Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RERE_chr1_8347404_8822640	8726147	C C	CTTTTCTT others(6): Show CTTTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02809.hp1 HG01175.hp2 HG02809.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0025 a0001c0002 a0007c0025	a0001c0002t0005 a0007c0025t0003 a0001c0002t0005 a0007c0025t0003	a0001c0002t0005g0130 a0007c0025t0003g0135 a0001c0002t0005g0130 a0007c0025t0003g0135	2	204	0.0098	13	c.-14 others(34): Show c.-144-69707_-144-69706insAAAAAAAAGAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789282	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0148 a0001c0002t0002g0148	1	204	0.0049	13	c.-14 others(34): Show c.-145+27865_-145+27877dupTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02602.hp1 HG02683.hp2 others(2): Show HG02080.hp2 HG02602.hp1 HG02683.hp2 HG03225.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0006 a0001c0002t0002 a0001c0003t0011 a0001c0001t0006 a0001c0002t0002 a0001c0003t0011	a0001c0001t0006g0153 a0001c0001t0006g0154 a0001c0002t0002g0149 others(2): Show a0001c0001t0006g0153 a0001c0001t0006g0154 a0001c0002t0002g0149 a0001c0002t0002g0180 a0001c0003t0011g0112	5	204	0.0245	13	c.-14 others(34): Show c.-145+27858_-145+27859insATTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(6): Show AAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0176 a0001c0002t0002g0176	1	204	0.0049	13	c.-14 others(34): Show c.-145+27858_-145+27859insATATTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERG_chr12_15102783_15226417	15110455	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	300	0.0033	13	c.192 others(28): Show c.192+888_192+889insAAAAAAAAAAAAA	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	4/4			chr12	TogoVar
RERG_chr12_15102783_15226417	15110463	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	300	0.0033	13	c.192 others(28): Show c.192+868_192+880dupAAAAAAAAAAAAA	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	4/4			chr12	TogoVar
RERG_chr12_15102783_15226417	15126156	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	300	0.0033	13	c.62- others(28): Show c.62-5038_62-5037insTATATATATATAT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RERG_chr12_15102783_15226417	15212042	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG01256.hp2 others(17): Show HG00323.hp1 HG00609.hp2 HG01256.hp2 HG01515.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02109.hp2 HG02132.hp1 HG03017.hp1 HG03704.hp1 NA18945.hp2 NA18947.hp1 NA18983.hp1 NA18986.hp2 NA18989.hp2 NA19004.hp2 NA19060.hp1 NA19082.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0008	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0002g0010 a0001c0001t0002g0031 a0001c0002t0001g0007 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0295 a0001c0002t0008g0025	20	300	0.0667	13	c.61+ others(28): Show c.61+5374_61+5386dupAAAAAAAAAAAAA	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RESF1_chr12_31954415_31998107	31956080	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0278 a0006c0006t0001g0278	1	452	0.0022	13	c.-37 others(24): Show c.-3753_-3752insTTTTTTTTTTTTT	RESF1	ENSG00000174718.12	transcript	ENST00000312561.9	protein_coding		3334		chr12	TogoVar
RESF1_chr12_31954415_31998107	31956083	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 NA19043.hp2 HG02258.hp1 NA19043.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0005 a0002c0010t0001 a0002c0010t0005	a0002c0010t0001g0360 a0002c0010t0005g0336 a0002c0010t0001g0360 a0002c0010t0005g0336	2	452	0.0044	13	c.-37 others(24): Show c.-3750_-3749insTTTTTTTTTTTTT	RESF1	ENSG00000174718.12	transcript	ENST00000312561.9	protein_coding		3331		chr12	TogoVar
