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
LIMD1_chr3_45589751_45691341	45686663	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG02257.hp1 HG00323.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0032 a0001c0002t0009 a0001c0001t0032 a0001c0002t0009	a0001c0001t0032g0193 a0001c0002t0009g0318 a0001c0001t0032g0193 a0001c0002t0009g0318	2	57	0.0351	25	c.96 others(36): Show c.9604_*9605insTATATATATATATATATATTTTTTT	LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding		323		chr3	TogoVar
LIMD1_chr3_45589751_45691341	45686663	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 NA18995.hp1 HG03516.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0020 a0001c0005t0029 a0001c0001t0020 a0001c0005t0029	a0001c0001t0020g0067 a0001c0005t0029g0155 a0001c0001t0020g0067 a0001c0005t0029g0155	2	57	0.0351	25	c.96 others(36): Show c.9604_*9605insTATATATATATATATATTTTTTTTT	LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding		323		chr3	TogoVar
LIMD1_chr3_45589751_45691341	45686663	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02809.hp1 HG03139.hp1 others(1): Show HG02717.hp1 HG02809.hp1 HG03139.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0001t0084 a0001c0002t0007 others(1): Show a0001c0001t0013 a0001c0001t0084 a0001c0002t0007 a0001c0002t0050	a0001c0001t0013g0025 a0001c0001t0084g0024 a0001c0002t0007g0008 others(1): Show a0001c0001t0013g0025 a0001c0001t0084g0024 a0001c0002t0007g0008 a0001c0002t0050g0006	4	59	0.0678	25	c.96 others(36): Show c.9604_*9605insTATATATATATATATTTTTTTTTTT	LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding		323		chr3	TogoVar
LIMD1_chr3_45589751_45691341	45686663	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0012 a0001c0002t0007g0012	1	56	0.0179	25	c.96 others(36): Show c.9604_*9605insTATATATATATATTTTTTTTTTTTT	LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding		323		chr3	TogoVar
LIMK1_chr7_74078804_74127525	74102484	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00741.hp1 HG01069.hp1 others(25): Show HG00558.hp2 HG00741.hp1 HG01069.hp1 HG01255.hp1 HG01361.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG03139.hp2 HG03540.hp1 HG03710.hp2 HG04184.hp2 HG04204.hp1 NA18747.hp1 NA18906.hp2 NA18955.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18984.hp1 NA18994.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0014 a0002c0002t0001 a0001c0001t0001 a0001c0001t0014 a0002c0002t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0055 others(23): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0078 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0125 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0151 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0014g0101 a0002c0002t0001g0214 a0002c0002t0001g0221	28	84	0.3333	25	c.608 others(42): Show c.608+3264_608+3265insTTTTTTTTTTTTTTTTTTTTTTTTT	LIMK1	ENSG00000106683.15	transcript	ENST00000336180.7	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
LIMS1_chr2_108529470_108692246	108600891	T T	TTCTTCTC others(18): Show TTCTTCTCTTCTCTTCTCTTCTCTTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02647.hp1 HG02895.hp2 others(2): Show HG02451.hp1 HG02647.hp1 HG02895.hp2 HG03098.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0017 a0001c0001t0003 a0001c0001t0015 a0001c0001t0017	a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0206 others(2): Show a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0206 a0001c0001t0015g0207 a0001c0001t0017g0158	5	101	0.0495	25	c.33- others(42): Show c.33-58694_33-58670dupCTCTTCTCTTCTCTTCTCTTCTCTT	LIMS1	ENSG00000169756.17	transcript	ENST00000544547.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
LIMS1_chr2_108529470_108692246	108600891	T T	TTCTTTTC others(18): Show TTCTTTTCTTCTCTTCTCTTCTCTTC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0018	a0002c0003t0018g0005 a0002c0003t0018g0005	1	97	0.0103	25	c.33- others(42): Show c.33-58710_33-58709insTTCTTCTCTTCTCTTCTCTTCTCTT	LIMS1	ENSG00000169756.17	transcript	ENST00000544547.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
