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
REPS1_chr6_138898493_138993253	138955457	A A	AAGTGTGT others(2): Show AAGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01069.hp1 HG01516.hp2 others(16): Show HG00621.hp1 HG01069.hp1 HG01516.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp2 HG02257.hp1 HG02683.hp1 HG02698.hp1 HG02809.hp1 HG04199.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp2 NA18969.hp2 NA19010.hp1 NA19011.hp1 NA19066.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0010 a0002c0003t0004 others(1): Show a0001c0001t0001 a0001c0001t0010 a0002c0003t0004 a0002c0003t0012	a0001c0001t0001g0004 a0001c0001t0001g0170 a0001c0001t0001g0180 others(15): Show a0001c0001t0001g0004 a0001c0001t0001g0170 a0001c0001t0001g0180 a0001c0001t0001g0200 a0001c0001t0001g0213 a0001c0001t0001g0219 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0010g0009 a0002c0003t0004g0020 a0002c0003t0004g0028 a0002c0003t0004g0029 a0002c0003t0012g0307	19	79	0.2405	9	c.154 others(26): Show c.154-7545_154-7544insACACACACT	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	1/19			chr6	TogoVar
REPS2_chrX_16941658_17158272	16951559	A A	ACACACAC others(2): Show ACACACACCC	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18948.hp1 NA18990.hp1 HG04199.hp1 NA18948.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0062 a0001c0001t0001g0074 a0001c0001t0005g0066 a0001c0001t0001g0062 a0001c0001t0001g0074 a0001c0001t0005g0066	3	125	0.0240	9	c.273 others(26): Show c.273+4426_273+4427insACACACCCC	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	16996068	T T	TAAGGTTT others(2): Show TAAGGTTTAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02723.hp2 HG01106.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0161 a0001c0001t0007g0162 a0001c0001t0007g0161 a0001c0001t0007g0162	2	164	0.0122	9	c.274 others(28): Show c.274-10150_274-10149insGTTTACAAG	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17012380	A A	AAACAACA others(2): Show AAACAACAAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02886.hp2 HG02922.hp2 others(1): Show HG02723.hp2 HG02886.hp2 HG02922.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0019 others(1): Show a0001c0001t0007 a0001c0001t0009 a0001c0001t0019 a0001c0001t0021	a0001c0001t0007g0162 a0001c0001t0009g0115 a0001c0001t0019g0020 others(1): Show a0001c0001t0007g0162 a0001c0001t0009g0115 a0001c0001t0019g0020 a0001c0001t0021g0119	4	64	0.0625	9	c.397 others(26): Show c.397+6063_397+6071dupCAACAACAA	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RERE_chr1_8347404_8822640	8496150	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02818.hp1 others(2): Show HG02109.hp1 HG02257.hp2 HG02818.hp1 HG03209.hp1 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0200 a0001c0005t0009g0201 a0001c0005t0009g0202 others(2): Show a0001c0005t0009g0200 a0001c0005t0009g0201 a0001c0005t0009g0202 a0001c0005t0009g0203 a0001c0005t0009g0204	5	182	0.0275	9	c.100 others(26): Show c.1005-997_1005-989dupTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	9/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8529287	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01515.hp1 HG02109.hp1 others(4): Show HG01433.hp2 HG01515.hp1 HG02109.hp1 HG02257.hp2 HG02735.hp2 HG02818.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0038 a0001c0004t0005 a0001c0004t0025 others(1): Show a0001c0001t0038 a0001c0004t0005 a0001c0004t0025 a0001c0005t0009	a0001c0001t0038g0195 a0001c0004t0005g0079 a0001c0004t0005g0083 others(4): Show a0001c0001t0038g0195 a0001c0004t0005g0079 a0001c0004t0005g0083 a0001c0004t0025g0080 a0001c0005t0009g0201 a0001c0005t0009g0202 a0001c0005t0009g0204	7	58	0.1207	9	c.830 others(28): Show c.830+11918_830+11926dupAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8605845	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01175.hp1 HG01496.hp1 others(27): Show HG00280.hp2 HG01175.hp1 HG01496.hp1 HG01884.hp2 HG01981.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02523.hp2 HG02698.hp2 HG02896.hp2 HG03041.hp1 HG03225.hp2 HG03471.hp1 HG03654.hp1 HG04115.hp1 HG04199.hp1 NA18939.hp2 NA18964.hp1 NA18983.hp1 NA19000.hp1 NA19002.hp2 NA19074.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0022 a0001c0023 a0001c0024 a0002c0006 a0005c0013 a0009c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0002 a0001c0003t0011 a0001c0005t0026 a0001c0007t0003 a0001c0022t0008 a0001c0023t0002 a0001c0024t0002 a0002c0006t0003 a0005c0013t0021 a0005c0013t0029 a0009c0017t0003	a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0003g0087 others(27): Show a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0003g0087 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0118 a0001c0001t0006g0153 a0001c0001t0006g0154 a0001c0001t0006g0170 a0001c0001t0006g0181 a0001c0002t0002g0150 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0165 a0001c0002t0002g0171 a0001c0002t0002g0192 a0001c0003t0011g0096 a0001c0005t0026g0127 a0001c0007t0003g0084 a0001c0007t0003g0098 a0001c0007t0003g0099 a0001c0022t0008g0082 a0001c0023t0002g0175 a0001c0024t0002g0182 a0002c0006t0003g0088 a0002c0006t0003g0090 a0002c0006t0003g0094 a0005c0013t0021g0022 a0005c0013t0029g0111 a0009c0017t0003g0101	30	35	0.8571	9	c.522 others(26): Show c.522+8707_522+8715dupAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8632481	T T	TATCACAG others(2): Show TATCACAGTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp2 HG03130.hp1 others(3): Show HG02622.hp1 HG02886.hp2 HG03130.hp1 HG03195.hp2 HG03453.