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
RCHY1_chr4_75474033_75519403	75487892	C C	CATAATAT others(37): Show CATAATATATATTCATAATATATATATTCATAATATATATTCATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG00673.hp1 others(58): Show HG00438.hp2 HG00609.hp2 HG00673.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01433.hp2 HG02056.hp2 HG02135.hp2 HG02165.hp2 HG02257.hp1 HG02451.hp2 HG02630.hp2 HG03225.hp2 HG03471.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18947.hp2 NA18949.hp1 NA18954.hp1 NA18955.hp2 NA18961.hp2 NA18962.hp1 NA18965.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18987.hp2 NA18989.hp2 NA18994.hp2 NA18995.hp1 NA19000.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19075.hp2 NA19080.hp1 NA19083.hp2 NA19085.hp1 NA19088.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0016 a0001c0001t0028	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(27): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0283 a0001c0001t0013g0153 a0001c0001t0016g0035 a0001c0001t0028g0159	61	406	0.1503	44	c.657 others(61): Show c.657+2688_657+2689insTATGAATATATATTATGAATATATATAT TATGAATATATATTAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
REEP6_chr19_1486181_1502927	1497950	G G	GGCCCAGG others(37): Show GGCCCAGGGGAGGGGCTGCGAGGGCACCGTCCCATTTCATCAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	318	0.0031	44	c.73 others(53): Show c.739_*740insGCCCAGGGGAGGGGCTGCGAGGGCACCGTCCCATTT CATCAGGC	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		24		chr19	TogoVar
REPS2_chrX_16941658_17158272	17050121	T T	TCTTCCTT others(37): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	166	0.0060	44	c.908 others(61): Show c.908-2258_908-2257insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(37): Show CCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG04204.hp1 HG03704.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0113 a0001c0001t0002g0117	2	166	0.0121	44	c.908 others(61): Show c.908-2238_908-2237insCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RERE_chr1_8347404_8822640	8516227	G G	GGAAAAAA others(37): Show GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0130 a0001c0002t0005g0130	1	204	0.0049	44	c.831 others(61): Show c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERG_chr12_15102783_15226417	15161138	A A	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02280.hp2 NA18959.hp1 HG01167.hp2 HG02280.hp2 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0074 a0001c0001t0002g0048 a0001c0001t0002g0066 a0001c0001t0001g0074 a0001c0001t0002g0048 a0001c0001t0002g0066	3	300	0.0100	44	c.62- others(61): Show c.62-40063_62-40020dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
REST_chr4_56902900_56940844	56905326	A A	AAATAATA others(37): Show AAATAATATACATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	408	0.0025	44	c.-28 others(55): Show c.-2897_-2896insAATAATATACATATATATATATATATATATATAT ATATATATAT	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2573		chr4	TogoVar
REST_chr4_56902900_56940844	56905329	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	408	0.0025	44	c.-28 others(55): Show c.-2894_-2893insATATATATATATATATATATATATATATATATAT ATATATATAT	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2570		chr4	TogoVar
