Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
RUFY1_chr5_179545554_179615012	179580241	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	376	0.0027	20	c.891 others(35): Show c.891-705_891-704insGTGTGTGTGTGTGTATATAT	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RUFY2_chr10_68338408_68412277	68366759	T T	TATATATA others(13): Show TATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG01361.hp1 others(14): Show HG00438.hp2 HG00621.hp2 HG01361.hp1 HG01978.hp2 HG02148.hp1 HG02300.hp1 HG02738.hp2 HG03239.hp2 HG03704.hp2 HG03834.hp2 HG04204.hp1 NA18747.hp2 NA18941.hp1 NA18978.hp2 NA18989.hp1 NA19054.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0040 a0001c0002t0002 a0001c0002t0040	a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0209 others(14): Show a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0209 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0230 a0001c0002t0002g0236 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0243 a0001c0002t0002g0245 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0040g0208	17	276	0.0616	20	c.132 others(39): Show c.1326-2647_1326-2646insTTATATATATATATATATAT	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding	13/17			chr10	TogoVar
RUFY2_chr10_68338408_68412277	68376489	T T	TATATATA others(13): Show TATATATATATATATATATTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03239.hp1 NA18966.hp1 HG02615.hp2 HG03239.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0131 a0001c0001t0001g0145 a0001c0001t0018g0068 a0001c0001t0001g0131 a0001c0001t0001g0145 a0001c0001t0018g0068	3	276	0.0109	20	c.132 others(37): Show c.1325+363_1325+364insGAATATATATATATATATAT	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding	13/17			chr10	TogoVar
RUFY2_chr10_68338408_68412277	68412224	G G	GGTTTTTG others(13): Show GGTTTTTGTTTTTGTTTTTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00621.hp2 others(41): Show HG00408.hp2 HG00438.hp2 HG00621.hp2 HG01123.hp1 HG01361.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02148.hp1 HG02293.hp2 HG02300.hp1 HG02735.hp2 HG02738.hp2 HG03017.hp2 HG03239.hp2 HG03654.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18747.hp2 NA18942.hp1 NA18946.hp2 NA18948.hp1 NA18956.hp2 NA18961.hp1 NA18966.hp2 NA18969.hp2 NA18973.hp2 NA18977.hp1 NA18978.hp2 NA18988.hp2 NA18995.hp1 NA18999.hp2 NA19003.hp2 NA19005.hp1 NA19054.hp2 NA19060.hp1 NA19066.hp1 NA19077.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0040 a0001c0002t0042 a0001c0002t0002 a0001c0002t0040 a0001c0002t0042	a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0206 others(41): Show a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0210 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0040g0208 a0001c0002t0042g0238	44	276	0.1594	20	c.-50 others(31): Show c.-5036_-5035insACAAAAACAAAAACAAAAAC	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding		4948		chr10	TogoVar
RUFY2_chr10_68338408_68412277	68412224	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTGTTTTTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG03209.hp1 HG00639.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0021 a0001c0002t0041 a0001c0001t0021 a0001c0002t0041	a0001c0001t0021g0201 a0001c0002t0041g0202 a0001c0001t0021g0201 a0001c0002t0041g0202	2	276	0.0073	20	c.-50 others(31): Show c.-5036_-5035insACAAAAACAAAAAAAAAAAA	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding		4948		chr10	TogoVar
RUFY2_chr10_68338408_68412277	68412229	T T	TTTTTTTT others(13): Show TTTTTTTTGTTTTTGTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 NA18906.hp1 HG03579.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0257 a0001c0001t0022g0258 a0001c0001t0022g0257 a0001c0001t0022g0258	2	276	0.0073	20	c.-50 others(31): Show c.-5041_-5040insCAAAAACAAAAACAAAAAAA	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding		4953		chr10	TogoVar