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 others(1): Show a0001c0002 a0001c0004 a0001c0005 a0001c0019	a0001c0002t0002 a0001c0002t0032 a0001c0004t0010 others(3): Show a0001c0002t0002 a0001c0002t0032 a0001c0004t0010 a0001c0004t0027 a0001c0005t0034 a0001c0019t0014	a0001c0002t0002g0157 a0001c0002t0032g0155 a0001c0004t0010g0107 others(3): Show a0001c0002t0002g0157 a0001c0002t0032g0155 a0001c0004t0010g0107 a0001c0004t0027g0106 a0001c0005t0034g0156 a0001c0019t0014g0123	6	202	0.0297	9	c.326 others(26): Show c.326-8102_326-8101insCACTGTGAT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	2/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8724875	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00609.hp1 others(20): Show HG00544.hp1 HG00597.hp1 HG00609.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG02155.hp2 HG02735.hp2 HG03041.hp1 HG03491.hp1 HG03669.hp1 HG03688.hp2 HG04228.hp2 NA18964.hp1 NA18983.hp1 NA19000.hp1 NA19007.hp2 NA19043.hp1 NA19074.hp2 NA20129.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0006 a0005c0013 a0009c0017	a0001c0001t0003 a0001c0001t0023 a0001c0001t0030 others(10): Show a0001c0001t0003 a0001c0001t0023 a0001c0001t0030 a0001c0001t0037 a0001c0001t0038 a0001c0002t0006 a0001c0004t0005 a0001c0004t0006 a0001c0004t0025 a0001c0007t0003 a0002c0006t0003 a0005c0013t0029 a0009c0017t0003	a0001c0001t0003g0087 a0001c0001t0003g0091 a0001c0001t0003g0093 others(20): Show a0001c0001t0003g0087 a0001c0001t0003g0091 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0100 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0115 a0001c0001t0023g0114 a0001c0001t0030g0143 a0001c0001t0037g0196 a0001c0001t0038g0195 a0001c0002t0006g0145 a0001c0004t0005g0079 a0001c0004t0005g0083 a0001c0004t0006g0146 a0001c0004t0025g0080 a0001c0007t0003g0084 a0001c0007t0003g0098 a0001c0007t0003g0099 a0002c0006t0003g0094 a0005c0013t0029g0111 a0009c0017t0003g0101	23	134	0.1716	9	c.-14 others(30): Show c.-144-68443_-144-68435dupTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8817826	C C	CTTTTTTT others(2): Show CTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01433.hp1 HG01433.hp2 others(8): Show HG00639.hp1 HG01433.hp1 HG01433.hp2 HG02004.hp1 HG02886.hp2 HG04228.hp2 NA19000.hp1 NA19005.hp2 NA19007.hp2 NA19090.hp2 NA20905.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0006 a0009c0017	a0001c0001t0003 a0001c0002t0005 a0001c0004t0003 others(6): Show a0001c0001t0003 a0001c0002t0005 a0001c0004t0003 a0001c0004t0005 a0001c0004t0025 a0001c0004t0027 a0001c0007t0003 a0002c0006t0024 a0009c0017t0003	a0001c0001t0003g0100 a0001c0001t0003g0103 a0001c0002t0005g0113 others(8): Show a0001c0001t0003g0100 a0001c0001t0003g0103 a0001c0002t0005g0113 a0001c0002t0005g0116 a0001c0004t0003g0092 a0001c0004t0005g0083 a0001c0004t0025g0080 a0001c0004t0027g0106 a0001c0007t0003g0098 a0002c0006t0024g0081 a0009c0017t0003g0101	11	37	0.2973	9	c.-82 others(18): Show c.-820_-812dupAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding		187		chr1	TogoVar
RERG_chr12_15102783_15226417	15166523	A A	ATGGTGGT others(2): Show ATGGTGGTGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00423.hp1 others(41): Show HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00544.hp1 HG00609.hp2 HG00673.hp2 HG00738.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01256.hp1 HG01496.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02074.hp1 HG02129.hp2 HG02132.hp1 HG02273.hp1 HG02523.hp2 HG03490.hp2 HG06807.hp1 NA18954.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18968.hp2 NA18975.hp2 NA18983.hp1 NA18989.hp1 NA18995.hp1 NA18995.hp2 NA19010.hp2 NA19070.hp1 NA19076.hp1 NA19077.hp1 NA19084.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0008	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0022 others(41): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0035 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0195 a0001c0001t0001g0217 a0001c0001t0001g0226 a0001c0001t0001g0252 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0284 a0001c0001t0001g0293 a0001c0001t0002g0120 a0001c0001t0002g0178 a0001c0001t0002g0204 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0002t0001g0032 a0001c0002t0001g0059 a0001c0002t0001g0142 a0001c0002t0001g0152 a0001c0002t0001g0185 a0001c0002t0001g0239 a0001c0002t0001g0257 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0008g0033	44	295	0.1492	9	c.62- others(26): Show c.62-45413_62-45405dupCCACCACCA	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RETN_chr19_7664049_7675455	7674859	C C	CTTTTTTT others(2): Show CTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(23): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG01261.hp2 HG02258.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03516.hp2 HG06807.hp2 NA18906.hp1 NA18951.hp1 NA18975.hp2 NA18982.hp2 NA18984.hp1 NA18989.hp1 NA19055.hp2 NA19058.hp1 NA19058.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0003g0003 a0001c0001t0003g0036 a0002c0002t0003g0024	26	75	0.3467	9	c.45 others(20): Show c.4510_*4511insTTTTTTTTT	RETN	ENSG00000104918.8	transcript	ENST00000221515.6	protein_coding		4405		chr19	TogoVar
RETREG1_chr5_16468053_16621997	16614608	G G	GCATGTAA others(2): Show GCATGTAATT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02559.hp1 others(1): Show HG02145.hp2 HG02258.hp1 HG02559.hp1 HG03195.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0005 a0001c0001 a0002c0003 a0003c0005	a0001c0001t0001 a0002c0003t0005 a0003c0005t0001 a0001c0001t0001 a0002c0003t0005 a0003c0005t0001	a0001c0001t0001g0165 a0001c0001t0001g0167 a0002c0003t0005g0168 others(1): Show a0001c0001t0001g0165 a0001c0001t0001g0167 a0002c0003t0005g0168 a0003c0005t0001g0166	4	292	0.0137	9	c.320 others(26): Show c.320+2043_320+2044insAATTACATG	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	1/8			chr5	TogoVar