REST_chr4_56902900_56940844	56905347	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG00741.hp2 others(19): Show HG00621.hp1 HG00735.hp1 HG00741.hp2 HG01099.hp2 HG01175.hp2 HG01243.hp2 HG01943.hp1 HG02080.hp1 HG02897.hp1 HG03195.hp2 HG03225.hp1 HG03490.hp1 HG03710.hp2 HG04115.hp2 NA18939.hp1 NA18943.hp2 NA18964.hp1 NA18981.hp2 NA18998.hp2 NA19005.hp2 NA19043.hp1 NA19089.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0013	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0013c0014	a0001c0001t0002 a0001c0001t0004 a0001c0001t0039 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0039 a0002c0002t0001 a0002c0002t0007 a0003c0003t0002 a0013c0014t0001	a0001c0001t0002g0028 a0001c0001t0004g0077 a0001c0001t0004g0080 others(18): Show a0001c0001t0002g0028 a0001c0001t0004g0077 a0001c0001t0004g0080 a0001c0001t0004g0083 a0001c0001t0039g0016 a0002c0002t0001g0010 a0002c0002t0001g0023 a0002c0002t0001g0044 a0002c0002t0001g0214 a0002c0002t0001g0222 a0002c0002t0001g0259 a0002c0002t0007g0233 a0002c0002t0007g0270 a0002c0002t0007g0290 a0003c0003t0002g0001 a0003c0003t0002g0006 a0003c0003t0002g0026 a0003c0003t0002g0030 a0003c0003t0002g0032 a0003c0003t0002g0114 a0013c0014t0001g0232	22	408	0.0539	44	c.-28 others(55): Show c.-2876_-2875insATATATATATATATATATATATATATATATATAT ATATATATAA	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2552		chr4	TogoVar
REST_chr4_56902900_56940844	56905348	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 NA18972.hp1 NA18972.hp2 HG01884.hp1 NA18972.hp1 NA18972.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0002 a0004c0004t0005 a0004c0004t0009 a0003c0003t0002 a0004c0004t0005 a0004c0004t0009	a0003c0003t0002g0007 a0004c0004t0005g0040 a0004c0004t0009g0009 a0003c0003t0002g0007 a0004c0004t0005g0040 a0004c0004t0009g0009	3	408	0.0074	44	c.-28 others(55): Show c.-2875_-2874insTATATATATATATATATATATATATATATATATA TATATATATG	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2551		chr4	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(37): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	44	c.-23 others(55): Show c.-2310_-2309insGTATGTATACACATACATATGTATGCATACACAT ACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTCTTT others(37): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG03710.hp1 NA19012.hp2 HG01943.hp1 HG03710.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0005g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0005g0027	3	388	0.0077	44	c.207 others(59): Show c.207+489_207+490insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTCTCTCTCTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124320340	T T	TTAGGGGT others(37): Show TTAGGGGTAGGTGGGATGACCTCTTTGGGGGCAGGTGGGATGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01243.hp1 others(25): Show HG01070.hp1 HG01071.hp1 HG01243.hp1 HG02451.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp2 HG02738.hp1 HG02886.hp2 HG02976.hp1 HG03225.hp1 HG03225.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03831.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18946.hp1 NA18954.hp1 NA18960.hp1 NA18970.hp1 NA18985.hp1 NA19043.hp2 NA19054.hp2 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0010 a0001c0002t0017 others(2): Show a0001c0002t0007 a0001c0002t0010 a0001c0002t0017 a0001c0002t0019 a0001c0002t0022	a0001c0002t0007g0003 a0001c0002t0007g0011 a0001c0002t0007g0024 others(24): Show a0001c0002t0007g0003 a0001c0002t0007g0011 a0001c0002t0007g0024 a0001c0002t0007g0030 a0001c0002t0007g0077 a0001c0002t0007g0079 a0001c0002t0007g0083 a0001c0002t0007g0093 a0001c0002t0007g0094 a0001c0002t0007g0098 a0001c0002t0007g0370 a0001c0002t0007g0371 a0001c0002t0007g0372 a0001c0002t0007g0373 a0001c0002t0010g0143 a0001c0002t0010g0168 a0001c0002t0010g0169 a0001c0002t0010g0180 a0001c0002t0010g0368 a0001c0002t0017g0255 a0001c0002t0017g0258 a0001c0002t0017g0259 a0001c0002t0019g0017 a0001c0002t0019g0220 a0001c0002t0019g0225 a0001c0002t0022g0052 a0001c0002t0022g0070	28	388	0.0722	44	c.58 others(55): Show c.5815_*5816insTAGGGGTAGGTGGGATGACCTCTTTGGGGGCAGG TGGGATGACC	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding		4317		chr12	TogoVar
