Joint Open Genome and Omics Platform (JoGo)

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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
NDUFB5_chr3_179599794_179632647	179624572	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp2 HG01358.hp1 HG01978.hp1 others(6): Show HG01261.hp2 HG01358.hp1 HG01978.hp1 HG02145.hp1 HG02258.hp1 HG02622.hp1 NA18612.hp1 NA18973.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0020 a0001c0001t0064 a0001c0001t0065 others(3): Show a0001c0001t0020 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0002c0003t0054	a0001c0001t0020g0002 a0001c0001t0020g0014 a0001c0001t0020g0125 others(5): Show a0001c0001t0020g0002 a0001c0001t0020g0014 a0001c0001t0020g0125 a0001c0001t0064g0018 a0001c0001t0065g0001 a0001c0001t0066g0104 a0001c0001t0067g0099 a0002c0003t0054g0127	9	366	0.0246	30	c.53 others(39): Show c.535_*564dupACACACACACACACACACACACACACACAC	NDUFB5	ENSG00000136521.13	transcript	ENST00000259037.8	protein_coding	6/6	565	INFO_REALIGN_3_PRIME	chr3	TogoVar
NDUFB7_chr19_14561078_14577066	14574442	G G	GTGTTCTG others(23): Show GTGTTCTGGGCGTGTCTCCTTAATCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	402	0.0025	30	c.-24 others(41): Show c.-2443_-2442insAAGGAAGATTAAGGAGACACGCCCAGAACA	NDUFB7	ENSG00000099795.7	transcript	ENST00000215565.3	protein_coding		2377		chr19	TogoVar
NECAB1_chr8_90786775_90964393	90906877	A A	ATATATAT others(23): Show ATATATATATATGTATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG01261.hp2 others(11): Show HG01167.hp1 HG01243.hp1 HG01261.hp2 HG02109.hp2 HG02145.hp1 HG02615.hp1 HG02717.hp2 HG02818.hp2 HG02896.hp1 HG03041.hp2 HG03139.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0023 a0001c0001t0050 a0001c0001t0004 a0001c0001t0023 a0001c0001t0050	a0001c0001t0004g0045 a0001c0001t0004g0095 a0001c0001t0004g0096 others(11): Show a0001c0001t0004g0045 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0102 a0001c0001t0004g0170 a0001c0001t0004g0172 a0001c0001t0004g0244 a0001c0001t0023g0032 a0001c0001t0023g0165 a0001c0001t0023g0169 a0001c0001t0050g0094	14	248	0.0565	30	c.358 others(49): Show c.358-10604_358-10603insGTATATATATATATATATGTATATAT ATAT	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NECAB1_chr8_90786775_90964393	90906877	A A	ATATATAT others(23): Show ATATATATATGTATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp1 HG02559.hp2 others(3): Show HG00735.hp1 HG01109.hp1 HG02559.hp2 HG02647.hp1 HG03098.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0028 a0001c0001t0044 others(1): Show a0001c0001t0021 a0001c0001t0028 a0001c0001t0044 a0001c0001t0048	a0001c0001t0021g0175 a0001c0001t0021g0176 a0001c0001t0028g0126 others(3): Show a0001c0001t0021g0175 a0001c0001t0021g0176 a0001c0001t0028g0126 a0001c0001t0028g0128 a0001c0001t0044g0125 a0001c0001t0048g0129	6	248	0.0242	30	c.358 others(49): Show c.358-10606_358-10605insGTATATATATATATATATATGTATAT ATAT	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NECAB1_chr8_90786775_90964393	90906877	A A	ATATATAT others(23): Show ATATATATATGTGTATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03540.hp2 HG02818.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0036 a0001c0001t0035 a0001c0001t0036	a0001c0001t0035g0130 a0001c0001t0036g0139 a0001c0001t0035g0130 a0001c0001t0036g0139	2	248	0.0081	30	c.358 others(49): Show c.358-10606_358-10605insGTGTATATATATATATATATGTATAT ATAT	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NECAB1_chr8_90786775_90964393	90906879	A A	ATATATAT others(23): Show ATATATATATGTATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG03041.hp1 others(2): Show HG02622.hp1 HG02647.hp2 HG03041.hp1 HG03453.