RETREG2_chr2_219173275_219190475	219186811	G G	GAAAAAAA others(2): Show GAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(129): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00558.hp2 HG00639.hp2 HG00733.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18943.hp2 NA18946.hp1 NA18948.hp1 NA18954.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18969.hp2 NA18972.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19004.hp1 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp2 NA19055.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19070.hp2 NA19082.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0002 a0001c0005 a0002c0001 others(3): Show a0001c0002 a0001c0005 a0002c0001 a0002c0010 a0005c0007 a0006c0009	a0001c0002t0034 a0001c0002t0035 a0001c0005t0008 others(15): Show a0001c0002t0034 a0001c0002t0035 a0001c0005t0008 a0001c0005t0027 a0002c0001t0001 a0002c0001t0022 a0002c0001t0037 a0002c0001t0038 a0002c0001t0039 a0002c0001t0040 a0002c0001t0041 a0002c0001t0043 a0002c0001t0044 a0002c0001t0045 a0002c0001t0046 a0002c0010t0014 a0005c0007t0001 a0006c0009t0026	a0001c0002t0034g0001 a0001c0002t0035g0001 a0001c0005t0008g0005 others(23): Show a0001c0002t0034g0001 a0001c0002t0035g0001 a0001c0005t0008g0005 a0001c0005t0008g0006 a0001c0005t0008g0020 a0001c0005t0008g0021 a0001c0005t0027g0005 a0002c0001t0001g0002 a0002c0001t0001g0004 a0002c0001t0001g0010 a0002c0001t0001g0011 a0002c0001t0001g0012 a0002c0001t0001g0014 a0002c0001t0022g0002 a0002c0001t0037g0018 a0002c0001t0038g0002 a0002c0001t0039g0002 a0002c0001t0040g0002 a0002c0001t0041g0002 a0002c0001t0043g0002 a0002c0001t0044g0002 a0002c0001t0045g0002 a0002c0001t0046g0002 a0002c0010t0014g0001 a0005c0007t0001g0002 a0006c0009t0026g0005	132	254	0.5197	9	c.41 others(20): Show c.4182_*4183insAAAAAAAAA	RETREG2	ENSG00000144567.11	transcript	ENST00000430297.7	protein_coding		1337		chr2	TogoVar
RETREG3_chr17_42574515_42614374	42579242	G G	GAAAAAAA others(2): Show GAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01243.hp1 others(17): Show HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01884.hp1 HG02055.hp2 HG02258.hp2 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03209.hp1 HG03225.hp2 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016	a0001c0001t0005g0017 a0001c0001t0005g0137 a0001c0001t0005g0138 others(14): Show a0001c0001t0005g0017 a0001c0001t0005g0137 a0001c0001t0005g0138 a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0005g0142 a0001c0001t0005g0145 a0001c0001t0005g0146 a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0006g0018 a0001c0001t0006g0019 a0001c0001t0006g0139 a0001c0001t0006g0143 a0001c0001t0006g0144 a0001c0001t0006g0151 a0001c0001t0016g0148	20	37	0.5405	9	c.25 others(20): Show c.2570_*2571insTTTTTTTTT	RETREG3	ENSG00000141699.11	transcript	ENST00000309428.10	protein_coding		272		chr17	TogoVar
REV3L_chr6_111294033_111488218	111303165	C C	CTTTCTTT others(2): Show CTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02135.hp1 HG04115.hp2 others(3): Show HG01167.hp2 HG02135.hp1 HG04115.hp2 NA18939.hp2 NA18974.hp1 NA18999.hp1	a0002 a0018 a0002 a0018	a0002c0002 a0018c0030 a0002c0002 a0018c0030	a0002c0002t0001 a0018c0030t0001 a0002c0002t0001 a0018c0030t0001	a0002c0002t0001g0167 a0002c0002t0001g0175 a0002c0002t0001g0213 others(3): Show a0002c0002t0001g0167 a0002c0002t0001g0175 a0002c0002t0001g0213 a0002c0002t0001g0219 a0002c0002t0001g0229 a0018c0030t0001g0226	6	63	0.0952	9	c.925 others(28): Show c.9253-3010_9253-3009insAAAAAGAAA	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	31/31			chr6	TogoVar
REV3L_chr6_111294033_111488218	111303701	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01346.hp2 HG03130.hp1 others(3): Show HG00673.hp2 HG01346.hp2 HG03130.hp1 NA18612.hp2 NA19083.hp1 NA19090.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0013 a0001c0001 a0007c0013	a0001c0001t0001 a0007c0013t0001 a0001c0001t0001 a0007c0013t0001	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0099 others(3): Show a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0113 a0007c0013t0001g0133	6	126	0.0476	9	c.925 others(28): Show c.9253-3554_9253-3546dupAAAAAAAAA	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	31/31			chr6	TogoVar
REXO2_chr11_114434467_114455279	114453978	C C	CTGGATTA others(2): Show CTGGATTACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00544.hp2 others(140): Show HG00140.hp1 HG00408.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02148.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp2 HG02683.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03225.hp2 HG03491.hp1 HG03516.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp1 HG04184.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp2 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19084.hp2 NA19087.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(30): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0100 a0001c0001t0003g0001 a0001c0002t0001g0015 a0002c0004t0001g0065	143	436	0.3280	9	c.40 others(20): Show c.4003_*4004insTGGATTACA	REXO2	ENSG00000076043.11	transcript	ENST00000265881.10	protein_coding		3700		chr11	TogoVar
RFC1_chr4_39282456_39371362	39329127	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02451.hp2 HG02723.hp1 others(7): Show HG01167.hp1 HG02451.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG03225.hp2 NA18971.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 others(1): Show a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0004t0004	a0001c0002t0002g0026 a0001c0003t0001g0062 a0001c0004t0001g0012 others(7): Show a0001c0002t0002g0026 a0001c0003t0001g0062 a0001c0004t0001g0012 a0001c0004t0001g0017 a0001c0004t0001g0022 a0001c0004t0001g0023 a0001c0004t0001g0027 a0001c0004t0001g0045 a0001c0004t0004g0270 a0001c0004t0004g0273	10	27	0.3704	9	c.332 others(26): Show c.332-1380_332-1372dupTTTTTTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	4/24			chr4	TogoVar