LIMS2_chr2_127633426_127680530	127648967	G G	GGGAGGGG others(18): Show GGGAGGGGGGAGGGGGGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02622.hp1 HG02970.hp2 HG02109.hp1 HG02622.hp1 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0010 a0001c0002 a0001c0003 a0001c0010	a0001c0002t0015 a0001c0003t0010 a0001c0010t0019 a0001c0002t0015 a0001c0003t0010 a0001c0010t0019	a0001c0002t0015g0238 a0001c0003t0010g0135 a0001c0010t0019g0147 a0001c0002t0015g0238 a0001c0003t0010g0135 a0001c0010t0019g0147	3	337	0.0089	25	c.359 others(42): Show c.359+5456_359+5457insTCCCCTCCCCCCCCCTCCCCCCTCC	LIMS2	ENSG00000072163.20	transcript	ENST00000355119.9	protein_coding	4/9			chr2	TogoVar
LIMS2_chr2_127633426_127680530	127648967	G G	GGGGAGGG others(18): Show GGGGAGGGGGGAGGGGGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0148 a0001c0003t0011g0148	1	335	0.0030	25	c.359 others(42): Show c.359+5456_359+5457insTCCCCTCCCCCCCCTCCCCCCTCCC	LIMS2	ENSG00000072163.20	transcript	ENST00000355119.9	protein_coding	4/9			chr2	TogoVar
LIN52_chr14_74079956_74206493	74130270	A A	ATTTTTTG others(18): Show ATTTTTTGTTTTTTTTTTTGTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18950.hp1 HG02027.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0074 a0001c0001t0004g0036 a0001c0001t0003g0074 a0001c0001t0004g0036	2	307	0.0065	25	c.283 others(44): Show c.283+29039_283+29040insTTTTTTTTTTTGTTTTTTTTTTTTG	LIN52	ENSG00000205659.12	transcript	ENST00000555028.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
LIN52_chr14_74079956_74206493	74130270	A A	ATTTTTTG others(18): Show ATTTTTTGTTTTTTTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	1	306	0.0033	25	c.283 others(44): Show c.283+29039_283+29040insTTTTTTTTTTTTGTTTTTTTTTTTG	LIN52	ENSG00000205659.12	transcript	ENST00000555028.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
LIN52_chr14_74079956_74206493	74130277	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTGTTTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01928.hp1 HG02523.hp1 others(1): Show HG00438.hp2 HG01928.hp1 HG02523.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0019 a0001c0001t0004g0044 a0001c0001t0004g0057 others(1): Show a0001c0001t0003g0019 a0001c0001t0004g0044 a0001c0001t0004g0057 a0001c0001t0004g0063	4	329	0.0122	25	c.283 others(44): Show c.283+29039_283+29040insTTTTTTTTTTTGTTTTTTTTTTTGT	LIN52	ENSG00000205659.12	transcript	ENST00000555028.7	protein_coding	5/5			chr14	TogoVar
LIN54_chr4_82919603_83015823	82955369	A A	AATAACAT others(18): Show AATAACATAACATAACATAACATAAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	123	0.0081	25	c.952 others(42): Show c.952-8920_952-8896dupGTTATGTTATGTTATGTTATGTTAT	LIN54	ENSG00000189308.11	transcript	ENST00000340417.8	protein_coding	4/12			chr4	TogoVar
LIN54_chr4_82919603_83015823	83001858	A A	AAAAGGAA others(18): Show AAAAGGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01081.hp1 HG01516.hp2 others(8): Show HG00609.hp2 HG01081.hp1 HG01516.hp2 HG02004.hp2 HG02129.hp2 HG03098.hp1 NA18956.hp2 NA18966.hp2 NA18967.hp2 NA19011.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0001 a0001c0001t0001 a0002c0006t0001	a0001c0001t0001g0025 a0001c0001t0001g0043 a0001c0001t0001g0044 others(8): Show a0001c0001t0001g0025 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0070 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0127 a0002c0006t0001g0046	11	211	0.0521	25	c.-33 others(42): Show c.-33+8625_-33+8626insCTTTCTTTCTTTCTTTCTTTCCTTT	LIN54	ENSG00000189308.11	transcript	ENST00000340417.8	protein_coding	1/12			chr4	TogoVar
