Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RBMS1_chr2_160267151_160498807	160311216	C C	CTATCTAT others(25): Show CTATCTATATATCTATATATCTATATATCTATA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA19089.hp1 NA18747.hp2 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0215 a0001c0002t0001g0217 a0001c0002t0001g0215 a0001c0002t0001g0217	2	328	0.0061	32	c.402 others(49): Show c.402+1939_402+1940insTATAGATATATAGATATATAGATATATA GATA	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	4/13			chr2	TogoVar
RBMS1_chr2_160267151_160498807	160311228	C C	CTATATAT others(25): Show CTATATATCTATATATCTATATATCTATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02055.hp2 HG02258.hp2 HG01943.hp1 HG02055.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0235 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0235 a0001c0002t0001g0273 a0001c0002t0001g0274	3	328	0.0092	32	c.402 others(49): Show c.402+1927_402+1928insTATATATAGATATATAGATATATAGATA TATA	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	4/13			chr2	TogoVar
RBMS1_chr2_160267151_160498807	160471691	G G	GTGTGTAT others(25): Show GTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0085 a0001c0002t0016g0085	1	328	0.0031	32	c.75+ others(49): Show c.75+21597_75+21598insTATATATATATATATATATATATATATA CACA	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS1_chr2_160267151_160498807	160471691	G G	GTGTGTAT others(25): Show GTGTGTATGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01433.hp1 HG02004.hp2 others(1): Show HG01361.hp2 HG01433.hp1 HG02004.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0081 a0001c0001t0004g0069 a0001c0001t0004g0080 others(1): Show a0001c0001t0002g0081 a0001c0001t0004g0069 a0001c0001t0004g0080 a0001c0001t0004g0082	4	328	0.0122	32	c.75+ others(49): Show c.75+21597_75+21598insTATATATATATATATATATATATACATA CACA	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS1_chr2_160267151_160498807	160471716	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02647.hp2 NA18968.hp2 HG00408.hp1 HG02647.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0170 a0001c0001t0002g0174 a0001c0001t0002g0165 a0001c0001t0002g0170 a0001c0001t0002g0174	3	328	0.0092	32	c.75+ others(49): Show c.75+21572_75+21573insTTATATATATATATATATATATATATAT ATAT	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS3_chr3_29276071_30015386	29779706	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG02451.hp1 HG00099.hp2 HG00140.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0001t0043 a0001c0003t0064 a0001c0001t0008 a0001c0001t0043 a0001c0003t0064	a0001c0001t0008g0079 a0001c0001t0043g0101 a0001c0003t0064g0072 a0001c0001t0008g0079 a0001c0001t0043g0101 a0001c0003t0064g0072	3	116	0.0259	32	c.637 others(51): Show c.637+16736_637+16737insTATATATATATATATATATATATATA TATATA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29865106	G G	GAGGAAGG others(25): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0023 a0001c0001t0058g0023	1	116	0.0086	32	c.638 others(49): Show c.638-3723_638-3722insGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29930109	C C	CTTTCTTT others(25): Show CTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 NA18982.hp2 HG01169.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0075 a0001c0002t0050 a0001c0001t0075 a0001c0002t0050	a0001c0001t0075g0060 a0001c0002t0050g0025 a0001c0001t0075g0060 a0001c0002t0050g0025	2	116	0.0172	32	c.940 others(49): Show c.940-5974_940-5973insCTTTCTTTTTTTTTTTTTTTTTTTTTTT TTTT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29962551	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0031 a0001c0001t0074g0031	1	116	0.0086	32	c.109 others(53): Show c.1098+18314_1098+18315insTATATATATATATATATATATATA TATATATA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBP2_chr3_139447884_139481516	139462558	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02818.hp1 HG02897.hp2 HG02280.hp1 HG02818.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0112	3	266	0.0113	32	c.74- others(45): Show c.74-300_74-269dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	RBP2	ENSG00000114113.6	transcript	ENST00000232217.6	protein_coding	1/3			chr3	TogoVar
RBPJL_chr20_45301840_45322824	45305805	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 NA18962.hp1 NA18966.hp1 others(1): Show HG03017.hp1 NA18962.hp1 NA18966.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0002t0001g0011 a0001c0001t0001g0002 a0001c0002t0001g0011	4	446	0.0090	32	c.-11 others(43): Show c.-1118_-1117insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RBPJL	ENSG00000124232.11	transcript	ENST00000343694.8	protein_coding		1034		chr20	TogoVar