RESF1_chr12_31954415_31998107	31956096	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00597.hp2 HG00733.hp1 others(27): Show HG00323.hp2 HG00597.hp2 HG00733.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01123.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01934.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02257.hp2 HG02258.hp2 HG02965.hp1 HG03516.hp1 HG03704.hp1 NA18747.hp2 NA18942.hp2 NA18949.hp1 NA18955.hp1 NA18968.hp2 NA19009.hp2 NA19055.hp1 NA19083.hp1 NA20300.hp1 NA21309.hp2	a0002 a0004 a0006 others(5): Show a0002 a0004 a0006 a0007 a0012 a0014 a0027 a0028	a0002c0003 a0004c0004 a0006c0006 others(6): Show a0002c0003 a0004c0004 a0006c0006 a0007c0007 a0007c0028 a0012c0013 a0014c0016 a0027c0037 a0028c0044	a0002c0003t0001 a0004c0004t0002 a0004c0004t0003 others(8): Show a0002c0003t0001 a0004c0004t0002 a0004c0004t0003 a0006c0006t0001 a0007c0007t0001 a0007c0007t0002 a0007c0028t0002 a0012c0013t0001 a0014c0016t0001 a0027c0037t0001 a0028c0044t0001	a0002c0003t0001g0001 a0002c0003t0001g0005 a0002c0003t0001g0264 others(21): Show a0002c0003t0001g0001 a0002c0003t0001g0005 a0002c0003t0001g0264 a0002c0003t0001g0265 a0002c0003t0001g0266 a0002c0003t0001g0276 a0004c0004t0002g0300 a0004c0004t0003g0253 a0004c0004t0003g0308 a0006c0006t0001g0236 a0007c0007t0001g0258 a0007c0007t0001g0259 a0007c0007t0002g0007 a0007c0007t0002g0035 a0007c0007t0002g0242 a0007c0007t0002g0243 a0007c0007t0002g0244 a0007c0028t0002g0284 a0012c0013t0001g0280 a0014c0016t0001g0129 a0014c0016t0001g0130 a0014c0016t0001g0222 a0027c0037t0001g0307 a0028c0044t0001g0155	30	452	0.0664	13	c.-37 others(24): Show c.-3737_-3736insTTTTTTTTTTTTG	RESF1	ENSG00000174718.12	transcript	ENST00000312561.9	protein_coding		3318		chr12	TogoVar
RETREG1_chr5_16468053_16621997	16527800	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp2 HG01175.hp1 others(23): Show HG00597.hp1 HG00673.hp2 HG01175.hp1 HG01258.hp2 HG01496.hp2 HG02083.hp2 HG02683.hp1 HG03491.hp1 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18950.hp2 NA18955.hp1 NA18965.hp2 NA18969.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA19002.hp1 NA19002.hp2 NA19067.hp2 NA19080.hp2 NA19086.hp1 NA19090.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0009 a0001c0001 a0001c0002 a0005c0009	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0004 a0001c0002t0013 a0005c0009t0002	a0001c0001t0001g0034 a0001c0001t0001g0064 a0001c0001t0001g0195 others(23): Show a0001c0001t0001g0034 a0001c0001t0001g0064 a0001c0001t0001g0195 a0001c0001t0001g0207 a0001c0001t0003g0093 a0001c0001t0003g0199 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0044 a0001c0002t0002g0049 a0001c0002t0002g0057 a0001c0002t0002g0138 a0001c0002t0002g0156 a0001c0002t0002g0176 a0001c0002t0002g0180 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0208 a0001c0002t0002g0211 a0001c0002t0004g0254 a0001c0002t0004g0261 a0001c0002t0004g0265 a0001c0002t0004g0266 a0001c0002t0004g0279 a0001c0002t0013g0148 a0005c0009t0002g0187	26	294	0.0884	13	c.458 others(32): Show c.458+37950_458+37962dupAAAAAAAAAAAAA	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	3/8			chr5	TogoVar
RETREG2_chr2_219173275_219190475	219186811	G G	GAAGAAAA others(6): Show GAAGAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0006 a0001c0002t0007g0006	1	430	0.0023	13	c.41 others(24): Show c.4182_*4183insAAGAAAAAAAAAA	RETREG2	ENSG00000144567.11	transcript	ENST00000430297.7	protein_coding		1337		chr2	TogoVar