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0009 a0001c0001t0009 a0002c0002t0009	a0001c0001t0009g0134 a0001c0001t0009g0135 a0001c0001t0009g0239 others(2): Show a0001c0001t0009g0134 a0001c0001t0009g0135 a0001c0001t0009g0239 a0001c0001t0009g0248 a0002c0002t0009g0124	5	248	0.0202	30	c.358 others(49): Show c.358-10604_358-10603insGTATATATATATATATATATGTATAT ATAT	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NECAB1_chr8_90786775_90964393	90906879	A A	ATATATAT others(23): Show ATATATATGTATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02015.hp2 HG02056.hp1 others(11): Show HG01978.hp2 HG02015.hp2 HG02056.hp1 HG02074.hp2 HG02155.hp2 HG02809.hp1 NA18747.hp1 NA18939.hp2 NA18944.hp2 NA18952.hp2 NA18964.hp2 NA18993.hp2 NA19074.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0030 a0001c0001t0032 others(1): Show a0001c0001t0003 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033	a0001c0001t0003g0014 a0001c0001t0003g0031 a0001c0001t0003g0035 others(11): Show a0001c0001t0003g0014 a0001c0001t0003g0031 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0103 a0001c0001t0003g0117 a0001c0001t0030g0047 a0001c0001t0032g0136 a0001c0001t0033g0013	14	248	0.0565	30	c.358 others(49): Show c.358-10606_358-10605insGTATATATATATATATATATATGTAT ATAT	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NECAB1_chr8_90786775_90964393	90906881	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0115 a0001c0001t0006g0115	1	248	0.0040	30	c.358 others(49): Show c.358-10586_358-10585insGTATGTATATATATATATATATATAT ATAT	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NECAB1_chr8_90786775_90964393	90906881	A A	ATATATAT others(23): Show ATATATATATGTATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0153 a0001c0001t0005g0153	1	248	0.0040	30	c.358 others(49): Show c.358-10602_358-10601insGTATATATATATATATGTATGTATAT ATAT	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NECAB1_chr8_90786775_90964393	90906883	A A	ATATATAT others(23): Show ATATATATGTATATATATATATATGTATGTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0138 a0001c0001t0046g0138	1	248	0.0040	30	c.358 others(49): Show c.358-10602_358-10601insGTATATATATATATATGTATGTGTAT ATAT	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NECAB1_chr8_90786775_90964393	90917870	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18969.hp2 HG02165.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0154 a0001c0001t0006g0164 a0001c0001t0006g0154 a0001c0001t0006g0164	2	248	0.0081	30	c.494 others(45): Show c.494+243_494+244insATATATATATATATATATATATATATGTGT	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NECAB1_chr8_90786775_90964393	90917870	A A	ATATATAT others(23): Show ATATATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0065 a0001c0001t0051g0065	1	248	0.0040	30	c.494 others(45): Show c.494+243_494+244insATATATATATATATATATGTGTGTGTGTGT	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NECAB1_chr8_90786775_90964393	90922486	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0161 a0001c0001t0020g0161	1	248	0.0040	30	c.495 others(47): Show c.495-3025_495-3024insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NEDD1_chr12_96902257_96958780	96932459	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	400	0.0025	30	c.490 others(47): Show c.490-2516_490-2515insTATATATATATATATATATATATATATA TA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18965.hp2 NA18955.hp1 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0302 a0001c0001t0001g0164 a0001c0001t0001g0302	2	400	0.0050	30	c.490 others(47): Show c.490-2512_490-2511insAAAAAAAAAAAATATATATATATATATA TA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA19001.hp1 NA19001.hp2 others(3): Show HG02083.hp2 NA19001.hp1 NA19001.hp2 NA19060.hp2 NA19063.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0222 others(3): Show a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0222 a0001c0001t0001g0253 a0001c0001t0001g0298 a0001c0001t0003g0325	6	400	0.0150	30	c.490 others(47): Show c.490-2512_490-2511insAAAAAAAAAATATATATATATATATATA TA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(23): Show AAAAAAAAAAATAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0349 a0001c0001t0001g0349	1	400	0.0025	30	c.490 others(47): Show c.490-2512_490-2511insAAAAAAAAATAATATATATATATATATA TA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	400	0.0025	30	c.490 