RBPMS_chr8_30379541_30577256	30445649	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01433.hp1 HG02027.hp1 others(7): Show HG01123.hp1 HG01433.hp1 HG02027.hp1 HG02056.hp1 HG02258.hp1 HG02622.hp2 HG03669.hp1 HG03927.hp2 NA18747.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0153 a0001c0001t0001g0185 a0001c0001t0003g0072 a0001c0001t0004g0141	10	304	0.0329	32	c.67- others(49): Show c.67-29104_67-29103insATATATATATATATATATATATATATAT ATAT	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30518687	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0296 a0001c0001t0005g0296	1	304	0.0033	32	c.397 others(51): Show c.397+14279_397+14280insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30549793	T T	TCTCTCTC others(25): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA19054.hp2 NA18942.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0189 a0001c0001t0008g0120 a0001c0001t0007g0189 a0001c0001t0008g0120	2	304	0.0066	32	c.528 others(49): Show c.528+5172_528+5173insTCTCTCTCTCTCTCTCTCTCTCTCTCTC CCTC	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBX1_chr22_40946378_40978309	40961081	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	320	0.0031	32	c.158 others(49): Show c.158-2943_158-2942insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RBX1	ENSG00000100387.9	transcript	ENST00000216225.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
RC3H1_chr1_173926084_174027357	174017783	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0224 a0001c0001t0083g0224	1	310	0.0032	32	c.-15 others(51): Show c.-151+4312_-151+4313insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	1/19			chr1	TogoVar
RCAN2_chr6_46215736_46496449	46367022	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18971.hp1 HG01934.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0155 a0001c0001t0001g0087 a0001c0001t0001g0155	2	158	0.0127	32	c.225 others(51): Show c.225+89698_225+89729dupATATATATATATATATATATATATAT ATATAT	RCAN2	ENSG00000172348.16	transcript	ENST00000371374.6	protein_coding	2/4			chr6	TogoVar
RCBTB1_chr13_49526946_49590558	49564583	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG04115.hp1 HG02257.hp1 HG04115.hp1	a0002 a0002	a0002c0007 a0002c0013 a0002c0007 a0002c0013	a0002c0007t0006 a0002c0013t0004 a0002c0007t0006 a0002c0013t0004	a0002c0007t0006g0150 a0002c0013t0004g0256 a0002c0007t0006g0150 a0002c0013t0004g0256	2	418	0.0048	32	c.277 others(49): Show c.277+2034_277+2035insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RCBTB1	ENSG00000136144.12	transcript	ENST00000378302.7	protein_coding	4/12			chr13	TogoVar
RCBTB2_chr13_48483963_48538080	48493313	A A	ACTCTCTC others(25): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18948.hp2 NA18943.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0128 a0001c0001t0001g0114 a0001c0001t0001g0128	2	320	0.0063	32	c.151 others(51): Show c.1515+2877_1515+2878insAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAG	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	14/14			chr13	TogoVar
RCBTB2_chr13_48483963_48538080	48527329	A A	ATATATAT others(25): Show ATATATATGATATATATATATATGATATATATT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01928.hp2 HG01952.hp2 others(3): Show HG00642.hp2 HG01928.hp2 HG01952.hp2 HG02148.hp2 HG03942.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 others(3): Show a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145	6	320	0.0188	32	c.-21 others(51): Show c.-218-2604_-218-2573dupAATATATATCATATATATATATATCA TATATA	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14			chr13	TogoVar
RCBTB2_chr13_48483963_48538080	48527369	G G	GATATATA others(25): Show GATATATATATATGATATATATTTATATATGAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02109.hp2 HG02257.hp1 others(12): Show HG01074.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02615.hp1 HG02965.hp2 HG03041.hp1 HG03579.hp1 NA18906.hp2 NA18971.hp1 NA18977.hp1 NA18998.hp2 NA19068.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0023 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274	15	320	0.0469	32	c.-21 others(51): Show c.-218-2613_-218-2612insATCATATATAAATATATATCATATAT ATATAT	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14			chr13	TogoVar