RFC1_chr4_39282456_39371362	39355096	A A	ATACACAC others(2): Show ATACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00673.hp1 HG01515.hp1 others(8): Show HG00639.hp2 HG00673.hp1 HG01515.hp1 HG01993.hp2 HG02040.hp2 NA18945.hp1 NA18954.hp2 NA18964.hp1 NA18972.hp2 NA19007.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 others(8): Show a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0231 a0001c0001t0001g0243	11	199	0.0553	9	c.4-3 others(22): Show c.4-3621_4-3620insGTGTGTGTA	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	1/24			chr4	TogoVar
RFLNA_chr12_124290093_124321024	124296146	C C	CTTTCTTT others(2): Show CTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18994.hp1 NA19079.hp1 NA18993.hp2 NA18994.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0016 a0001c0002t0003 a0001c0002t0016	a0001c0002t0003g0228 a0001c0002t0016g0229 a0001c0002t0016g0230 a0001c0002t0003g0228 a0001c0002t0016g0229 a0001c0002t0016g0230	3	298	0.0101	9	c.207 others(24): Show c.207+512_207+513insTCTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFTN1_chr3_16310845_16518699	16403906	A A	AATATATA others(2): Show AATATATATT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02818.hp1 HG02922.hp1 HG01433.hp1 HG02818.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0226 a0002c0003t0003g0095 a0002c0003t0003g0253 a0001c0001t0001g0226 a0002c0003t0003g0095 a0002c0003t0003g0253	3	202	0.0149	9	c.441 others(26): Show c.441+5468_441+5469insAATATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16404132	A A	ATTATATT others(2): Show ATTATATTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02809.hp2 NA18981.hp2 others(1): Show HG01433.hp1 HG02809.hp2 NA18981.hp2 NA18992.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0002 a0002c0003t0003 a0001c0001t0001 a0001c0002t0002 a0002c0003t0003	a0001c0001t0001g0226 a0001c0002t0002g0090 a0001c0002t0002g0117 others(1): Show a0001c0001t0001g0226 a0001c0002t0002g0090 a0001c0002t0002g0117 a0002c0003t0003g0166	4	157	0.0255	9	c.441 others(26): Show c.441+5242_441+5243insAAAATATAA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16404321	A A	AATATATA others(2): Show AATATATAAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02630.hp2 others(15): Show HG02257.hp2 HG02280.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02895.hp1 HG02896.hp1 HG02970.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp1 HG03540.hp2 HG03579.hp1 HG04228.hp1 HG06807.hp1 NA18964.hp2 NA18970.hp2 NA19043.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0007c0008	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0006 a0007c0008t0001	a0001c0001t0001g0083 a0001c0001t0001g0118 a0001c0001t0001g0147 others(15): Show a0001c0001t0001g0083 a0001c0001t0001g0118 a0001c0001t0001g0147 a0001c0001t0001g0185 a0001c0001t0001g0225 a0001c0002t0001g0176 a0001c0002t0002g0033 a0001c0002t0002g0067 a0002c0003t0003g0015 a0002c0003t0003g0097 a0002c0003t0003g0174 a0002c0003t0003g0250 a0002c0003t0004g0010 a0002c0003t0004g0035 a0002c0003t0004g0245 a0002c0003t0004g0249 a0002c0003t0006g0180 a0007c0008t0001g0026	18	266	0.0677	9	c.441 others(26): Show c.441+5045_441+5053dupATTATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN2_chr2_197563224_197680587	197607475	T T	TATAATAA others(2): Show TATAATAATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp1 HG02559.hp2 others(8): Show HG01243.hp1 HG02280.hp1 HG02559.hp2 HG02615.hp2 HG03098.hp1 HG03209.hp1 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG06807.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0029	a0001c0001t0003g0003 a0001c0001t0003g0011 a0001c0001t0003g0142 others(6): Show a0001c0001t0003g0003 a0001c0001t0003g0011 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0146 a0001c0001t0006g0004 a0001c0001t0008g0189 a0001c0001t0008g0190 a0001c0001t0029g0052	11	134	0.0821	9	c.115 others(28): Show c.1154+8392_1154+8400dupTATTATTAT	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding	7/8			chr2	TogoVar
RFTN2_chr2_197563224_197680587	197665776	A A	ACTGATAT others(2): Show ACTGATATGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG01069.hp1 others(52): Show HG00323.hp2 HG00408.hp1 HG01069.hp1 HG01070.hp2 HG01106.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01943.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02083.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02280.hp2 HG02300.hp2 HG02723.hp2 HG02886.hp2 HG02970.hp1 HG03139.hp2 HG03579.hp2 HG04115.hp2 HG04199.hp2 NA18939.hp2 NA18946.hp1 NA18951.hp1 NA18957.hp2 NA18962.hp2 NA18966.hp2 NA18973.hp2 NA18974.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19009.hp2 NA19056.hp2 NA19062.hp1 NA19079.hp1 NA19084.hp1 NA19086.hp2 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0006 a0005c0005 a0001c0001 a0001c0006 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0022 a0001c0001t0023 a0001c0006t0006 a0005c0005t0006	a0001c0001t0001g0147 a0001c0001t0001g0161 a0001c0001t0001g0192 others(50): Show a0001c0001t0001g0147 a0001c0001t0001g0161 a0001c0001t0001g0192 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0044 a0001c0001t0003g0146 a0001c0001t0003g0154 a0001c0001t0003g0158 a0001c0001t0003g0160 a0001c0001t0003g0163 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0170 a0001c0001t0003g0191 a0001c0001t0003g0298 a0001c0001t0006g0024 a0001c0001t0006g0148 a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0001t0006g0152 a0001c0001t0006g0164 a0001c0001t0011g0157 a0001c0001t0012g0149 a0001c0001t0014g0010 a0001c0001t0014g0015 a0001c0001t0022g0031 a0001c0001t0023g0162 a0001c0006t0006g0169 a0005c0005t0006g0153	55	310	0.1774	9	c.139 others(26): Show c.139+9535_139+9543dupACATATCAG	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding	1/8			chr2	TogoVar