RFLNA_chr12_124290093_124321024	124320344	T T	TTAGGGGT others(37): Show TTAGGGGTAAGTGGGATGACCTCTTTAGGGGTAGGTGGGATGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG01255.hp1 others(31): Show HG00642.hp1 HG01074.hp1 HG01255.hp1 HG01934.hp2 HG01975.hp1 HG01981.hp2 HG02273.hp2 HG02300.hp1 HG02602.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp2 HG03491.hp2 HG03834.hp2 HG04204.hp2 NA18947.hp2 NA18950.hp2 NA18961.hp1 NA18968.hp1 NA18969.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18998.hp2 NA19007.hp2 NA19011.hp1 NA19057.hp1 NA19066.hp2 NA19082.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 others(7): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0024 a0001c0001t0028 a0001c0001t0032 a0001c0002t0002 a0001c0002t0004 a0001c0002t0010 a0001c0002t0027	a0001c0001t0006g0134 a0001c0001t0006g0144 a0001c0001t0006g0147 others(31): Show a0001c0001t0006g0134 a0001c0001t0006g0144 a0001c0001t0006g0147 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0161 a0001c0001t0006g0171 a0001c0001t0006g0175 a0001c0001t0006g0177 a0001c0001t0006g0194 a0001c0001t0006g0198 a0001c0001t0006g0200 a0001c0001t0006g0201 a0001c0001t0006g0202 a0001c0001t0012g0307 a0001c0001t0012g0355 a0001c0001t0012g0361 a0001c0001t0013g0100 a0001c0001t0013g0120 a0001c0001t0013g0122 a0001c0001t0024g0209 a0001c0001t0028g0176 a0001c0001t0032g0230 a0001c0002t0002g0124 a0001c0002t0004g0244 a0001c0002t0004g0263 a0001c0002t0004g0291 a0001c0002t0004g0374 a0001c0002t0004g0376 a0001c0002t0004g0377 a0001c0002t0004g0378 a0001c0002t0004g0379 a0001c0002t0010g0172 a0001c0002t0027g0271	34	388	0.0876	44	c.58 others(55): Show c.5819_*5820insTAGGGGTAAGTGGGATGACCTCTTTAGGGGTAGG TGGGATGACC	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding		4321		chr12	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATATA others(37): Show TATATATATATATATATATACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0260 a0001c0002t0002g0260	1	268	0.0037	44	c.333 others(61): Show c.333-5948_333-5947insGTGTGTGTGTGTGTGTGTGTGTGTGTAT ATATATATATATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATATA others(37): Show TATATATATATATATATATATATACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0082 a0002c0003t0004g0082	1	268	0.0037	44	c.333 others(61): Show c.333-5948_333-5947insGTGTGTGTGTGTGTGTGTGTGTATATAT ATATATATATATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFX3_chr9_3213297_3531001	3270081	G G	GGAAAGAA others(37): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0003 a0001c0001t0008g0003	1	196	0.0051	44	c.135 others(61): Show c.1357+246_1357+289dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	11/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504757	A A	ATATATAT others(37): Show ATATATATTATATGCTATATGGTATATATTGTATATAAAATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA19066.hp1 NA19068.hp2 others(1): Show HG02132.hp1 NA19066.hp1 NA19068.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0011 a0001c0002t0009 a0001c0001t0006 a0001c0001t0011 a0001c0002t0009	a0001c0001t0006g0007 a0001c0001t0006g0044 a0001c0001t0011g0041 others(1): Show a0001c0001t0006g0007 a0001c0001t0006g0044 a0001c0001t0011g0041 a0001c0002t0009g0010	4	196	0.0204	44	c.-9+ others(61): Show c.-9+20989_-9+20990insATATATTTTATATACAATATATACCATA TAGCATATAATATATA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX7_chr15_56082280_56248879	56141656	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp2 HG02559.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0012 a0001c0001t0007g0019 a0001c0001t0007g0012 a0001c0001t0007g0019	2	360	0.0056	44	c.401 others(61): Show c.401+1121_401+1122insATATATATATATATATATATATATATAT ATATATATATATATAT	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