REV1_chr2_99395477_99495017	99407080	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp2 HG01256.hp1 others(8): Show HG00733.hp2 HG00735.hp2 HG01256.hp1 HG01261.hp2 HG01934.hp2 HG03688.hp1 HG03710.hp1 NA18939.hp2 NA18954.hp1 NA18962.hp1 NA20752.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0001 a0003c0003t0003 a0005c0005t0001 a0003c0003t0001 a0003c0003t0003 a0005c0005t0001	a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0061 others(8): Show a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0061 a0003c0003t0001g0065 a0003c0003t0001g0077 a0003c0003t0001g0079 a0003c0003t0001g0088 a0003c0003t0001g0103 a0003c0003t0003g0089 a0003c0003t0003g0091 a0005c0005t0001g0078	11	324	0.0340	13	c.244 others(30): Show c.2449-603_2449-591dupAAAAAAAAAAAAA	REV1	ENSG00000135945.10	transcript	ENST00000258428.8	protein_coding	15/22			chr2	TogoVar
REV3L_chr6_111294033_111488218	111303701	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03834.hp2 NA18962.hp2 HG00639.hp1 HG03834.hp2 NA18962.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0019 a0002c0002 a0001c0001 a0001c0019 a0002c0002	a0001c0001t0001 a0001c0019t0001 a0002c0002t0001 a0001c0001t0001 a0001c0019t0001 a0002c0002t0001	a0001c0001t0001g0030 a0001c0019t0001g0034 a0002c0002t0001g0171 a0001c0001t0001g0030 a0001c0019t0001g0034 a0002c0002t0001g0171	3	288	0.0104	13	c.925 others(32): Show c.9253-3558_9253-3546dupAAAAAAAAAAAAA	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	31/31			chr6	TogoVar
REXO5_chr16_20801527_20854665	20820545	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	372	0.0027	13	c.476 others(30): Show c.476-1217_476-1216insATATATATATATA	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19			chr16	TogoVar
RFC1_chr4_39282456_39371362	39329127	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01175.hp1 HG01175.hp2 others(6): Show HG01074.hp2 HG01175.hp1 HG01175.hp2 HG02074.hp1 HG02630.hp2 HG02809.hp1 NA18944.hp1 NA19001.hp1 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0005 a0001c0002 a0001c0003 a0002c0005	a0001c0002t0002 a0001c0002t0009 a0001c0003t0001 others(1): Show a0001c0002t0002 a0001c0002t0009 a0001c0003t0001 a0002c0005t0001	a0001c0002t0002g0153 a0001c0002t0002g0159 a0001c0002t0002g0251 others(6): Show a0001c0002t0002g0153 a0001c0002t0002g0159 a0001c0002t0002g0251 a0001c0002t0009g0170 a0001c0003t0001g0077 a0001c0003t0001g0085 a0001c0003t0001g0086 a0002c0005t0001g0164 a0002c0005t0001g0165	9	276	0.0326	13	c.332 others(30): Show c.332-1384_332-1372dupTTTTTTTTTTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	4/24			chr4	TogoVar
RFC1_chr4_39282456_39371362	39337435	A A	AGATGCTA others(6): Show AGATGCTACTCAGT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0179 a0001c0002t0002g0179	1	276	0.0036	13	c.331 others(30): Show c.331+4909_331+4910insACTGAGTAGCATC	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	4/24			chr4	TogoVar
RFC1_chr4_39282456_39371362	39355096	A A	ATACACAC others(6): Show ATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	276	0.0036	13	c.4-3 others(26): Show c.4-3621_4-3620insGTGTGTGTGTGTA	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	1/24			chr4	TogoVar
RFC3_chr13_33813149_33842500	33834298	G G	GTATATTA others(6): Show GTATATTATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	416	0.0024	13	c.810 others(28): Show c.810-845_810-844insTATATATATATAT	RFC3	ENSG00000133119.13	transcript	ENST00000380071.8	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
RFC4_chr3_186784900_186811482	186807923	A A	ATGGGTGT others(6): Show ATGGGTGTGGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	432	0.0023	13	c.-16 others(24): Show c.-1646_-1645insCCACCCACACCCA	RFC4	ENSG00000163918.12	transcript	ENST00000296273.7	protein_coding		1442		chr3	TogoVar