others(47): Show c.490-2512_490-2511insAAAAAAAATATATATATATATATATATA TA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0008 a0005c0004t0008	a0005c0004t0008g0228 a0005c0004t0008g0228	1	400	0.0025	30	c.490 others(47): Show c.490-2512_490-2511insAAAATATATATATATATATATATATATA TA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD4_chr15_55821922_55998612	55940518	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01943.hp2 HG01952.hp1 others(14): Show HG00673.hp1 HG01943.hp2 HG01952.hp1 HG02027.hp2 HG02132.hp1 HG02559.hp2 HG02630.hp1 HG02897.hp2 NA18522.hp2 NA18962.hp2 NA18988.hp1 NA18990.hp1 NA18998.hp2 NA19012.hp2 NA19063.hp1 NA19066.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0010 a0002c0002t0002 a0002c0002t0003 a0002c0002t0010	a0002c0002t0002g0001 a0002c0002t0002g0036 a0002c0002t0002g0037 others(14): Show a0002c0002t0002g0001 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0003g0008 a0002c0002t0003g0010 a0002c0002t0003g0011 a0002c0002t0003g0018 a0002c0002t0003g0021 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0030 a0002c0002t0003g0043 a0002c0002t0003g0046 a0002c0002t0003g0049 a0002c0002t0003g0148 a0002c0002t0003g0150 a0002c0002t0010g0277	17	344	0.0494	30	c.237 others(49): Show c.237+10857_237+10858insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	NEDD4	ENSG00000069869.17	transcript	ENST00000435532.8	protein_coding	4/28			chr15	TogoVar
NEDD4_chr15_55821922_55998612	55954975	T T	TTGCACTG others(23): Show TTGCACTGCACTGCATTGTATTGCATTGCAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02809.hp2 HG02818.hp2 others(5): Show HG01255.hp2 HG02809.hp2 HG02818.hp2 HG02965.hp1 HG03130.hp1 HG03139.hp2 HG03453.hp2 NA18522.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0088 a0001c0006t0001g0111 a0001c0006t0001g0112 others(5): Show a0001c0006t0001g0088 a0001c0006t0001g0111 a0001c0006t0001g0112 a0001c0006t0001g0116 a0001c0006t0001g0143 a0001c0006t0001g0144 a0001c0006t0001g0145 a0001c0006t0001g0146	8	344	0.0233	30	c.120 others(47): Show c.120-3416_120-3387dupGTGCAATGCAATACAATGCAGTGCAGTG CA	NEDD4	ENSG00000069869.17	transcript	ENST00000435532.8	protein_coding	2/28			chr15	TogoVar
NEGR1_chr1_71390943_72287539	71675112	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02055.hp1 HG00741.hp2 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0007 a0001c0004t0001 a0001c0003t0007 a0001c0004t0001	a0001c0003t0007g0047 a0001c0004t0001g0003 a0001c0003t0007g0047 a0001c0004t0001g0003	2	64	0.0313	30	c.667 others(49): Show c.667+22895_667+22896insATATATATATATATATATATATATAT ATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	4/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71675126	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01192.hp2 HG02896.hp1 others(1): Show HG00639.hp1 HG01192.hp2 HG02896.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0001c0001t0003 a0002c0007t0001 a0001c0001t0001 a0001c0001t0003 a0002c0007t0001	a0001c0001t0001g0008 a0001c0001t0003g0002 a0001c0001t0003g0039 others(1): Show a0001c0001t0001g0008 a0001c0001t0003g0002 a0001c0001t0003g0039 a0002c0007t0001g0064	4	64	0.0625	30	c.667 others(49): Show c.667+22881_667+22882insGTGTATATATATATATATATATATAT ATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	4/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71834887	T T	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0004	1	64	0.0156	30	c.410 others(49): Show c.410-58591_410-58590insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	72216386	T T	TATATATA others(23): Show TATATATATATATACATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG01934.hp1 others(2): Show HG01884.hp1 HG01884.hp2 HG01934.hp1 HG03225.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013	a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0004g0041 others(2): Show a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0004g0041 a0001c0001t0005g0027 a0001c0001t0013g0042	5	64	0.0781	30	c.176 others(49): Show c.176+65932_176+65933insGTGTATATATATATATGTATATATAT ATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	1/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	72216404	T T	TATATATA others(23): Show TATATATATATACACATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0006 a0001c0001t0027g0006	1	64	0.0156	30	c.176 others(49): Show c.176+65914_176+65915insGTATATATATATATATGTGTATATAT ATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	1/6			chr1	TogoVar