RFX7_chr15_56082280_56248879	56141656	A A	ACTATATA others(37): Show ACTATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18968.hp2 NA19007.hp2 HG00140.hp2 NA18968.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0009 a0001c0002t0002 a0001c0002t0009	a0001c0002t0002g0092 a0001c0002t0009g0075 a0001c0002t0009g0132 a0001c0002t0002g0092 a0001c0002t0009g0075 a0001c0002t0009g0132	3	360	0.0083	44	c.401 others(61): Show c.401+1121_401+1122insATATATATATATATATATATATATATAT ATATATATATATATAG	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
RGL3_chr19_11389060_11424314	11414503	A A	ATATATAC others(37): Show ATATATACACCTTCATATATATATATATATATATATATATATACC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02895.hp1 HG03209.hp1 others(2): Show HG02451.hp1 HG02895.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0178 a0001c0003t0001g0233 a0001c0003t0001g0234 others(2): Show a0001c0003t0001g0178 a0001c0003t0001g0233 a0001c0003t0001g0234 a0001c0003t0001g0301 a0001c0003t0001g0305	5	402	0.0124	44	c.637 others(61): Show c.637+1433_637+1434insGGTATATATATATATATATATATATATA TATGAAGGTGTATATA	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGL3_chr19_11389060_11424314	11414504	T T	TATATATA others(37): Show TATATATACACCTTCATATATATATATATATATATATACACCTTC	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18955.hp2 NA18973.hp1 HG02056.hp1 NA18955.hp2 NA18973.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0008 a0001c0003 a0003c0008	a0001c0003t0001 a0003c0008t0001 a0001c0003t0001 a0003c0008t0001	a0001c0003t0001g0247 a0003c0008t0001g0225 a0003c0008t0001g0297 a0001c0003t0001g0247 a0003c0008t0001g0225 a0003c0008t0001g0297	3	402	0.0075	44	c.637 others(61): Show c.637+1432_637+1433insGAAGGTGTATATATATATATATATATAT ATGAAGGTGTATATAT	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGL3_chr19_11389060_11424314	11414505	A A	ATATATAT others(37): Show ATATATATACACCTTCATATATATATATATATATATATATATACC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	402	0.0025	44	c.637 others(61): Show c.637+1431_637+1432insGGTATATATATATATATATATATATATA TGAAGGTGTATATATA	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGN_chrX_47073443_47098313	47089530	T T	TTATATAT others(37): Show TTATATATACATATTATATATACTTATATATACATATTATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0239 a0001c0001t0013g0239	1	304	0.0033	44	c.347 others(59): Show c.347-246_347-245insTATATATACATATTATATATACTTATATAT ACATATTATATATA	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding	4/7			chrX	TogoVar
RGPD1_chr2_86937118_87018976	86942332	A A	ACGGCCTC others(37): Show ACGGCCTCGACCTGGCCGGGCGGCGGCCTCGACCTGGCCGGGCGG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	102	0.0098	44	c.72+ others(55): Show c.72+56_72+99dupCCTGGCCGGGCGGCGGCCTCGACCTGGCCGGGCG GCGGCCTCGA	RGPD1	ENSG00000187627.18	transcript	ENST00000641458.2	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD1_chr2_86937118_87018976	86942332	A A	ACGGCCTC others(37): Show ACGGCCTCGACCTGGCGGGGCGGCGGCCTCGACCTGGCGGGGCGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02083.hp2 HG02300.hp2 others(2): Show HG01069.hp2 HG02083.hp2 HG02300.hp2 HG03927.hp2 NA19057.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0002 a0005c0005t0002 a0001c0001t0002 a0005c0005t0002	a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 others(2): Show a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0005c0005t0002g0102	5	102	0.0490	44	c.72+ others(55): Show c.72+39_72+40insGGGGCGGCGGCCTCGACCTGGCGGGGCGGCGGCC TCGACCTGGC	RGPD1	ENSG00000187627.18	transcript	ENST00000641458.2	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD2_chr2_87750960_87830796	87825537	C C	CCGAGGCC others(37): Show CCGAGGCCGCCGCCCGGCCAGGTCGAGGCCGCCGCCCGGCCAGGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02257.hp1 others(3): Show HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02486.hp1 NA18612.hp1 NA18975.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 others(3): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0002c0003t0001g0017 a0002c0003t0001g0020	6	176	0.0341	44	c.72+ others(56): Show c.72+77_72+120dupACCTGGCCGGGCGGCGGCCTCGACCTGGCCGGG CGGCGGCCTCG	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGS16_chr1_182593623_182609389	182608332	T T	TCCCTAAT others(37): Show TCCCTAATTCCTCCTCCCTCCCCCCATCTGCAAGCAGAGTTGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	442	0.0023	44	c.-40 others(55): Show c.-4074_-4073insGGCCAACTCTGCTTGCAGATGGGGGGAGGGAGGA GGAATTAGGG	RGS16	ENSG00000143333.7	transcript	ENST00000367558.6	protein_coding		3944		chr1	TogoVar