RFK_chr9_76380526_76399426	76394584	G G	GGCTCCCG others(6): Show GGCTCCCGCCGCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0005	1	408	0.0025	13	c.-41 others(22): Show c.-414_-413insTTGCGGCGGGAGC	RFK	ENSG00000135002.12	transcript	ENST00000376736.6	protein_coding		159		chr9	TogoVar
RFLNA_chr12_124290093_124321024	124296147	T T	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0055 a0001c0001t0005g0055	1	388	0.0026	13	c.207 others(28): Show c.207+511_207+512insCTTTCTTTCTTTC	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2			chr12	TogoVar
RFLNA_chr12_124290093_124321024	124299810	C C	CTGAGCAG others(6): Show CTGAGCAGGACAGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01099.hp1 HG01243.hp1 others(47): Show HG00735.hp2 HG01099.hp1 HG01243.hp1 HG02040.hp1 HG02055.hp2 HG02109.hp1 HG02129.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02897.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03704.hp1 HG03942.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18951.hp2 NA18960.hp2 NA18994.hp2 NA18995.hp1 NA19000.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp2 NA20129.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0007c0008 a0008c0012	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(12): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0013 a0001c0001t0021 a0001c0002t0002 a0001c0002t0007 a0001c0002t0019 a0001c0002t0022 a0001c0002t0031 a0001c0003t0014 a0001c0004t0002 a0002c0005t0005 a0007c0008t0011 a0008c0012t0035	a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0005g0055 others(46): Show a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0005g0055 a0001c0001t0005g0057 a0001c0001t0005g0226 a0001c0001t0005g0247 a0001c0001t0011g0002 a0001c0001t0011g0049 a0001c0001t0011g0050 a0001c0001t0011g0056 a0001c0001t0011g0069 a0001c0001t0013g0122 a0001c0001t0021g0058 a0001c0001t0021g0059 a0001c0002t0002g0048 a0001c0002t0002g0062 a0001c0002t0002g0067 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0212 a0001c0002t0002g0229 a0001c0002t0002g0246 a0001c0002t0007g0030 a0001c0002t0007g0051 a0001c0002t0007g0370 a0001c0002t0019g0220 a0001c0002t0019g0225 a0001c0002t0022g0052 a0001c0002t0022g0070 a0001c0002t0031g0369 a0001c0003t0014g0068 a0001c0003t0014g0071 a0001c0003t0014g0137 a0001c0003t0014g0224 a0001c0003t0014g0245 a0001c0004t0002g0044 a0001c0004t0002g0045 a0001c0004t0002g0046 a0001c0004t0002g0047 a0001c0004t0002g0060 a0001c0004t0002g0066 a0001c0004t0002g0264 a0002c0005t0005g0053 a0002c0005t0005g0061 a0002c0005t0005g0063 a0002c0005t0005g0064 a0002c0005t0005g0065 a0007c0008t0011g0074 a0008c0012t0035g0138	50	388	0.1289	13	c.207 others(30): Show c.207+4176_207+4177insAGCAGGACAGATG	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124302840	A A	AGGGCCGA others(6): Show AGGGCCGAGGTCAG	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA18993.hp1 HG01515.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0366 a0001c0001t0001g0331 a0001c0001t0001g0366	2	388	0.0052	13	c.207 others(30): Show c.207+7234_207+7246dupCCGAGGTCAGGGG	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124305331	G G	GGGAGGCG others(6): Show GGGAGGCGGGTCCT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0011 a0007c0008t0011	a0007c0008t0011g0074 a0007c0008t0011g0074	1	388	0.0026	13	c.208 others(30): Show c.208-6486_208-6474dupGGAGGCGGGTCCT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124310172	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03195.hp2 NA18940.hp2 HG02615.hp1 HG03195.hp2 NA18940.