RUFY3_chr4_70716964_70813619	70774644	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0016 a0001c0001t0025g0016	1	254	0.0039	20	c.759 others(35): Show c.759-523_759-522insAAAATATATATATATATATA	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RUNDC3B_chr7_87623398_87837296	87652621	G G	GAGATATA others(13): Show GAGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02258.hp2 HG02622.hp2 others(2): Show HG01081.hp2 HG02258.hp2 HG02622.hp2 HG02818.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 others(1): Show a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0077	a0001c0001t0013g0149 a0001c0001t0017g0173 a0001c0001t0018g0174 others(2): Show a0001c0001t0013g0149 a0001c0001t0017g0173 a0001c0001t0018g0174 a0001c0001t0018g0175 a0001c0001t0077g0169	5	202	0.0248	20	c.238 others(37): Show c.238+1685_238+1686insGATATATATATATATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87652621	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03209.hp1 HG03209.hp2 others(3): Show HG02572.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0047 others(2): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0047 a0001c0001t0066 a0001c0001t0075	a0001c0001t0002g0163 a0001c0001t0002g0176 a0001c0001t0017g0170 others(3): Show a0001c0001t0002g0163 a0001c0001t0002g0176 a0001c0001t0017g0170 a0001c0001t0047g0012 a0001c0001t0066g0013 a0001c0001t0075g0006	6	202	0.0297	20	c.238 others(37): Show c.238+1690_238+1709dupTATATATATATATATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNX1T1_chr8_91949972_92108385	91970043	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02572.hp1 HG02895.hp1 others(1): Show HG02257.hp1 HG02572.hp1 HG02895.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0035 a0001c0001t0037 others(1): Show a0001c0001t0006 a0001c0001t0035 a0001c0001t0037 a0001c0001t0054	a0001c0001t0006g0052 a0001c0001t0035g0054 a0001c0001t0037g0058 others(1): Show a0001c0001t0006g0052 a0001c0001t0035g0054 a0001c0001t0037g0058 a0001c0001t0054g0055	4	132	0.0303	20	c.153 others(37): Show c.1539+614_1539+615insCACACACAACACACACACAC	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	11/11			chr8	TogoVar
RUNX1T1_chr8_91949972_92108385	92005985	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02647.hp1 HG01109.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0064 a0001c0001t0041 a0001c0001t0064	a0001c0001t0041g0127 a0001c0001t0064g0019 a0001c0001t0041g0127 a0001c0001t0064g0019	2	132	0.0152	20	c.559 others(35): Show c.559-708_559-689dupGTGTGTGTGTGTGTGTGTGT	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	5/11			chr8	TogoVar
RUNX1T1_chr8_91949972_92108385	92038046	C C	CTTTATTT others(13): Show CTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01891.hp2 HG02055.hp1 others(5): Show HG01070.hp1 HG01891.hp2 HG02055.hp1 HG02486.hp2 HG02922.hp2 HG03041.hp1 HG03098.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0010 a0001c0001t0031 a0001c0001t0051 others(4): Show a0001c0001t0010 a0001c0001t0031 a0001c0001t0051 a0001c0002t0025 a0001c0002t0078 a0001c0004t0027 a0001c0005t0063	a0001c0001t0010g0132 a0001c0001t0031g0006 a0001c0001t0051g0027 others(5): Show a0001c0001t0010g0132 a0001c0001t0031g0006 a0001c0001t0051g0027 a0001c0002t0025g0042 a0001c0002t0025g0108 a0001c0002t0078g0094 a0001c0004t0027g0002 a0001c0005t0063g0131	8	132	0.0606	20	c.89- others(37): Show c.89-20703_89-20684dupTAAATAAATAAATAAATAAA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1_chr21_34782801_35054302	34909588	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	170	0.0059	20	c.59- others(37): Show c.59-16645_59-16626dupTTTTTTTTTTTTTTTTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34930270	G G	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	170	0.0059	20	c.59- others(37): Show c.59-37308_59-37307insTATATATATATATATACACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34930270	G G	GTGTGTGT others(13): Show GTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18906.hp2 HG02886.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0105 a0001c0002t0003g0145 a0001c0001t0001g0105 a0001c0002t0003g0145	2	170	0.0118	20	c.59- others(37): Show c.59-37308_59-37307insTATATATATATATACACACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34967319	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01934.hp2 HG01978.hp2 others(6): Show HG01433.hp2 HG01934.hp2 HG01978.hp2 HG02165.hp2 HG02602.hp2 HG02738.hp2 HG03239.hp2 NA18978.hp2 NA19011.