RGS22_chr8_99955936_100111049	100060402	G G	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	310	0.0032	44	c.151 others(63): Show c.1514+2188_1514+2189insTATATATATATATATATATATATATA TATATATATATATATATA	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	9/27			chr8	TogoVar
RGS6_chr14_71927429_72571530	72053049	C C	CTCCCTTC others(37): Show CTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0112 a0001c0001t0008g0112	1	130	0.0077	44	c.84+ others(61): Show c.84+88179_84+88180insTCCCTCCCTTCCCTCCCTTCCCTCCCTC CCTCCCTCCCTTCCCT	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS7_chr1_240770514_241362205	240919467	A A	AAAAATCA others(37): Show AAAAATCATGCAATCATATCAATACATGCAGAGAAATCATTTGCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	112	0.0089	44	c.385 others(63): Show c.385+11206_385+11249dupGGCAAATGATTTCTCTGCATGTATTG ATATGATTGCATGATTTT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	6/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02965.hp1 NA19043.hp2 HG02258.hp2 HG02965.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0002g0099 a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0002g0099	3	112	0.0268	44	c.175 others(63): Show c.175+30427_175+30428insTATATATATATATATATATATATATA TACACACACACACACACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0112 a0001c0001t0010g0112	1	112	0.0089	44	c.175 others(63): Show c.175+30427_175+30428insTATATATATATATATATATATACACA CACACACACACACACACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241089063	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	112	0.0089	44	c.175 others(61): Show c.175+9602_175+9603insTATATATATATATATATATATATATATA TATAGAGAGAGAGAGA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241089063	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	112	0.0089	44	c.175 others(61): Show c.175+9602_175+9603insTATATATATATATATATATATATATATA TAGAGAGAGAGAGAGA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241089063	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	112	0.0089	44	c.175 others(61): Show c.175+9602_175+9603insTATATATATATATATATATATATATAGA GAGAGAGAGAGAGAGA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241327028	A A	AAGGGAGG others(37): Show AAGGGAGGGAGGGAGTGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03540.hp2 HG02809.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0073 a0001c0001t0002g0074	2	112	0.0179	44	c.78+ others(61): Show c.78+28670_78+28671insCCCTCCCTCCCTCCCTCCCTCCCTCCCT CACTCCCTCCCTCCCT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241327036	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA19043.hp2 HG02280.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0038 a0001c0001t0001g0039	2	112	0.0179	44	c.78+ others(61): Show c.78+28662_78+28663insCCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTTCCTTCCTTCCT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241327036	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA18992.hp2 HG01515.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0071 a0001c0001t0001g0024 a0001c0001t0001g0071	2	112	0.0179	44	c.78+ others(61): Show c.78+28662_78+28663insCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCTTCCTTCCT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241327036	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01515.hp1 HG02055.hp2 HG01071.hp1 HG01515.