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0031 a0001c0003t0014 a0001c0002t0002 a0001c0002t0031 a0001c0003t0014	a0001c0002t0002g0101 a0001c0002t0031g0369 a0001c0003t0014g0068 a0001c0002t0002g0101 a0001c0002t0031g0369 a0001c0003t0014g0068	3	388	0.0077	13	c.208 others(30): Show c.208-1634_208-1622dupAAAAAAAAAAAAA	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFNG_chr17_82042902_82056811	82043107	C C	CCCCCCCC others(6): Show CCCCCCCCCCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	462	0.0022	13	c.56 others(24): Show c.5618_*5619insTGGGGGGGGGGGG	RFNG	ENSG00000169733.12	transcript	ENST00000310496.9	protein_coding		4794		chr17	TogoVar
RFTN1_chr3_16310845_16518699	16313205	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02809.hp2 HG03041.hp1 others(6): Show HG01167.hp1 HG02809.hp2 HG03041.hp1 HG03139.hp2 HG03579.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0006 a0002c0003t0003 a0002c0003t0006	a0002c0003t0003g0097 a0002c0003t0003g0100 a0002c0003t0003g0101 others(6): Show a0002c0003t0003g0097 a0002c0003t0003g0100 a0002c0003t0003g0101 a0002c0003t0003g0166 a0002c0003t0003g0175 a0002c0003t0003g0262 a0002c0003t0006g0165 a0002c0003t0006g0167 a0002c0003t0006g0173	9	268	0.0336	13	c.36 others(24): Show c.3610_*3622dupAAAAAAAAAAAAA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding		2639		chr3	TogoVar
RFTN1_chr3_16310845_16518699	16387570	T T	TCTCTCTC others(6): Show TCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	268	0.0037	13	c.442 others(30): Show c.442-9469_442-9468insGAGAGAGAGAGAG	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16403819	T T	TATAATAT others(6): Show TATAATATATAATA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0261 a0001c0002t0002g0261	1	268	0.0037	13	c.441 others(30): Show c.441+5555_441+5556insTATTATATATTAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16404335	A A	ATATAATA others(6): Show ATATAATATATAAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02809.hp2 HG02818.hp2 others(8): Show HG02523.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03471.hp2 HG03579.hp2 NA18522.hp2 NA19010.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0002 a0002c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0002 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0006	a0001c0001t0001g0107 a0001c0002t0002g0124 a0001c0002t0002g0218 others(8): Show a0001c0001t0001g0107 a0001c0002t0002g0124 a0001c0002t0002g0218 a0001c0002t0002g0257 a0002c0003t0001g0109 a0002c0003t0003g0166 a0002c0003t0003g0175 a0002c0003t0004g0082 a0002c0003t0004g0104 a0002c0003t0004g0105 a0002c0003t0006g0167	11	268	0.0410	13	c.441 others(30): Show c.441+5039_441+5040insATTATATATTATA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16404343	T T	TAATATAT others(6): Show TAATATATATATAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03486.hp1 NA18612.hp2 HG03195.hp2 HG03486.hp1 NA18612.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0004 a0002c0003t0006 a0001c0001t0001 a0002c0003t0004 a0002c0003t0006	a0001c0001t0001g0044 a0002c0003t0004g0170 a0002c0003t0006g0169 a0001c0001t0001g0044 a0002c0003t0004g0170 a0002c0003t0006g0169	3	268	0.0112	13	c.441 others(30): Show c.441+5031_441+5032insGTATATATATATT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16437874	G G	GGCAGGTT others(6): Show GGCAGGTTTCATCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp1 HG00642.hp2 others(67): Show HG00423.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp2 HG01081.hp1 HG01099.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01928.hp1 HG01978.hp1 HG01981.hp2 HG02056.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02630.hp1 HG02647.hp2 HG02895.hp2 HG02897.