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0003c0004t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 others(6): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0146 a0001c0001t0002g0090 a0001c0001t0008g0049 a0001c0001t0012g0085 a0001c0001t0016g0144 a0003c0004t0001g0164	9	170	0.0529	20	c.59- others(37): Show c.59-74376_59-74357dupTTTTTTTTTTTTTTTTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34982397	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	170	0.0059	20	c.58+ others(37): Show c.58+66425_58+66444dupACACACACACACACACACAC	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX2_chr6_45323330_45556082	45485691	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0035 a0001c0001t0014g0035	1	178	0.0056	20	c.686 others(37): Show c.686-6249_686-6248insATATATATATATATATATAT	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
RUNX2_chr6_45323330_45556082	45485693	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	178	0.0056	20	c.686 others(37): Show c.686-6247_686-6246insATATATATATATATATATAT	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
RUNX2_chr6_45323330_45556082	45485695	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0075 a0001c0001t0006g0075	1	178	0.0056	20	c.686 others(37): Show c.686-6245_686-6244insATATATATATATATATATAT	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
RUSC2_chr9_35485111_35566895	35513903	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0304 a0001c0012t0001g0304	1	322	0.0031	20	c.-93 others(39): Show c.-93+23748_-93+23767dupATATATATATATATATATAT	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
RUSC2_chr9_35485111_35566895	35516022	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	322	0.0031	20	c.-93 others(39): Show c.-93+25851_-93+25852insAAAAAAAAAAAAAAAAAAGA	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
RUSC2_chr9_35485111_35566895	35556530	A A	ACCTCTAA others(13): Show ACCTCTAAGTGCTGGCTGGGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(195): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18989.hp1 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19057.hp1 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19076.hp2 NA19077.hp1 NA19081.hp1 NA19082.hp2 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0008	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0004c0007 a0005c0006 a0006c0017 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0002t0003 a0001c0005t0001 a0001c0005t0002 a0002c0003t0004 a0004c0007t0002 a0005c0006t0001 a0006c0017t0003 a0008c0011t0002	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 others(186): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0231 a0001c0001t0001g0252 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0278 a0001c0001t0001g0291 a0001c0001t0001g0298 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0093 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0255 a0001c0001t0003g0002 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0199 a0001c0001t0003g0311 a0001c0001t0006g0193 a0001c0001t0006g0200 a0001c0001t0007g0028 a0001c0001t0007g0039 a0001c0001t0009g0181 a0001c0001t0010g0147 a0001c0001t0011g0248 a0001c0001t0012g0251 a0001c0002t0001g0029 a0001c0002t0003g0024 a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0003g0092 a0001c0002t0003g0095 a0001c0002t0003g0104 a0001c0005t0001g0055 a0001c0005t0001g0056 a0001c0005t0002g0048 a0002c0003t0004g0126 a0002c0003t0004g0128 a0004c0007t0002g0045 a0004c0007t0002g0046 a0005c0006t0001g0133 a0005c0006t0001g0134 a0006c0017t0003g0016 a0008c0011t0002g0250	198	322	0.6149	20	c.298 others(36): Show c.2983+85_2983+104dupTCTAAGTGCTGGCTGGGCCC	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
RUVBL2_chr19_48988887_49020970	49012843	C C	CCACACAC others(13): Show CCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	412	0.0024	20	c.100 others(39): Show c.1001+1555_1001+1574dupACACACACACACACACACAC	RUVBL2	ENSG00000183207.15	transcript	ENST00000595090.6	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