NEK11_chr3_131021877_131355465	131115948	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0245 a0003c0003t0001g0245	1	292	0.0034	30	c.455 others(47): Show c.455+6029_455+6058dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK11_chr3_131021877_131355465	131115952	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03669.hp2 NA18906.hp1 HG01358.hp2 HG03669.hp2 NA18906.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0020 a0003c0003 a0002c0002 a0002c0020 a0003c0003	a0002c0002t0001 a0002c0020t0001 a0003c0003t0001 a0002c0002t0001 a0002c0020t0001 a0003c0003t0001	a0002c0002t0001g0254 a0002c0020t0001g0253 a0003c0003t0001g0268 a0002c0002t0001g0254 a0002c0020t0001g0253 a0003c0003t0001g0268	3	292	0.0103	30	c.455 others(47): Show c.455+6033_455+6062dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK11_chr3_131021877_131355465	131115956	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0247 a0002c0002t0001g0247	1	292	0.0034	30	c.455 others(47): Show c.455+6037_455+6066dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK11_chr3_131021877_131355465	131115962	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0284 a0003c0004t0001g0284	1	292	0.0034	30	c.455 others(47): Show c.455+6068_455+6069insCTTTTTCTTTCTTTCTTTCTTTCTTTCT TT	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK1_chr4_169387809_169617583	169428351	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0005 a0001c0003t0005g0005	1	260	0.0039	30	c.288 others(49): Show c.2886-2118_2886-2117insATATATATATATATATATATATATAT ATAT	NEK1	ENSG00000137601.18	transcript	ENST00000507142.6	protein_coding	29/35			chr4	TogoVar
NEK4_chr3_52703444_52775940	52752933	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0273 a0001c0001t0014g0275 a0001c0001t0014g0273 a0001c0001t0014g0275	2	318	0.0063	30	c.964 others(45): Show c.964-598_964-597insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NEK4	ENSG00000114904.13	transcript	ENST00000233027.10	protein_coding	6/15			chr3	TogoVar
NELL1_chr11_20664586_21580686	20721181	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03225.hp2 NA19240.hp1 HG02145.hp2 HG03225.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0008 a0002c0010 a0001c0004 a0001c0008 a0002c0010	a0001c0004t0001 a0001c0008t0001 a0002c0010t0001 a0001c0004t0001 a0001c0008t0001 a0002c0010t0001	a0001c0004t0001g0084 a0001c0008t0001g0041 a0002c0010t0001g0083 a0001c0004t0001g0084 a0001c0008t0001g0041 a0002c0010t0001g0083	3	88	0.0341	30	c.184 others(49): Show c.184+43137_184+43138insTATATATATATATATATATATATATA TATA	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	20915699	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02965.hp2 HG06807.hp2 HG00621.hp1 HG02965.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0001c0001t0001 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0024 a0001c0004t0001g0046 a0002c0002t0001g0006 a0001c0001t0001g0024 a0001c0004t0001g0046 a0002c0002t0001g0006	3	88	0.0341	30	c.604 others(47): Show c.604-2483_604-2482insTATATATATATATATATATATATATATA TA	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	5/19			chr11	TogoVar
NELL2_chr12_44503278_44881315	44521529	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	158	0.0063	30	c.217 others(47): Show c.2175+470_2175+471insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	18/19			chr12	TogoVar
NELL2_chr12_44503278_44881315	44587284	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	158	0.0063	30	c.166 others(51): Show c.1663+19884_1663+19885insATATATATATATATATATTTTTTT TTTTTT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	15/19			chr12	TogoVar