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03225.hp2 HG03704.hp1 HG03834.hp2 NA18747.hp1 NA18747.hp2 NA18945.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18962.hp1 NA18964.hp1 NA18970.hp2 NA18974.hp2 NA18979.hp2 NA18984.hp2 NA18986.hp2 NA19007.hp2 NA19010.hp1 NA19030.hp2 NA19066.hp1 NA19070.hp1 NA19079.hp2 NA19084.hp2 NA19087.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0008 a0010	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0002c0003 a0003c0004 a0005c0012 a0008c0011 a0010c0015	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(12): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0005t0001 a0001c0009t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0006 a0003c0004t0001 a0005c0012t0002 a0008c0011t0001 a0010c0015t0001	a0001c0001t0001g0029 a0001c0001t0001g0046 a0001c0001t0001g0055 others(67): Show a0001c0001t0001g0029 a0001c0001t0001g0046 a0001c0001t0001g0055 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0098 a0001c0001t0001g0114 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0222 a0001c0001t0001g0252 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0002t0001g0113 a0001c0002t0002g0025 a0001c0002t0002g0050 a0001c0002t0002g0061 a0001c0002t0002g0064 a0001c0002t0002g0066 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0138 a0001c0002t0002g0148 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0164 a0001c0002t0002g0184 a0001c0002t0002g0198 a0001c0002t0005g0214 a0001c0002t0007g0051 a0001c0002t0007g0240 a0001c0002t0008g0152 a0001c0002t0008g0182 a0001c0005t0001g0159 a0001c0009t0001g0110 a0002c0003t0003g0007 a0002c0003t0003g0017 a0002c0003t0003g0043 a0002c0003t0003g0045 a0002c0003t0003g0047 a0002c0003t0003g0049 a0002c0003t0003g0100 a0002c0003t0003g0101 a0002c0003t0003g0139 a0002c0003t0003g0197 a0002c0003t0003g0262 a0002c0003t0004g0135 a0002c0003t0006g0165 a0002c0003t0006g0173 a0003c0004t0001g0008 a0005c0012t0002g0146 a0008c0011t0001g0151 a0010c0015t0001g0157	70	268	0.2612	13	c.146 others(30): Show c.146-3838_146-3837insAGATGAAACCTGC	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	2/9			chr3	TogoVar
RFTN2_chr2_197563224_197680587	197616274	A A	ATTTATTT others(6): Show ATTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02109.hp1 others(6): Show HG01069.hp2 HG01071.hp2 HG02109.hp1 HG02559.hp1 HG02622.hp1 HG02717.hp2 HG02970.hp2 HG03139.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0015 a0001c0001t0002 a0001c0001t0009 a0001c0001t0015	a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0143 others(6): Show a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0143 a0001c0001t0009g0051 a0001c0001t0009g0052 a0001c0001t0009g0053 a0001c0001t0009g0141 a0001c0001t0015g0047 a0001c0001t0015g0155	9	312	0.0289	13	c.105 others(30): Show c.1051-296_1051-295insAAAATAAAATAAA	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding	6/8			chr2	TogoVar
RFTN2_chr2_197563224_197680587	197616309	A A	ATTTATTT others(6): Show ATTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01069.hp2 HG01071.hp2 others(11): Show HG00639.hp1 HG01069.hp2 HG01071.hp2 HG01884.hp1 HG02109.hp1 HG02559.hp1 HG02622.hp1 HG02717.hp2 HG02809.hp1 HG02970.hp2 HG03139.hp2 HG03579.hp2 NA19240.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 a0001c0001t0023 a0003c0004t0002	a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0143 others(11): Show a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0143 a0001c0001t0003g0068 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0009g0051 a0001c0001t0009g0052 a0001c0001t0009g0053 a0001c0001t0009g0141 a0001c0001t0015g0047 a0001c0001t0015g0155 a0001c0001t0023g0102 a0003c0004t0002g0131	14	312	0.0449	13	c.105 others(30): Show c.1051-331_1051-330insAAAATAAAATAAA	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding	6/8			chr2	TogoVar