RWDD4_chr4_183634635_183664185	183643415	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA19003.hp2 NA19043.hp2 others(2): Show NA18977.hp2 NA19003.hp2 NA19043.hp2 NA19064.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0004 a0001c0001t0001 a0001c0003t0001 a0002c0002t0004	a0001c0001t0001g0118 a0001c0001t0001g0168 a0001c0001t0001g0407 others(2): Show a0001c0001t0001g0118 a0001c0001t0001g0168 a0001c0001t0001g0407 a0001c0003t0001g0273 a0002c0002t0004g0311	5	480	0.0104	20	c.535 others(37): Show c.535-1967_535-1948dupTTTTTTTTTTTTTTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158517074	T T	TAGATAGA others(13): Show TAGATAGATAGATAGATAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00738.hp2 others(17): Show HG00280.hp1 HG00639.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG02055.hp2 HG02148.hp2 HG02280.hp2 HG02630.hp2 HG02647.hp1 HG02735.hp1 HG02886.hp2 HG02896.hp1 HG02970.hp2 HG03041.hp1 HG03139.hp1 NA18984.hp1 NA18986.hp1 NA19009.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0070 others(17): Show a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0070 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0003g0028 a0001c0001t0003g0034 a0001c0001t0003g0035	20	210	0.0952	20	c.-49 others(31): Show c.-4903_-4902insAGATAGATAGATAGATAGAC	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding		4807		chr4	TogoVar
RXFP1_chr4_158516882_158658372	158527564	A A	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	210	0.0048	20	c.49+ others(35): Show c.49+5540_49+5541insAAAAAAAATATATATATATA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158527564	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18906.hp2 HG02922.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0122 a0001c0001t0001g0123	2	210	0.0095	20	c.49+ others(35): Show c.49+5540_49+5541insAATATATATATATATATATA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158541350	G G	GCACACAC others(13): Show GCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02280.hp2 others(2): Show HG02109.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0200 others(2): Show a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0200 a0001c0001t0002g0112 a0001c0001t0002g0181	5	210	0.0238	20	c.49+ others(37): Show c.49+19338_49+19357dupCACACACACACACACACACA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01255.hp2 HG01123.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0192 a0001c0001t0001g0091 a0001c0001t0001g0192	2	210	0.0095	20	c.49+ others(37): Show c.49+20085_49+20086insATATATATATATATATTTTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00639.hp2 others(10): Show HG00280.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01168.hp2 HG01361.hp2 HG01884.hp2 HG01943.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0069 a0001c0001t0001g0098 others(10): Show a0001c0001t0001g0014 a0001c0001t0001g0069 a0001c0001t0001g0098 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150	13	210	0.0619	20	c.49+ others(37): Show c.49+20085_49+20086insATATATATATATATTTTTTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0207 a0001c0001t0004g0207	1	210	0.0048	20	c.49+ others(37): Show c.49+20085_49+20086insATATATATATTTTTTTTTTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158626144	A A	ATAGATAG others(13): Show ATAGATAGATAGATAGATAGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA20129.hp1 NA21309.hp1 HG02886.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0137 a0001c0001t0001g0156 a0001c0001t0002g0181 a0001c0001t0001g0137 a0001c0001t0001g0156 a0001c0001t0002g0181	3	210	0.0143	20	c.756 others(35): Show c.756-657_756-656insTTAGATAGATAGATAGATAG	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158626148	A A	ATAGATAG others(13): Show ATAGATAGATAGATAGATAGT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01517.hp2 HG02055.hp1 others(3): Show HG01099.hp2 HG01517.hp2 HG02055.hp1 HG02602.hp1 HG03195.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0103 a0001c0001t0001g0116 others(3): Show a0001c0001t0001g0073 a0001c0001t0001g0103 a0001c0001t0001g0116 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0164	6	210	0.0286	20	c.756 others(35): Show c.756-653_756-652insTTAGATAGATAGATAGATAG	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158650432	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	210	0.0048	20	c.197 others(39): Show c.1976-1306_1976-1305insTATATATATATATATATATA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP2_chr13_31734526_31808389	31759375	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01106.hp1 HG01192.hp1 others(18): Show HG00544.hp1 HG01106.hp1 HG01192.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp1 HG03490.hp2 HG03491.hp1 NA18950.hp2 NA18954.hp1 NA18974.hp2 NA18985.hp1 NA18991.hp2 NA19007.hp1 NA19010.hp1 NA19066.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 others(18): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0219 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0271 a0001c0001t0002g0230 a0001c0002t0002g0381 a0001c0002t0002g0382 a0001c0004t0001g0078 a0001c0004t0001g0126	21	386	0.0544	20	c.241 others(37): Show c.241+1023_241+1042dupAAGAAAGAAAGAAAGAAAGA	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