RFX2_chr19_5988164_6115500	6027150	T T	TAAAACAC others(2): Show TAAAACACCC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02155.hp1 NA18612.hp1 others(7): Show HG02027.hp1 HG02155.hp1 NA18612.hp1 NA18953.hp1 NA18973.hp2 NA18983.hp2 NA19000.hp1 NA19066.hp2 NA19077.hp1 NA19085.hp2	a0003 a0008 a0003 a0008	a0003c0005 a0008c0010 a0003c0005 a0008c0010	a0003c0005t0001 a0003c0005t0003 a0008c0010t0001 a0003c0005t0001 a0003c0005t0003 a0008c0010t0001	a0003c0005t0001g0044 a0003c0005t0001g0045 a0003c0005t0001g0047 others(7): Show a0003c0005t0001g0044 a0003c0005t0001g0045 a0003c0005t0001g0047 a0003c0005t0001g0048 a0003c0005t0001g0049 a0003c0005t0001g0050 a0003c0005t0001g0051 a0003c0005t0001g0196 a0003c0005t0003g0019 a0008c0010t0001g0046	10	306	0.0327	9	c.523 others(24): Show c.523-914_523-913insGGGTGTTTT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	5/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6107616	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01934.hp2 HG02109.hp1 others(5): Show HG01891.hp2 HG01934.hp2 HG02109.hp1 HG02258.hp2 HG02970.hp2 HG03453.hp2 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 a0001c0003t0004 a0001c0003t0011 a0001c0003t0014 a0001c0004t0001	a0001c0001t0001g0289 a0001c0001t0009g0290 a0001c0003t0001g0258 others(5): Show a0001c0001t0001g0289 a0001c0001t0009g0290 a0001c0003t0001g0258 a0001c0003t0001g0259 a0001c0003t0004g0261 a0001c0003t0011g0262 a0001c0003t0014g0260 a0001c0004t0001g0293	8	169	0.0473	9	c.-9+ others(24): Show c.-9+2768_-9+2776dupTTTTTTTTT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX3_chr9_3213297_3531001	3504271	T T	TACCACAT others(2): Show TACCACATAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01256.hp2 HG02132.hp1 others(6): Show HG00438.hp2 HG01256.hp2 HG02132.hp1 HG02976.hp2 NA18747.hp2 NA18973.hp2 NA19066.hp1 NA19068.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0061 a0001c0002t0009	a0001c0001t0001g0083 a0001c0001t0001g0108 a0001c0001t0002g0081 others(6): Show a0001c0001t0001g0083 a0001c0001t0001g0108 a0001c0001t0002g0081 a0001c0001t0006g0027 a0001c0001t0006g0082 a0001c0001t0008g0052 a0001c0001t0011g0080 a0001c0001t0061g0085 a0001c0002t0009g0030	9	193	0.0466	9	c.-9+ others(26): Show c.-9+21475_-9+21476insCTATGTGGT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX6_chr6_116872242_116937161	116877064	T T	TCCACCGC others(2): Show TCCACCGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG03239.hp1 others(1): Show HG01069.hp2 HG01071.hp2 HG03239.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0046 a0001c0001t0001g0006 a0001c0001t0001g0046	4	318	0.0126	9	c.-21 others(18): Show c.-212_-211insCCACCGCGG	RFX6	ENSG00000185002.10	transcript	ENST00000332958.3	protein_coding		177		chr6	TogoVar
RFX6_chr6_116872242_116937161	116927743	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02717.hp1 HG02886.hp2 others(3): Show HG02145.hp2 HG02717.hp1 HG02886.hp2 HG02897.hp1 NA19240.hp2 NA20300.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0002 a0003c0004t0002 a0002c0003t0002 a0003c0004t0002	a0002c0003t0002g0011 a0002c0003t0002g0078 a0003c0004t0002g0024 a0002c0003t0002g0011 a0002c0003t0002g0078 a0003c0004t0002g0024	6	234	0.0256	9	c.239 others(26): Show c.2398+215_2398+223dupTTTTTTTTT	RFX6	ENSG00000185002.10	transcript	ENST00000332958.3	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
RFX7_chr15_56082280_56248879	56097746	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02451.hp2 HG02572.hp2 others(5): Show HG01167.hp2 HG02451.hp2 HG02572.hp2 HG02647.hp2 HG02896.hp2 HG03098.hp1 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0001t0007 a0001c0001t0035 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0035 a0001c0015t0043	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0007g0021 others(5): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0007g0021 a0001c0001t0007g0022 a0001c0001t0007g0026 a0001c0001t0007g0029 a0001c0001t0035g0276 a0001c0015t0043g0349	8	24	0.3333	9	c.110 others(26): Show c.1107+326_1107+334dupTTTTTTTTT	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	9/9			chr15	TogoVar
RGCC_chr13_41452550_41475871	41469264	G G	GTAATAAT others(2): Show GTAATAATAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02258.hp2 HG02965.hp2 others(5): Show HG01192.hp1 HG02258.hp2 HG02965.hp2 HG02970.hp1 HG03195.hp1 HG06807.hp1 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0056 a0001c0001t0001g0079 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0056 a0001c0001t0001g0079 a0001c0001t0001g0080	8	377	0.0212	9	c.406 others(24): Show c.406+451_406+459dupTAATAATAA	RGCC	ENSG00000102760.13	transcript	ENST00000379359.4	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr13	TogoVar
RGN_chrX_47073443_47098313	47086784	A A	AGAGAGAG others(2): Show AGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02738.hp1 NA18968.hp1 HG01106.hp1 HG02738.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0210 a0001c0001t0001g0271 a0001c0001t0001g0176 a0001c0001t0001g0210 a0001c0001t0001g0271	3	296	0.0101	9	c.346 others(26): Show c.346+2184_346+2185insGAGAGAGAG	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding	4/7			chrX	TogoVar