RCBTB2_chr13_48483963_48538080	48537219	T T	TCTTCCTA others(25): Show TCTTCCTAGTTTATATTTTTGAGGACAACTAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	320	0.0031	32	c.-44 others(43): Show c.-4411_-4410insTTTAGTTGTCCTCAAAAATATAAACTAGGAAG	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding		4140		chr13	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0269 a0001c0003t0002g0269	1	294	0.0034	32	c.52 others(43): Show c.5232_*5233insAAAAAAAAAAAAAAAAAAAAATATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4251		chr1	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	294	0.0034	32	c.52 others(43): Show c.5232_*5233insAAAAATATATATATATATATATATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4251		chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01975.hp1 HG01123.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0154 a0001c0002t0002g0194 a0001c0002t0002g0154 a0001c0002t0002g0194	2	390	0.0051	32	c.286 others(49): Show c.286-2161_286-2160insATATATATATATATATATATATATATAT ATTT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCHY1_chr4_75474033_75519403	75487498	A A	AATATATA others(25): Show AATATATATATTCATAATATATATATTCATAAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	406	0.0025	32	c.657 others(49): Show c.657+3051_657+3082dupATTATGAATATATATATTATGAATATAT ATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCOR1_chr14_102587649_102735561	102706142	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0004	1	292	0.0034	32	c.499 others(49): Show c.499-1209_499-1208insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	4/11			chr14	TogoVar
RCSD1_chr1_167625232_167713696	167701252	G G	GTTTCTTT others(25): Show GTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0257 a0001c0001t0006g0257	1	350	0.0029	32	c.121 others(51): Show c.1219-3376_1219-3345dupCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RDX_chr11_110224441_110301614	110289956	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18971.hp2 HG02080.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0230 a0001c0001t0003g0248 a0001c0001t0003g0230 a0001c0001t0003g0248	2	376	0.0053	32	c.-65 others(49): Show c.-65+6510_-65+6511insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	1/13			chr11	TogoVar
RECK_chr9_36031913_36129455	36048126	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA19072.hp2 NA18989.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0316 a0001c0001t0001g0301 a0001c0001t0001g0316	2	392	0.0051	32	c.101 others(49): Show c.101-4136_101-4105dupATATATATATATATATATATATATATAT ATAT	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
REEP6_chr19_1486181_1502927	1493708	G G	GACACACA others(25): Show GACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	318	0.0031	32	c.116 others(49): Show c.116-1562_116-1561insACACACACACACACACACACACACACAC ACAC	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45011797	T T	TGTGTGTG others(25): Show TGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	382	0.0026	32	c.164 others(47): Show c.164-138_164-137insTGTGTGTGAGAGAGAGAGAGAGAGAGAGAG AG	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45017449	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	382	0.0026	32	c.505 others(49): Show c.505-4590_505-4589insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELL1_chr4_37605634_37691376	37605793	G G	GAGAGAGA others(25): Show GAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0147 a0001c0001t0034g0147	1	324	0.0031	32	c.75 others(43): Show c.7552_*7553insTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCT	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding		4840		chr4	TogoVar
RELN_chr7_103466789_103994658	103909746	T T	TATATATT others(25): Show TATATATTAAATATATATTTTTAATATATATAA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19091.hp2 NA19062.hp2 NA19091.hp2	a0001 a0001	a0001c0003 a0001c0037 a0001c0003 a0001c0037	a0001c0003t0001 a0001c0037t0001 a0001c0003t0001 a0001c0037t0001	a0001c0003t0001g0105 a0001c0037t0001g0078 a0001c0003t0001g0105 a0001c0037t0001g0078	2	184	0.0109	32	c.337 others(49): Show c.337+7328_337+7329insTTATATATATTAAAAATATATATTTAAT ATAT	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	2/64			chr7	TogoVar
REM1_chr20_31470288_31489895	31471049	G G	GGGGGCTG others(25): Show GGGGGCTGACCCCCCCACCTCCCTCCCGGACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01123.hp1 HG01257.hp2 others(8): Show HG00323.hp2 HG01123.hp1 HG01257.hp2 HG01346.hp2 HG01433.hp2 HG02523.hp1 HG03139.hp2 HG04199.hp2 HG04204.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0015 a0002c0002t0001g0042 others(3): Show a0002c0002t0001g0011 a0002c0002t0001g0015 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045	11	344	0.0320	32	c.-45 others(43): Show c.-4537_-4536insGGGGCTGACCCCCCCACCTCCCTCCCGGACGT	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		4238		chr20	TogoVar