RXFP2_chr13_31734526_31808389	31776061	C C	CTTCTTTC others(13): Show CTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0124 a0002c0012t0002g0124	1	386	0.0026	20	c.641 others(35): Show c.641+691_641+692insTTTCTTTCTTTCTTTCTTTC	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
RXFP2_chr13_31734526_31808389	31776102	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18522.hp2 NA18986.hp2 HG00544.hp2 NA18522.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0252 a0001c0002t0002g0277 a0001c0002t0002g0055 a0001c0002t0002g0252 a0001c0002t0002g0277	3	386	0.0078	20	c.641 others(35): Show c.641+735_641+754dupTTCTTTCTTTCTTTCTTTCT	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
RXFP3_chr5_33931386_33943918	33935020	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG02886.hp2 others(9): Show HG00639.hp2 HG01074.hp1 HG02886.hp2 HG03654.hp1 NA18957.hp2 NA18964.hp2 NA18982.hp1 NA18989.hp2 NA19000.hp1 NA19058.hp2 NA19077.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0001g0000 a0001c0001t0002g0000	12	445	0.0270	20	c.-17 others(31): Show c.-1721_-1720insTTTCTTTCTTTCTTTCTTTC	RXFP3	ENSG00000182631.7	transcript	ENST00000330120.5	protein_coding		1365		chr5	TogoVar
RXRA_chr9_134321455_134445585	134337312	T T	TCATCTGT others(13): Show TCATCTGTCTGTCCGTCCGTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0101 a0001c0001t0010g0101	1	232	0.0043	20	c.28+ others(37): Show c.28+10658_28+10677dupTGTCTGTCCGTCCGTCCATC	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRA_chr9_134321455_134445585	134349966	G G	GCTGGGAC others(13): Show GCTGGGACCCCTTCCCCAAGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0172 a0001c0001t0024g0172	1	232	0.0043	20	c.28+ others(37): Show c.28+23309_28+23328dupTGGGACCCCTTCCCCAAGCC	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRA_chr9_134321455_134445585	134388286	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(120): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01346.hp2 HG01433.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG02040.hp1 HG02040.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18947.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18964.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18995.hp1 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19068.hp2 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp1 NA19090.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0021 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0001t0054 a0001c0001t0058 a0001c0001t0062	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 others(117): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0146 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0195 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0002g0001 a0001c0001t0002g0031 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0064 a0001c0001t0002g0072 a0001c0001t0002g0081 a0001c0001t0002g0192 a0001c0001t0002g0198 a0001c0001t0003g0025 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0070 a0001c0001t0003g0073 a0001c0001t0003g0080 a0001c0001t0003g0142 a0001c0001t0003g0174 a0001c0001t0004g0133 a0001c0001t0004g0149 a0001c0001t0004g0202 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0209 a0001c0001t0005g0004 a0001c0001t0005g0020 a0001c0001t0005g0144 a0001c0001t0005g0165 a0001c0001t0005g0176 a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0190 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0006g0021 a0001c0001t0006g0177 a0001c0001t0006g0183 a0001c0001t0007g0090 a0001c0001t0007g0108 a0001c0001t0007g0119 a0001c0001t0007g0203 a0001c0001t0008g0141 a0001c0001t0009g0098 a0001c0001t0009g0136 a0001c0001t0009g0137 a0001c0001t0010g0122 a0001c0001t0010g0163 a0001c0001t0011g0099 