LIN7A_chr12_80787520_80942934	80882287	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG01943.hp1 others(25): Show HG00544.hp2 HG00558.hp2 HG01943.hp1 HG01978.hp2 HG02148.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp2 HG02647.hp1 HG02723.hp2 HG02922.hp1 HG03834.hp1 HG04184.hp1 HG04204.hp2 NA18944.hp2 NA18945.hp1 NA18969.hp2 NA18984.hp1 NA18986.hp1 NA19011.hp1 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19080.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0024	a0001c0001t0001g0025 a0001c0001t0001g0050 a0001c0001t0001g0055 others(25): Show a0001c0001t0001g0025 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0146 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0001g0221 a0001c0001t0001g0234 a0001c0001t0002g0104 a0001c0001t0003g0215 a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0024g0216	28	170	0.1647	25	c.201 others(42): Show c.201+6963_201+6964insAAAAAAAAAAAAAAAAAAAAAAAAA	LIN7A	ENSG00000111052.8	transcript	ENST00000552864.6	protein_coding	2/5			chr12	TogoVar
LINGO2_chr9_27932617_29218601	28932107	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02109.hp2 HG02451.hp2 others(2): Show HG00597.hp2 HG02109.hp2 HG02451.hp2 HG02809.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0018 a0001c0001t0035 others(2): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0035 a0001c0001t0036 a0001c0003t0009	a0001c0001t0001g0041 a0001c0001t0018g0014 a0001c0001t0035g0060 others(2): Show a0001c0001t0001g0041 a0001c0001t0018g0014 a0001c0001t0035g0060 a0001c0001t0036g0062 a0001c0003t0009g0035	5	29	0.1724	25	c.-39 others(46): Show c.-395+15686_-395+15710dupATTTTATTTTATTTTATTTTATTT T	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	29130752	A A	AGGTACTT others(18): Show AGGTACTTGTTAAAACATGGAGATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0035 a0001c0003t0009g0035	1	62	0.0161	25	c.-49 others(46): Show c.-492+82169_-492+82170insATATCTCCATGTTTTAACAAGTAC C	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	1/6			chr9	TogoVar
LIPA_chr10_89208572_89256775	89213292	T T	TAAAGAAA others(18): Show TAAAGAAAAGAAAAGAAAAGAAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp2 HG02723.hp1 others(3): Show HG01099.hp1 HG01099.hp2 HG02723.hp1 NA18990.hp1 NA19007.hp1 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0001g0143 others(3): Show a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0001g0143 a0001c0001t0001g0195 a0001c0001t0001g0253 a0002c0002t0001g0098	6	64	0.0938	25	c.15 others(36): Show c.1535_*1536insTCTTTTCTTTTCTTTTCTTTTCTTT	LIPA	ENSG00000107798.18	transcript	ENST00000336233.10	protein_coding		279		chr10	TogoVar
LIPC_chr15_58426991_58574844	58496743	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0254 a0002c0004t0002g0254	1	11	0.0909	25	c.89- others(42): Show c.89-41573_89-41572insAAAAAAAAAAAAAAAAAAAAAAAAA	LIPC	ENSG00000166035.11	transcript	ENST00000299022.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
LIPG_chr18_49557057_49604185	49558431	T T	TCTCTCTC others(18): Show TCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01943.hp1 HG02723.hp2 others(2): Show HG01192.hp2 HG01943.hp1 HG02723.hp2 HG02895.hp1 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0001c0001t0015 a0001c0001t0078 others(2): Show a0001c0001t0010 a0001c0001t0015 a0001c0001t0078 a0002c0002t0005 a0002c0002t0014	a0001c0001t0010g0149 a0001c0001t0015g0044 a0001c0001t0078g0275 others(2): Show a0001c0001t0010g0149 a0001c0001t0015g0044 a0001c0001t0078g0275 a0002c0002t0005g0001 a0002c0002t0014g0316	5	118	0.0424	25	c.-38 others(36): Show c.-3878_-3877insCTCTCTCTCTCTCTCTCTCTCTCTC	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding		3625		chr18	TogoVar
LIPG_chr18_49557057_49604185	49579764	C C	CTTTCCTT others(18): Show CTTTCCTTTCCTTTCCTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01261.hp1 HG02145.hp1 others(3): Show HG01081.hp2 HG01261.hp1 HG02145.hp1 HG02630.hp2 HG03041.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0008 a0001c0001t0112 a0001c0001t0120 others(3): Show a0001c0001t0008 a0001c0001t0112 a0001c0001t0120 a0001c0003t0007 a0001c0003t0118 a0001c0005t0103	a0001c0001t0008g0198 a0001c0001t0112g0040 a0001c0001t0120g0171 others(3): Show a0001c0001t0008g0198 a0001c0001t0112g0040 a0001c0001t0120g0171 a0001c0003t0007g0189 a0001c0003t0118g0180 a0001c0005t0103g0174	6	109	0.0550	25	c.794 others(42): Show c.794-1647_794-1646insCTTTCCTTTCCTTTCTTTTCTTTTC	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LIPG_chr18_49557057_49604185	49579764	C C	CTTTCCTT others(18): Show CTTTCCTTTCCTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18906.hp2 HG02451.