00000311111.11	protein_coding		4415		chr17	TogoVar
RPL38_chr17_74198678_74215655	74199262	G G	GAGAGAGA others(37): Show GAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 NA18965.hp2 HG00544.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0002 a0001c0001t0004g0002 a0001c0001t0002g0002 a0001c0001t0004g0002	2	446	0.0045	44	c.-45 others(55): Show c.-4522_-4521insAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAG AAAGAAAGAA	RPL38	ENSG00000172809.13	transcript	ENST00000311111.11	protein_coding		4415		chr17	TogoVar
RPL5_chr1_92827040_92846924	92846819	A A	ATATATAT others(37): Show ATATATATGTGTGTATATATATATATATATATATACACACACACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	331	0.0030	44	c.49 others(55): Show c.4954_*4955insTATATATGTGTGTATATATATATATATATATATA CACACACACG	RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding		4896		chr1	TogoVar
RPL5_chr1_92827040_92846924	92846848	T T	TACACACA others(37): Show TACACACACACGTATATATATATATACACGTATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18979.hp2 NA18962.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	331	0.0060	44	c.49 others(55): Show c.4983_*4984insACACACACACGTATATATATATATACACGTATAT ATATATATAC	RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding		4925		chr1	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTAT others(37): Show GTGTGTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA19062.hp1 NA19064.hp1 HG04115.hp2 NA19062.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0228 a0001c0001t0004g0211 a0001c0001t0004g0245 a0001c0001t0001g0228 a0001c0001t0004g0211 a0001c0001t0004g0245	3	318	0.0094	44	c.790 others(63): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATATATATACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTAT others(37): Show GTGTGTATATGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01496.hp2 HG02165.hp2 others(3): Show HG01099.hp1 HG01496.hp2 HG02165.hp2 NA18986.hp1 NA18989.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0109 a0001c0001t0001g0115 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118	6	318	0.0189	44	c.790 others(63): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATACATATACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(37): Show GTGTGTGTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA19086.hp1 NA18955.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0213 a0001c0001t0004g0249 a0001c0001t0001g0213 a0001c0001t0004g0249	2	318	0.0063	44	c.790 others(63): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATATATACACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	318	0.0031	44	c.790 others(63): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATACACACACACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPS6KA3_chrX_20144911_20271909	20268816	T T	TAAAAAAA others(37): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0147 a0001c0001t0029g0147	1	212	0.0047	44	c.-21 others(55): Show c.-2185_-2184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	RPS6KA3	ENSG00000177189.14	transcript	ENST00000379565.9	protein_coding		1908		chrX	TogoVar

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