RGPD2_chr2_87750960_87830796	87824794	G G	GGCCGCCG others(2): Show GGCCGCCGCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02486.hp1 others(2): Show HG02109.hp2 HG02145.hp1 HG02486.hp1 HG03225.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 others(2): Show a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0156	5	166	0.0301	9	c.72+ others(22): Show c.72+855_72+863dupGGCGGCGGC	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGPD4_chr2_107821892_107897544	107844825	T T	TTCTTTTT others(2): Show TTCTTTTTTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp2 HG02895.hp1 others(2): Show HG02280.hp1 HG02280.hp2 HG02895.hp1 HG03098.hp1 NA18906.hp1	a0006 a0006	a0006c0007 a0006c0076 a0006c0007 a0006c0076	a0006c0007t0005 a0006c0007t0018 a0006c0076t0005 a0006c0007t0005 a0006c0007t0018 a0006c0076t0005	a0006c0007t0005g0196 a0006c0007t0005g0201 a0006c0007t0018g0199 others(2): Show a0006c0007t0005g0196 a0006c0007t0005g0201 a0006c0007t0018g0199 a0006c0007t0018g0200 a0006c0076t0005g0192	5	370	0.0135	9	c.782 others(26): Show c.782+1096_782+1097insCTTTTTTGT	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD5_chr2_109789305_109862705	109845394	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02027.hp2 HG03453.hp1 HG00140.hp2 HG02027.hp2 HG03453.hp1	a0001 a0007 a0010 a0001 a0007 a0010	a0001c0005 a0007c0014 a0010c0019 a0001c0005 a0007c0014 a0010c0019	a0001c0005t0001 a0007c0014t0003 a0010c0019t0003 a0001c0005t0001 a0007c0014t0003 a0010c0019t0003	a0001c0005t0001g0039 a0007c0014t0003g0002 a0010c0019t0003g0012 a0001c0005t0001g0039 a0007c0014t0003g0002 a0010c0019t0003g0012	3	11	0.2727	9	c.506 others(26): Show c.5061+160_5061+168dupTTTTTTTTT	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD8_chr2_112363369_112438645	112365489	G G	GTTTTTTT others(2): Show GTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02071.hp2 HG02965.hp1 others(11): Show HG02015.hp2 HG02071.hp2 HG02965.hp1 NA18906.hp2 NA18941.hp2 NA18954.hp2 NA18957.hp2 NA18966.hp1 NA18966.hp2 NA19005.hp2 NA19066.hp1 NA19080.hp1 NA19084.hp1 NA19084.hp2	a0001 a0004 a0013 a0001 a0004 a0013	a0001c0001 a0001c0027 a0004c0005 others(1): Show a0001c0001 a0001c0027 a0004c0005 a0013c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 a0001c0027t0001 a0004c0005t0007 a0013c0014t0006	a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 others(11): Show a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0003g0160 a0001c0001t0021g0018 a0001c0027t0001g0189 a0004c0005t0007g0245 a0013c0014t0006g0234 a0013c0014t0006g0235	14	78	0.1795	9	c.46 others(20): Show c.4688_*4689insAAAAAAAAA	RGPD8	ENSG00000169629.12	transcript	ENST00000302558.8	protein_coding		2879		chr2	TogoVar
RGR_chr10_84240053_84264960	84241499	G G	GGCCCAGC others(2): Show GGCCCAGCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(228): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18957.hp2 NA18959.hp2 NA18963.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA19001.hp2 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp2 NA19064.hp1 NA19067.hp1 NA19072.hp1 NA19077.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0002c0004 a0002c0006 a0003c0009 a0004c0008 a0005c0007	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(15): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0003t0001 a0001c0003t0003 a0001c0005t0001 a0001c0005t0005 a0001c0010t0005 a0002c0004t0003 a0002c0006t0003 a0003c0009t0005 a0004c0008t0002 a0005c0007t0004	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 others(118): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0011g0033 a0001c0001t0012g0004 a0001c0002t0001g0054 a0001c0002t0001g0160 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0011 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0179 a0001c0002t0002g0183 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0003g0017 a0001c0002t0003g0023 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0056 a0001c0002t0003g0058 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0081 a0001c0002t0003g0084 a0001c0002t0004g0003 a0001c0002t0008g0180 a0001c0003t0001g0005 a0001c0003t0001g0014 a0001c0003t0001g0016 a0001c0003t0001g0025 a0001c0003t0001g0036 a0001c0003t0001g0057 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0082 a0001c0003t0001g0083 a0001c0003t0001g0102 a0001c0003t0001g0115 a0001c0003t0001g0190 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0193 a0001c0003t0003g0024 a0001c0005t0001g0008 a0001c0005t0005g0008 a0001c0005t0005g0022 a0001c0005t0005g0037 a0001c0005t0005g0059 a0001c0010t0005g0060 a0002c0004t0003g0010 a0002c0004t0003g0018 a0002c0004t0003g0019 a0002c0004t0003g0020 a0002c0004t0003g0041 a0002c0004t0003g0087 a0002c0004t0003g0088 a0002c0004t0003g0090 a0002c0004t0003g0091 a0002c0004t0003g0092 a0002c0004t0003g0093 a0002c0004t0003g0094 a0002c0004t0003g0096 a0002c0004t0003g0097 a0002c0004t0003g0099 a0002c0004t0003g0153 a0002c0004t0003g0158 a0002c0006t0003g0008 a0002c0006t0003g0022 a0003c0009t0005g0061 a0004c0008t0002g0184 a0005c0007t0004g0098	231	424	0.5448	9	c.-35 others(20): Show c.-3592_-3591insGCCCAGCAA	RGR	ENSG00000148604.15	transcript	ENST00000652092.2	protein_coding		3553		chr10	TogoVar