RFTN2_chr2_197563224_197680587	197665517	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03579.hp2 NA20129.hp1 HG02015.hp2 HG03579.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0025 a0001c0001t0006 a0001c0001t0025	a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0025g0308 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0025g0308	3	312	0.0096	13	c.139 others(30): Show c.139+9790_139+9802dupAAAAAAAAAAAAA	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding	1/8			chr2	TogoVar
RFWD3_chr16_74616399_74671877	74637122	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0107 a0001c0005t0007g0107	1	412	0.0024	13	c.119 others(30): Show c.1195-558_1195-546dupTTTTTTTTTTTTT	RFWD3	ENSG00000168411.14	transcript	ENST00000361070.9	protein_coding	7/12			chr16	TogoVar
RFX3_chr9_3213297_3531001	3292061	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	196	0.0051	13	c.731 others(30): Show c.731+1003_731+1015dupTTTTTTTTTTTTT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	6/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3505325	T T	TAAAATAT others(6): Show TAAAATATAAAATA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0098 a0001c0001t0030g0098	1	196	0.0051	13	c.-9+ others(30): Show c.-9+20421_-9+20422insTATTTTATATTTT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX4_chr12_106578004_106767803	106687549	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	296	0.0034	13	c.591 others(28): Show c.591+456_591+468dupAAAAAAAAAAAAA	RFX4	ENSG00000111783.13	transcript	ENST00000392842.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFX4_chr12_106578004_106767803	106714068	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG00639.hp1 others(18): Show HG00099.hp2 HG00609.hp1 HG00639.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01192.hp2 HG01934.hp1 HG01993.hp1 HG02273.hp1 HG02559.hp2 HG02698.hp1 HG03139.hp2 HG03209.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG04228.hp1 NA18967.hp2 NA19064.hp1 NA19065.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0006 a0001c0002 a0005c0006	a0001c0002t0001 a0005c0006t0001 a0001c0002t0001 a0005c0006t0001	a0001c0002t0001g0014 a0001c0002t0001g0019 a0001c0002t0001g0020 others(18): Show a0001c0002t0001g0014 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0031 a0001c0002t0001g0038 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0118 a0001c0002t0001g0121 a0001c0002t0001g0125 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0202 a0001c0002t0001g0240 a0005c0006t0001g0135	21	296	0.0710	13	c.994 others(30): Show c.994-1321_994-1309dupAAAAAAAAAAAAA	RFX4	ENSG00000111783.13	transcript	ENST00000392842.6	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFX6_chr6_116872242_116937161	116927743	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02148.hp2 HG02273.hp1 others(1): Show HG01993.hp2 HG02148.hp2 HG02273.hp1 HG03017.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0002 a0004c0005t0002 a0001c0002t0002 a0004c0005t0002	a0001c0002t0002g0050 a0004c0005t0002g0019 a0004c0005t0002g0052 a0001c0002t0002g0050 a0004c0005t0002g0019 a0004c0005t0002g0052	4	372	0.0108	13	c.239 others(30): Show c.2398+211_2398+223dupTTTTTTTTTTTTT	RFX6	ENSG00000185002.10	transcript	ENST00000332958.3	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