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0038 a0001c0001t0003g0031 a0001c0001t0003g0038	2	105	0.0190	25	c.794 others(42): Show c.794-1647_794-1646insCTTTCCTTTCTTTTCTTTTCTTTTC	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LIPG_chr18_49557057_49604185	49579764	C C	CTTTCCTT others(18): Show CTTTCCTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp2 NA18948.hp1 HG02080.hp1 HG02080.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0125 a0001c0001t0003 a0001c0001t0006 a0001c0001t0125	a0001c0001t0003g0070 a0001c0001t0006g0109 a0001c0001t0125g0075 a0001c0001t0003g0070 a0001c0001t0006g0109 a0001c0001t0125g0075	3	106	0.0283	25	c.794 others(42): Show c.794-1647_794-1646insCTTTCTTTTCTTTTCTTTTCTTTTC	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LIPG_chr18_49557057_49604185	49579764	C C	CTTTCTTT others(18): Show CTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01978.hp1 HG02129.hp2 others(1): Show HG00741.hp2 HG01978.hp1 HG02129.hp2 HG03130.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0011 a0001c0001t0013 a0003c0004t0080 a0001c0001t0011 a0001c0001t0013 a0003c0004t0080	a0001c0001t0011g0081 a0001c0001t0013g0087 a0001c0001t0013g0107 others(1): Show a0001c0001t0011g0081 a0001c0001t0013g0087 a0001c0001t0013g0107 a0003c0004t0080g0146	4	107	0.0374	25	c.794 others(42): Show c.794-1618_794-1594dupTCTTTTCTTTTCTTTTCTTTTCTTT	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LIPH_chr3_185501262_185557588	185535542	A A	AGTGGTAG others(18): Show AGTGGTAGGATTACAGGCCTGAGCCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0318 a0001c0001t0005g0318	1	356	0.0028	25	c.50- others(38): Show c.50-435_50-411dupGGGCTCAGGCCTGTAATCCTACCAC	LIPH	ENSG00000163898.10	transcript	ENST00000296252.9	protein_coding	1/9			chr3	TogoVar
LIPH_chr3_185501262_185557588	185544336	G G	GTTGTTTT others(18): Show GTTGTTTTGTTTTGTTTTGTTTTGTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18949.hp2 NA19085.hp1 HG03017.hp2 NA18949.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0059 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0001t0003g0059 a0001c0002t0001g0016 a0001c0002t0001g0017	3	302	0.0099	25	c.49+ others(40): Show c.49+8086_49+8087insAACAAAACAAAACAAAACAAAACAA	LIPH	ENSG00000163898.10	transcript	ENST00000296252.9	protein_coding	1/9			chr3	TogoVar
LIPM_chr10_88797730_88825546	88808910	C C	CATTTTAT others(18): Show CATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03492.hp2 HG03041.hp1 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0127 a0001c0005t0001g0128 a0001c0002t0001g0127 a0001c0005t0001g0128	2	32	0.0625	25	c.265 others(40): Show c.265+531_265+555dupATTTTATTTTATTTTATTTTATTTT	LIPM	ENSG00000173239.14	transcript	ENST00000404743.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
LIPM_chr10_88797730_88825546	88822544	C C	CTGCTTTT others(18): Show CTGCTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	16	0.0625	25	c.20 others(36): Show c.2043_*2044insTGCTTTTTTTTTTTTTTTTTTTTTT	LIPM	ENSG00000173239.14	transcript	ENST00000404743.9	protein_coding		1999		chr10	TogoVar
LIPM_chr10_88797730_88825546	88822544	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG03139.hp1 HG03492.hp2 others(1): Show HG00741.hp2 HG03139.hp1 HG03492.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0002t0001 a0001c0012t0001 a0001c0001t0001 a0001c0002t0001 a0001c0012t0001	a0001c0001t0001g0091 a0001c0002t0001g0001 a0001c0002t0001g0127 others(1): Show a0001c0001t0001g0091 a0001c0002t0001g0001 a0001c0002t0001g0127 a0001c0012t0001g0085	4	19	0.2105	25	c.20 others(36): Show c.2043_*2044insTTTTTTTTTTTTTTTTTTTTTTTTT	LIPM	ENSG00000173239.14	transcript	ENST00000404743.9	protein_coding		1999		chr10	TogoVar
LIPM_chr10_88797730_88825546	88823826	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0135 a0008c0011t0001g0135	1	460	0.0022	25	c.33 others(36): Show c.3325_*3326insAAAAAAAAAAAAAAAAAAAAAAAAA	LIPM	ENSG00000173239.14	transcript	ENST00000404743.9	protein_coding		3281		chr10	TogoVar