RGS12_chr4_3288021_3444913	3341671	G G	GGAGGGTG others(2): Show GGAGGGTGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp2 HG00733.hp2 others(96): Show HG00099.hp1 HG00621.hp2 HG00733.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01358.hp2 HG01361.hp1 HG01891.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18939.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp2 NA18965.hp2 NA18966.hp1 NA18973.hp1 NA18975.hp2 NA18982.hp1 NA18984.hp2 NA18994.hp2 NA19000.hp2 NA19004.hp1 NA19005.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19060.hp2 NA19065.hp2 NA19070.hp2 NA19091.hp2 NA19240.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0008 a0010 a0011 a0012 a0013 a0014 a0017 a0019 a0021	a0001c0002 a0001c0004 a0001c0006 others(20): Show a0001c0002 a0001c0004 a0001c0006 a0001c0010 a0001c0041 a0002c0011 a0002c0029 a0003c0017 a0003c0047 a0003c0048 a0003c0049 a0004c0008 a0004c0019 a0004c0038 a0008c0030 a0010c0044 a0011c0043 a0012c0050 a0013c0039 a0014c0045 a0017c0037 a0019c0042 a0021c0040	a0001c0002t0001 a0001c0004t0001 a0001c0006t0001 others(20): Show a0001c0002t0001 a0001c0004t0001 a0001c0006t0001 a0001c0010t0001 a0001c0041t0001 a0002c0011t0001 a0002c0029t0001 a0003c0017t0001 a0003c0047t0001 a0003c0048t0001 a0003c0049t0001 a0004c0008t0001 a0004c0019t0001 a0004c0038t0001 a0008c0030t0005 a0010c0044t0001 a0011c0043t0001 a0012c0050t0001 a0013c0039t0001 a0014c0045t0001 a0017c0037t0001 a0019c0042t0001 a0021c0040t0001	a0001c0002t0001g0004 a0001c0002t0001g0020 a0001c0002t0001g0021 others(95): Show a0001c0002t0001g0004 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0099 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0144 a0001c0002t0001g0163 a0001c0002t0001g0170 a0001c0002t0001g0185 a0001c0002t0001g0187 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0210 a0001c0002t0001g0212 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0222 a0001c0002t0001g0226 a0001c0002t0001g0228 a0001c0002t0001g0235 a0001c0002t0001g0246 a0001c0002t0001g0250 a0001c0002t0001g0269 a0001c0004t0001g0019 a0001c0004t0001g0100 a0001c0004t0001g0135 a0001c0004t0001g0168 a0001c0004t0001g0169 a0001c0004t0001g0217 a0001c0004t0001g0227 a0001c0004t0001g0231 a0001c0004t0001g0233 a0001c0004t0001g0234 a0001c0004t0001g0236 a0001c0004t0001g0237 a0001c0004t0001g0238 a0001c0004t0001g0242 a0001c0004t0001g0247 a0001c0004t0001g0253 a0001c0004t0001g0259 a0001c0004t0001g0263 a0001c0004t0001g0264 a0001c0004t0001g0265 a0001c0004t0001g0271 a0001c0006t0001g0147 a0001c0006t0001g0148 a0001c0006t0001g0149 a0001c0006t0001g0161 a0001c0006t0001g0167 a0001c0006t0001g0177 a0001c0006t0001g0178 a0001c0006t0001g0181 a0001c0006t0001g0182 a0001c0006t0001g0183 a0001c0006t0001g0184 a0001c0006t0001g0190 a0001c0006t0001g0193 a0001c0010t0001g0002 a0001c0010t0001g0171 a0001c0010t0001g0173 a0001c0010t0001g0175 a0001c0010t0001g0198 a0001c0041t0001g0223 a0002c0011t0001g0172 a0002c0011t0001g0225 a0002c0011t0001g0229 a0002c0011t0001g0230 a0002c0011t0001g0232 a0002c0011t0001g0239 a0002c0029t0001g0160 a0002c0029t0001g0241 a0003c0017t0001g0251 a0003c0017t0001g0254 a0003c0017t0001g0255 a0003c0047t0001g0202 a0003c0048t0001g0258 a0003c0049t0001g0252 a0004c0008t0001g0010 a0004c0008t0001g0012 a0004c0008t0001g0015 a0004c0008t0001g0016 a0004c0008t0001g0017 a0004c0008t0001g0137 a0004c0019t0001g0013 a0004c0019t0001g0014 a0004c0038t0001g0145 a0008c0030t0005g0142 a0008c0030t0005g0143 a0010c0044t0001g0186 a0011c0043t0001g0162 a0012c0050t0001g0098 a0013c0039t0001g0243 a0014c0045t0001g0165 a0017c0037t0001g0256 a0019c0042t0001g0194 a0021c0040t0001g0174	99	114	0.8684	9	c.188 others(28): Show c.1882-1263_1882-1262insGGTGGAGAG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS14_chr5_177352924_177377596	177371068	C C	CGGGGCGG others(2): Show CGGGGCGGGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp1 HG02258.hp1 others(10): Show HG01109.hp1 HG02145.hp1 HG02258.hp1 HG02559.hp2 HG02809.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03453.hp2 NA18522.hp2 NA19240.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0009 a0006c0007 a0001c0001 a0001c0009 a0006c0007	a0001c0001t0001 a0001c0009t0001 a0006c0007t0001 a0001c0001t0001 a0001c0009t0001 a0006c0007t0001	a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0009t0001g0118 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0009t0001g0118 a0006c0007t0001g0008	13	407	0.0319	9	c.125 others(24): Show c.1254+37_1254+38insGGGGCGGGG	RGS14	ENSG00000169220.18	transcript	ENST00000408923.8	protein_coding	11/14			chr5	TogoVar
RGS20_chr8_53846795_53964303	53914037	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp1 HG02723.hp1 others(3): Show HG02280.hp2 HG02630.hp1 HG02723.hp1 HG02818.hp1 HG03041.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004	a0001c0001t0002g0021 a0001c0001t0002g0243 a0001c0001t0003g0030 others(3): Show a0001c0001t0002g0021 a0001c0001t0002g0243 a0001c0001t0003g0030 a0001c0003t0002g0025 a0001c0003t0003g0026 a0001c0003t0004g0027	6	129	0.0465	9	c.511 others(28): Show c.511-25536_511-25528dupTTTTTTTTT	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS20_chr8_53846795_53964303	53931552	A A	AAACAACA others(2): Show AAACAACAAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02486.hp2 HG01167.hp2 HG01169.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0116 a0001c0001t0001g0197 a0001c0001t0001g0202	3	60	0.0500	9	c.511 others(26): Show c.511-7991_511-7983dupCAACAACAA	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS3_chr9_113458727_113602738	113553441	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01981.hp1 HG02132.hp2 others(11): Show HG01109.hp2 HG01981.hp1 HG02132.hp2 HG02559.hp2 HG02572.hp1 HG02723.hp2 HG02976.hp1 HG03831.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18968.hp1 NA18974.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0006t0001 a0001c0013t0001	a0001c0001t0001g0080 a0001c0001t0001g0134 a0001c0001t0001g0141 others(11): Show a0001c0001t0001g0080 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0002g0067 a0001c0001t0003g0056 a0001c0001t0003g0068 a0001c0002t0001g0040 a0001c0006t0001g0028 a0001c0006t0001g0089 a0001c0013t0001g0142	14	83	0.1687	9	c.170 others(30): Show c.1701+16534_1701+16542dupAAAAAAAAA	RGS3	ENSG00000138835.24	transcript	ENST00000695401.1	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr9	TogoVar