REPS1_chr6_138898493_138993253	138947035	G G	GCTCTCTC others(25): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02280.hp2 HG01884.hp2 HG02257.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0301 a0001c0001t0001g0004 a0001c0001t0001g0301	3	390	0.0077	32	c.277 others(47): Show c.277+723_277+754dupAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AG	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	2/19			chr6	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(25): Show CCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	166	0.0060	32	c.908 others(49): Show c.908-2238_908-2237insCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0021 a0001c0001t0008g0021	1	166	0.0060	32	c.908 others(49): Show c.908-2216_908-2185dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RERE_chr1_8347404_8822640	8401069	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03831.hp1 HG03669.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0007t0001 a0001c0001t0003 a0001c0007t0001	a0001c0001t0003g0087 a0001c0007t0001g0008 a0001c0001t0003g0087 a0001c0007t0001g0008	2	204	0.0098	32	c.128 others(53): Show c.1284+21657_1284+21658insCATATATATATATATATATATATA TATATATA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8403825	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0006 a0006	a0006c0025 a0006c0025	a0006c0025t0007 a0006c0025t0007	a0006c0025t0007g0025 a0006c0025t0007g0025	1	204	0.0049	32	c.128 others(53): Show c.1284+18901_1284+18902insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8516227	G G	GGAAAAAA others(25): Show GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03225.hp2 HG03471.hp2 others(1): Show HG02818.hp2 HG03225.hp2 HG03471.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0005 a0001c0001t0006 a0001c0002t0005	a0001c0001t0006g0153 a0001c0001t0006g0154 a0001c0002t0005g0131 others(1): Show a0001c0001t0006g0153 a0001c0001t0006g0154 a0001c0002t0005g0131 a0001c0002t0005g0134	4	204	0.0196	32	c.831 others(49): Show c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8559280	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03831.hp1 HG00140.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0004 a0001c0007t0001 a0001c0003t0004 a0001c0007t0001	a0001c0003t0004g0017 a0001c0007t0001g0008 a0001c0003t0004g0017 a0001c0007t0001g0008	2	204	0.0098	32	c.523 others(49): Show c.523-1758_523-1757insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8607534	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0007 a0001c0010t0007	a0001c0010t0007g0026 a0001c0010t0007g0026	1	204	0.0049	32	c.522 others(49): Show c.522+7026_522+7027insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0010 a0010	a0010c0027 a0010c0027	a0010c0027t0003 a0010c0027t0003	a0010c0027t0003g0086 a0010c0027t0003g0086	1	204	0.0049	32	c.-14 others(53): Show c.-145+27858_-145+27859insATATATTTTTTTTTTTTTTTTTTT TTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	204	0.0049	32	c.-14 others(53): Show c.-145+27858_-145+27859insATATATATTTTTTTTTTTTTTTTT TTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0097 a0002c0006t0003g0097	1	204	0.0049	32	c.-14 others(53): Show c.-145+27858_-145+27859insATATATATATATTTTTTTTTTTTT TTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	204	0.0049	32	c.-14 others(53): Show c.-145+27858_-145+27859insATATATATATATATATTTTTTTTT TTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERG_chr12_15102783_15226417	15161138	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01934.hp1 HG02015.hp1 others(5): Show HG00423.hp1 HG01934.hp1 HG02015.hp1 HG02056.hp1 HG02080.hp2 HG02818.hp2 HG03710.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0152 a0001c0001t0001g0211 a0001c0001t0001g0241 others(5): Show a0001c0001t0001g0152 a0001c0001t0001g0211 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0277 a0001c0001t0003g0097 a0001c0002t0001g0126 a0001c0002t0001g0264	8	300	0.0267	32	c.62- others(49): Show c.62-40051_62-40020dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
REST_chr4_56902900_56940844	56905326	A A	AAATTATA others(25): Show AAATTATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0035 a0002c0018t0035	a0002c0018t0035g0097 a0002c0018t0035g0097	1	408	0.0025	32	c.-28 others(43): Show c.-2897_-2896insAATTATATATATATATATATATATATATATAT	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2573		chr4	TogoVar

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