LIPM_chr10_88797730_88825546	88823827	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG02109.hp1 HG02486.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0014 a0001c0001 a0003c0014	a0001c0001t0001 a0003c0014t0001 a0001c0001t0001 a0003c0014t0001	a0001c0001t0001g0060 a0003c0014t0001g0035 a0001c0001t0001g0060 a0003c0014t0001g0035	2	43	0.0465	25	c.33 others(36): Show c.3326_*3327insAAAAAAAAAAAAAAAAAAAAAAAAA	LIPM	ENSG00000173239.14	transcript	ENST00000404743.9	protein_coding		3282		chr10	TogoVar
LLGL1_chr17_18220635_18249875	18229748	C C	CCTCCCCA others(18): Show CCTCCCCACCAACTGGAGGCATGATA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	442	0.0023	25	c.82- others(38): Show c.82-192_82-168dupCTCCCCACCAACTGGAGGCATGATA	LLGL1	ENSG00000131899.13	transcript	ENST00000316843.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
LMF1_chr16_848634_975984	857961	C C	CAGTGGTG others(18): Show CAGTGGTGTCACGGGATGGGTGTGCA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0292 a0001c0002t0011g0292	1	224	0.0045	25	c.153 others(44): Show c.1530-3256_1530-3255insTGCACACCCATCCCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858006	G G	GCAGTGGT others(18): Show GCAGTGGTGTCTCGGGATGGGTGTGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02818.hp2 HG02280.hp1 HG02818.hp2	a0005 a0005	a0005c0025 a0005c0025	a0005c0025t0007 a0005c0025t0007	a0005c0025t0007g0259 a0005c0025t0007g0294 a0005c0025t0007g0259 a0005c0025t0007g0294	2	261	0.0077	25	c.153 others(44): Show c.1530-3301_1530-3300insGCACACCCATCCCGAGACACCACTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858566	G G	GCAGTGGT others(18): Show GCAGTGGTGTCTCGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0011 a0011	a0011c0056 a0011c0056	a0011c0056t0009 a0011c0056t0009	a0011c0056t0009g0137 a0011c0056t0009g0137	1	167	0.0060	25	c.153 others(44): Show c.1530-3861_1530-3860insGCACACCCGTCCCGAGACACCACTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858683	G G	GCAGTGGT others(18): Show GCAGTGGTGTCTCGGGAGGGGTGTGC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	263	0.0038	25	c.153 others(44): Show c.1530-3978_1530-3977insGCACACCCCTCCCGAGACACCACTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858822	G G	GCAGTGGT others(18): Show GCAGTGGTGTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	275	0.0036	25	c.153 others(44): Show c.1530-4117_1530-4116insGCACACCCGTCCCGTGACACCACTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859035	G G	GCAGTGGT others(18): Show GCAGTGGTGTCACGGGACGCGTGTGC	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA20805.hp2 HG01978.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0170 a0001c0010t0001g0279 a0001c0001t0001g0170 a0001c0010t0001g0279	2	193	0.0104	25	c.153 others(44): Show c.1530-4330_1530-4329insGCACACGCGTCCCGTGACACCACTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859058	G G	GCAGTGGT others(18): Show GCAGTGGTGTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02273.hp1 HG02300.hp1 HG01081.hp1 HG02273.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0010 a0001c0001 a0001c0005 a0001c0010	a0001c0001t0001 a0001c0005t0001 a0001c0010t0001 a0001c0001t0001 a0001c0005t0001 a0001c0010t0001	a0001c0001t0001g0222 a0001c0005t0001g0113 a0001c0010t0001g0112 a0001c0001t0001g0222 a0001c0005t0001g0113 a0001c0010t0001g0112	3	279	0.0108	25	c.153 others(44): Show c.1530-4353_1530-4352insGCACACCCGTCCCGTGACACCACTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859058	G G	GCAGTGTT others(18): Show GCAGTGTTGTCTCGGGACCGGTGTGC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0023 a0023	a0023c0059 a0023c0059	a0023c0059t0002 a0023c0059t0002	a0023c0059t0002g0199 a0023c0059t0002g0199	1	277	0.0036	25	c.153 others(44): Show c.1530-4353_1530-4352insGCACACCGGTCCCGAGACAACACTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMNB1_chr5_126772136_126842020	126786113	T T	TTTTTTTT others(18): Show TTTTTTTTTGCTTTACAGACATTATC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	372	0.0027	25	c.359 others(42): Show c.359+8254_359+8255insGCTTTACAGACATTATCTTTTTTTT	LMNB1	ENSG00000113368.12	transcript	ENST00000261366.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