RGS3_chr9_113458727_113602738	113553459	A A	AAAAAAAA others(2): Show AAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00735.hp2 HG02717.hp2 others(2): Show HG00544.hp2 HG00735.hp2 HG02717.hp2 HG03239.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0061 a0001c0001t0001g0088 a0001c0001t0003g0045 others(2): Show a0001c0001t0001g0061 a0001c0001t0001g0088 a0001c0001t0003g0045 a0001c0001t0004g0001 a0001c0002t0001g0138	5	142	0.0352	9	c.170 others(30): Show c.1701+16542_1701+16543insAAAAAAATA	RGS3	ENSG00000138835.24	transcript	ENST00000695401.1	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr9	TogoVar
RGS4_chr1_163064361_163081802	163071855	G G	GCCCCCCC others(2): Show GCCCCCCCCA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00621.hp2 others(25): Show HG00408.hp1 HG00544.hp2 HG00621.hp2 HG00642.hp1 HG00738.hp2 HG01175.hp2 HG01358.hp1 HG01496.hp1 HG02148.hp2 HG02683.hp2 HG02698.hp2 HG03017.hp1 HG03209.hp2 HG03492.hp2 HG03669.hp2 NA18949.hp2 NA18955.hp1 NA18968.hp2 NA18973.hp1 NA18981.hp2 NA18991.hp1 NA18993.hp2 NA19010.hp1 NA19010.hp2 NA19057.hp1 NA19065.hp1 NA19079.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0037	a0001c0001t0001g0002 a0001c0001t0001g0040 a0001c0001t0001g0057 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0040 a0001c0001t0001g0057 a0001c0001t0001g0071 a0001c0001t0002g0002 a0001c0001t0002g0040 a0001c0001t0002g0052 a0001c0001t0002g0072 a0001c0001t0002g0079 a0001c0001t0004g0073 a0001c0001t0037g0002	28	171	0.1637	9	c.45- others(22): Show c.45-532_45-531insACCCCCCCC	RGS4	ENSG00000117152.14	transcript	ENST00000367909.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGS5_chr1_163137299_163207916	163147912	C C	CTTTTTCT others(2): Show CTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00423.hp2 others(54): Show HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00609.hp2 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG01074.hp2 HG01106.hp1 HG01175.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp2 HG02273.hp2 HG02300.hp2 HG02559.hp1 HG02602.hp1 HG02630.hp1 HG02683.hp2 HG02738.hp2 HG02809.hp1 HG03017.hp2 HG03225.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18906.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp2 NA18977.hp2 NA18984.hp2 NA18995.hp1 NA19009.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031	a0001c0001t0001g0114 a0001c0001t0001g0220 a0001c0001t0002g0035 others(51): Show a0001c0001t0001g0114 a0001c0001t0001g0220 a0001c0001t0002g0035 a0001c0001t0002g0048 a0001c0001t0002g0056 a0001c0001t0002g0134 a0001c0001t0002g0166 a0001c0001t0002g0273 a0001c0001t0002g0301 a0001c0001t0002g0305 a0001c0001t0003g0013 a0001c0001t0003g0024 a0001c0001t0003g0051 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0067 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0110 a0001c0001t0003g0121 a0001c0001t0003g0135 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0158 a0001c0001t0003g0173 a0001c0001t0003g0175 a0001c0001t0003g0178 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0191 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0239 a0001c0001t0003g0251 a0001c0001t0003g0254 a0001c0001t0006g0008 a0001c0001t0006g0045 a0001c0001t0006g0130 a0001c0001t0006g0169 a0001c0001t0006g0171 a0001c0001t0006g0183 a0001c0001t0006g0218 a0001c0001t0006g0258 a0001c0001t0006g0263 a0001c0001t0006g0274 a0001c0001t0006g0278 a0001c0001t0010g0012 a0001c0001t0010g0229 a0001c0001t0010g0243 a0001c0001t0027g0160 a0001c0001t0028g0053 a0001c0001t0030g0016 a0001c0001t0031g0224	57	320	0.1781	9	c.385 others(24): Show c.385-418_385-410dupAAAGAAAAA	RGS5	ENSG00000143248.13	transcript	ENST00000313961.10	protein_coding	4/4			chr1	TogoVar
RGS5_chr1_163137299_163207916	163147926	T T	TCTTTTTT others(2): Show TCTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03540.hp2 others(1): Show HG02896.hp2 HG02897.hp1 HG03540.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0023 a0001c0001t0009g0031 a0001c0001t0009g0042 others(1): Show a0001c0001t0009g0023 a0001c0001t0009g0031 a0001c0001t0009g0042 a0001c0001t0009g0043	4	320	0.0125	9	c.385 others(24): Show c.385-424_385-423insGAAAAAAAG	RGS5	ENSG00000143248.13	transcript	ENST00000313961.10	protein_coding	4/4			chr1	TogoVar
RGS5_chr1_163137299_163207916	163180688	T T	TTTTTTTT others(2): Show TTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02074.hp1 HG02083.hp1 others(7): Show HG02040.hp2 HG02074.hp1 HG02083.hp1 NA18946.hp1 NA18947.hp2 NA18957.hp2 NA18998.hp1 NA19002.hp1 NA19009.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0011 a0001c0001t0001g0220 a0001c0001t0002g0219 others(6): Show a0001c0001t0001g0011 a0001c0001t0001g0220 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0003g0121 a0001c0001t0004g0090 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0226	10	320	0.0313	9	c.45- others(26): Show c.45-12321_45-12320insCAAAAAAAA	RGS5	ENSG00000143248.13	transcript	ENST00000313961.10	protein_coding	1/4			chr1	TogoVar
RGS6_chr14_71927429_72571530	71948738	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03579.hp2 HG03688.hp2 others(1): Show HG03041.hp1 HG03579.hp2 HG03688.hp2 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0002t0015	a0001c0001t0001g0082 a0001c0001t0004g0076 a0001c0001t0005g0088 others(1): Show a0001c0001t0001g0082 a0001c0001t0004g0076 a0001c0001t0005g0088 a0001c0002t0015g0081	4	51	0.0784	9	c.-21 others(28): Show c.-21+15798_-21+15799insTTTTTTTTT	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr14	TogoVar

Search by Variant

Search

Search Results