a0001c0001t0011g0121 a0001c0001t0016g0059 a0001c0001t0016g0060 a0001c0001t0016g0187 a0001c0001t0021g0182 a0001c0001t0023g0148 a0001c0001t0023g0150 a0001c0001t0027g0086 a0001c0001t0028g0109 a0001c0001t0029g0026 a0001c0001t0030g0034 a0001c0001t0031g0066 a0001c0001t0032g0017 a0001c0001t0033g0171 a0001c0001t0034g0011 a0001c0001t0036g0201 a0001c0001t0037g0063 a0001c0001t0038g0074 a0001c0001t0043g0004 a0001c0001t0044g0135 a0001c0001t0046g0152 a0001c0001t0048g0024 a0001c0001t0049g0042 a0001c0001t0050g0043 a0001c0001t0052g0023 a0001c0001t0054g0006 a0001c0001t0058g0054 a0001c0001t0062g0156	123	232	0.5302	20	c.29- others(37): Show c.29-13339_29-13338insTGTGTGTGTGTGAGTGTGTG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRA_chr9_134321455_134445585	134422133	A A	ACTCCTGG others(13): Show ACTCCTGGGACACACTTCCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG03139.hp2 others(1): Show HG00099.hp1 HG00099.hp2 HG03139.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0038 a0001c0001t0001 a0001c0001t0022 a0001c0001t0038	a0001c0001t0001g0134 a0001c0001t0001g0178 a0001c0001t0022g0138 others(1): Show a0001c0001t0001g0134 a0001c0001t0001g0178 a0001c0001t0022g0138 a0001c0001t0038g0074	4	232	0.0172	20	c.910 others(35): Show c.910+373_910+392dupTGGGACACACTTCCCCCTCC	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRG_chr1_165395922_165450126	165415957	T T	TGACGTTG others(13): Show TGACGTTGTTCGTGCTGTTTA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0141 a0001c0002t0005g0141	1	412	0.0024	20	c.622 others(37): Show c.622+1083_622+1084insTAAACAGCACGAACAACGTC	RXRG	ENSG00000143171.13	transcript	ENST00000359842.10	protein_coding	4/9			chr1	TogoVar
RYR1_chr19_38428691_38592564	38450773	C C	CAATAAAT others(13): Show CAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG04204.hp1 NA20300.hp2 HG03209.hp1 HG04204.hp1 NA20300.hp2	a0001 a0006 a0021 a0001 a0006 a0021	a0001c0110 a0006c0088 a0021c0086 a0001c0110 a0006c0088 a0021c0086	a0001c0110t0001 a0006c0088t0001 a0021c0086t0001 a0001c0110t0001 a0006c0088t0001 a0021c0086t0001	a0001c0110t0001g0157 a0006c0088t0001g0053 a0021c0086t0001g0019 a0001c0110t0001g0157 a0006c0088t0001g0053 a0021c0086t0001g0019	3	218	0.0138	20	c.112 others(37): Show c.1123-974_1123-973insATAAATAAATAAATAAATAA	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	11/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38520693	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0006 a0006	a0006c0107 a0006c0107	a0006c0107t0001 a0006c0107t0001	a0006c0107t0001g0042 a0006c0107t0001g0042	1	218	0.0046	20	c.102 others(41): Show c.10259+1246_10259+1265dupAAAAAAAAAAAAAAAAAAAA	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	67/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38590394	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0025 a0025	a0025c0060 a0025c0060	a0025c0060t0001 a0025c0060t0001	a0025c0060t0001g0112 a0025c0060t0001g0112	1	218	0.0046	20	c.29 others(31): Show c.2974_*2975insAAAAAAAAAAATATATATAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2831		chr19	TogoVar
RYR1_chr19_38428691_38592564	38590394	A A	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0113 a0001c0035t0001g0113	1	218	0.0046	20	c.29 others(31): Show c.2974_*2975insAAAAAAAAATATATATATAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2831		chr19	TogoVar
RYR2_chr1_237037184_237838988	237061211	T T	TTCTATCT others(13): Show TTCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0016 a0001c0003t0004g0016	1	100	0.0100	20	c.48+ others(37): Show c.48+18665_48+18684dupTATCTATCTATCTATCTATC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237082524	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01169.hp2 HG02055.hp2 HG01109.hp2 HG01169.hp2 HG02055.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0022 a0002c0009 a0001c0001 a0001c0022 a0002c0009	a0001c0001t0015 a0001c0022t0014 a0002c0009t0002 a0001c0001t0015 a0001c0022t0014 a0002c0009t0002	a0001c0001t0015g0069 a0001c0022t0014g0066 a0002c0009t0002g0079 a0001c0001t0015g0069 a0001c0022t0014g0066 a0002c0009t0002g0079	3	100	0.0300	20	c.48+ others(37): Show c.48+39969_48+39988dupTATATATATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar

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