LMNB1_chr5_126772136_126842020	126787546	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19004.hp1 NA19003.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0178 a0001c0001t0003g0209 a0001c0001t0001g0178 a0001c0001t0003g0209	2	168	0.0119	25	c.359 others(42): Show c.359+9680_359+9681insATATATATATATATATATATATTTT	LMNB1	ENSG00000113368.12	transcript	ENST00000261366.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
LMNB1_chr5_126772136_126842020	126795933	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	114	0.0088	25	c.360 others(42): Show c.360-8827_360-8826insTTTTTTTTTTTTTTTTTTTTTTTTT	LMNB1	ENSG00000113368.12	transcript	ENST00000261366.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
LMNB1_chr5_126772136_126842020	126800981	A A	ATATATAT others(18): Show ATATATATATATATATAATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03239.hp2 HG02723.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0279 a0001c0001t0003g0251 a0001c0001t0001g0279 a0001c0001t0003g0251	2	149	0.0134	25	c.360 others(42): Show c.360-3795_360-3794insTATATATATATATATAATTTTTTTT	LMNB1	ENSG00000113368.12	transcript	ENST00000261366.10	protein_coding	1/10			chr5	TogoVar
LMO7_chr13_75631330_75864866	75632862	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01257.hp1 HG03654.hp1 others(1): Show HG01099.hp1 HG01257.hp1 HG03654.hp1 NA20129.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0003 a0010c0012 a0001c0001 a0002c0003 a0010c0012	a0001c0001t0002 a0002c0003t0005 a0010c0012t0001 a0001c0001t0002 a0002c0003t0005 a0010c0012t0001	a0001c0001t0002g0035 a0002c0003t0005g0029 a0002c0003t0005g0069 others(1): Show a0001c0001t0002g0035 a0002c0003t0005g0029 a0002c0003t0005g0069 a0010c0012t0001g0130	4	17	0.2353	25	c.-37 others(36): Show c.-3796_-3795insTTTTTTTTTTTTTTTTTTTTTTTTT	LMO7	ENSG00000136153.20	transcript	ENST00000377534.8	protein_coding		3467		chr13	TogoVar
LMO7_chr13_75631330_75864866	75663432	C C	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	125	0.0080	25	c.69+ others(42): Show c.69+26709_69+26710insCTTTCTTTCTTTCTTTCTTTCTTTT	LMO7	ENSG00000136153.20	transcript	ENST00000377534.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr13	TogoVar
LMO7_chr13_75631330_75864866	75776150	G G	GTATATAT others(18): Show GTATATATATCGGATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18949.hp1 HG02040.hp1 NA18949.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0253 a0002c0003t0001g0257 a0002c0003t0001g0253 a0002c0003t0001g0257	2	270	0.0074	25	c.317 others(44): Show c.317+15122_317+15146dupCGGATATATATATATATATATATAT	LMO7	ENSG00000136153.20	transcript	ENST00000377534.8	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr13	TogoVar
LMO7_chr13_75631330_75864866	75776164	T T	TATATATA others(18): Show TATATATATATATATATATATATCGG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0161 a0002c0003t0011g0161	1	267	0.0037	25	c.317 others(44): Show c.317+15148_317+15149insCGGATATATATATATATATATATAT	LMO7	ENSG00000136153.20	transcript	ENST00000377534.8	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr13	TogoVar
LMOD1_chr1_201891456_201951548	201933553	T T	TATTATAT others(18): Show TATTATATATGTACACATATACATAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0215 a0002c0002t0002g0215	1	398	0.0025	25	c.261 others(44): Show c.261+12526_261+12527insGTATGTATATGTGTACATATATAAT	LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding	1/2			chr1	TogoVar
LMOD1_chr1_201891456_201951548	201947181	G G	GAGAGAGA others(18): Show GAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	57	0.0175	25	c.-84 others(34): Show c.-842_-841insTCTCTCTCTCTCTCTCTCTCTCTCT	LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding		634		chr1	TogoVar

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