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0068 a0001c0001t0005g0093 a0001c0001t0005g0094 a0001c0001t0001g0068 a0001c0001t0005g0093 a0001c0001t0005g0094	3	112	0.0268	44	c.78+ others(61): Show c.78+28662_78+28663insCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCTTCCT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241327036	A A	AAGGAAGG others(37): Show AAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	112	0.0089	44	c.78+ others(61): Show c.78+28662_78+28663insCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241327036	A A	AAGGGAGG others(37): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02723.hp2 HG01433.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0111 a0001c0001t0001g0089 a0001c0001t0001g0111	2	112	0.0179	44	c.78+ others(61): Show c.78+28662_78+28663insCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RHBDF2_chr17_76465896_76506423	76474936	C C	CCAGATTG others(37): Show CCAGATTGTTGCGGTGGGAGGGATTAGGTACCCACGACACTGAGG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	364	0.0028	44	c.122 others(59): Show c.1227+50_1227+93dupCCTCAGTGTCGTGGGTACCTAATCCCTCCC ACCGCAACAATCTG	RHBDF2	ENSG00000129667.13	transcript	ENST00000675367.1	protein_coding	10/18			chr17	TogoVar
RHBDF2_chr17_76465896_76506423	76504664	T T	TTTTTTTT others(37): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	364	0.0028	44	c.-35 others(55): Show c.-3532_-3531insGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAA	RHBDF2	ENSG00000129667.13	transcript	ENST00000675367.1	protein_coding		3242		chr17	TogoVar
RHOBTB2_chr8_22994548_23025199	23022751	T T	TGGGGGGG others(37): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	358	0.0028	44	c.52 others(55): Show c.5282_*5283insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGG	RHOBTB2	ENSG00000008853.18	transcript	ENST00000251822.7	protein_coding		2553		chr8	TogoVar
RHOC_chr1_112696131_112712127	112706476	A A	ACACACAC others(37): Show ACACACACACACACACACCACACACACACACACACACCCCCACAC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	428	0.0023	44	c.-77 others(59): Show c.-77+601_-77+602insGTGTGGGGGTGTGTGTGTGTGTGTGTGGTG TGTGTGTGTGTGTG	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar
RHO_chr3_129523639_129540344	129538525	C C	CCCTCCCT others(37): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18956.hp2 NA18973.hp2 NA18952.hp1 NA18956.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0004	3	404	0.0074	44	c.48 others(55): Show c.4807_*4808insCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCC TTCCTTCCTT	RHO	ENSG00000163914.5	transcript	ENST00000296271.4	protein_coding		3182		chr3	TogoVar
RHPN2_chr19_32973592_33069888	32990137	T T	TAAAGAAA others(37): Show TAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0184 a0001c0014t0001g0184	1	326	0.0031	44	c.180 others(61): Show c.1800+376_1800+377insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	RHPN2	ENSG00000131941.8	transcript	ENST00000254260.8	protein_coding	14/14			chr19	TogoVar
RIBC1_chrX_53417873_53436115	53425515	T T	TAAAAAAA others(37): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	276	0.0036	44	c.1-7 others(55): Show c.1-736_1-735insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	RIBC1	ENSG00000158423.17	transcript	ENST00000375327.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
RIC1_chr9_5624107_5781557	5673535	G G	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	328	0.0031	44	c.253 others(63): Show c.253-16401_253-16400insTATATATATATATATATATATATATA TATATATATATATATATA	RIC1	ENSG00000107036.12	transcript	ENST00000414202.7	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar

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Search Results (Total: 4475 hits)