RFX6_chr6_116872242_116937161	116936488	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02897.hp1 NA19004.hp1 HG02886.hp1 HG02897.hp1 NA19004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0196 a0001c0001t0001g0281 a0002c0003t0002g0008 a0001c0001t0001g0196 a0001c0001t0001g0281 a0002c0003t0002g0008	3	372	0.0081	13	c.49 others(24): Show c.4982_*4983insGAGAGAGAGAGAG	RFX6	ENSG00000185002.10	transcript	ENST00000332958.3	protein_coding		4328		chr6	TogoVar
RFX6_chr6_116872242_116937161	116936532	G G	GAGAGAGA others(6): Show GAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	372	0.0027	13	c.50 others(24): Show c.5026_*5027insAGAGAGAGAGAGA	RFX6	ENSG00000185002.10	transcript	ENST00000332958.3	protein_coding		4372		chr6	TogoVar
RFX7_chr15_56082280_56248879	56097746	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00544.hp1 others(23): Show HG00280.hp2 HG00423.hp1 HG00544.hp1 HG01099.hp2 HG01258.hp1 HG01978.hp1 HG02071.hp2 HG02523.hp1 HG03516.hp1 HG03688.hp2 NA18940.hp1 NA18944.hp1 NA18944.hp2 NA18953.hp2 NA18956.hp2 NA18964.hp1 NA18969.hp2 NA18991.hp2 NA18999.hp2 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19063.hp1 NA19072.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0010 a0001c0002t0002 a0001c0001t0001 a0001c0001t0010 a0001c0002t0002	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 others(23): Show a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0173 a0001c0001t0001g0186 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0010g0180 a0001c0002t0002g0043 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0055 a0001c0002t0002g0058 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0089 a0001c0002t0002g0094 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0106 a0001c0002t0002g0108 a0001c0002t0002g0116 a0001c0002t0002g0125 a0001c0002t0002g0127 a0001c0002t0002g0131	26	360	0.0722	13	c.110 others(30): Show c.1107+322_1107+334dupTTTTTTTTTTTTT	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	9/9			chr15	TogoVar
RFX8_chr2_101392359_101480112	101399782	G G	GATAAGTT others(6): Show GATAAGTTCTATCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02723.hp2 HG02895.hp2 others(4): Show HG02622.hp2 HG02723.hp2 HG02895.hp2 HG02976.hp1 HG03209.hp2 HG03579.hp2 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0001 a0003c0003t0002	a0001c0001t0001g0250 a0003c0003t0001g0180 a0003c0003t0001g0235 others(4): Show a0001c0001t0001g0250 a0003c0003t0001g0180 a0003c0003t0001g0235 a0003c0003t0001g0315 a0003c0003t0001g0317 a0003c0003t0001g0318 a0003c0003t0002g0030	7	352	0.0199	13	c.124 others(32): Show c.1246-2059_1246-2058insAGATAGAACTTAT	RFX8	ENSG00000196460.14	transcript	ENST00000428343.6	protein_coding	11/11			chr2	TogoVar
RGMA_chr15_93030271_93094211	93038569	G G	GTTGTTTT others(6): Show GTTGTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp1 HG04184.hp2 HG02735.hp1 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0208 a0001c0002t0049g0247 a0001c0002t0049g0208 a0001c0002t0049g0247	2	414	0.0048	13	c.64 others(24): Show c.6428_*6429insAAAAAAAAAACAA	RGMA	ENSG00000182175.15	transcript	ENST00000329082.12	protein_coding	4/4	6428		chr15	TogoVar
RGN_chrX_47073443_47098313	47074191	A A	AAAAGAAA others(6): Show AAAAGAAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0240 a0001c0001t0018g0240	1	304	0.0033	13	c.-51 others(24): Show c.-5154_-5153insAAAGAAAAGAAAG	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding		4251		chrX	TogoVar
RGPD2_chr2_87750960_87830796	87825489	C C	CCGGCCAG others(6): Show CCGGCCAGGCCGAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0083 a0002c0003t0001g0083	1	176	0.0057	13	c.72+ others(26): Show c.72+168_72+169insCTCGGCCTGGCCG	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar

Search by Variant

Search

Search Results