NELL2_chr12_44503278_44881315	44587284	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03710.hp2 HG03669.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0143 a0001c0001t0003g0052 a0001c0001t0001g0143 a0001c0001t0003g0052	2	158	0.0127	30	c.166 others(51): Show c.1663+19884_1663+19885insATATATATATATATATATATTTTT TTTTTT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	15/19			chr12	TogoVar
NELL2_chr12_44503278_44881315	44791097	G G	GTATATAT others(23): Show GTATATATATATATACGTATATATATATGTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0004 a0003c0003t0004g0004	1	158	0.0063	30	c.336 others(49): Show c.336-11076_336-11075insTACATATATATATACGTATATATATA TATA	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	3/19			chr12	TogoVar
NELL2_chr12_44503278_44881315	44838679	A A	AAATTGGT others(23): Show AAATTGGTGTATTATTACAACGTGGATAAAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG03669.hp1 others(2): Show HG02055.hp1 HG02280.hp2 HG03669.hp1 NA18906.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0150 others(2): Show a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0150 a0001c0001t0004g0016 a0001c0001t0004g0017	5	158	0.0317	30	c.185 others(49): Show c.185-22544_185-22543insATTTATCCACGTTGTAATAATACACC AATT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	2/19			chr12	TogoVar
NEMF_chr14_49777083_49857788	49806232	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0221 a0002c0003t0004g0221	1	222	0.0045	30	c.174 others(46): Show c.1745-100_1745-99insTATATATATATATATATATATATATACAC A	NEMF	ENSG00000165525.18	transcript	ENST00000298310.10	protein_coding	18/32			chr14	TogoVar
NEO1_chr15_73047463_73310205	73222091	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0082 a0002c0006t0003g0082	1	324	0.0031	30	c.129 others(51): Show c.1292-14254_1292-14225dupTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NEO1_chr15_73047463_73310205	73244954	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0310 a0001c0002t0001g0310	1	324	0.0031	30	c.160 others(47): Show c.1606+485_1606+486insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NEO1_chr15_73047463_73310205	73257132	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18971.hp1 NA19083.hp2 HG04199.hp1 NA18971.hp1 NA19083.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0007 a0007c0015 a0001c0001 a0001c0007 a0007c0015	a0001c0001t0003 a0001c0007t0004 a0007c0015t0003 a0001c0001t0003 a0001c0007t0004 a0007c0015t0003	a0001c0001t0003g0247 a0001c0007t0004g0317 a0007c0015t0003g0240 a0001c0001t0003g0247 a0001c0007t0004g0317 a0007c0015t0003g0240	3	324	0.0093	30	c.209 others(49): Show c.2093-1613_2093-1612insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NEO1_chr15_73047463_73310205	73295125	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG03017.hp2 HG03942.hp1 HG02273.hp2 HG03017.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0187 a0001c0001t0002g0193 a0001c0001t0002g0121 a0001c0001t0002g0187 a0001c0001t0002g0193	3	324	0.0093	30	c.390 others(49): Show c.3901+1595_3901+1596insATATATATATATATATATATATATAT ATAT	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NETO1_chr18_72738756_72872987	72772825	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0320 a0001c0001t0009g0320	1	348	0.0029	30	c.868 others(49): Show c.868+10852_868+10853insTATATATATATATATAGAGAGAGAGA GAGA	NETO1	ENSG00000166342.19	transcript	ENST00000327305.11	protein_coding	7/10			chr18	TogoVar
NETO2_chr16_47072703_47148945	47115716	T T	TATATATA others(23): Show TATATATATATACATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02258.hp2 HG01361.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0120 a0001c0001t0003g0100 a0001c0001t0002g0120 a0001c0001t0003g0100	2	168	0.0119	30	c.655 others(47): Show c.655-6006_655-6005insGTGTATATATATATATATGTATATATAT AT	NETO2	ENSG00000171208.10	transcript	ENST00000562435.6	protein_coding	6/8			chr16	TogoVar
NETO2_chr16_47072703_47148945	47115716	T T	TATATATA others(23): Show TATATATATATACATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp1 HG01109.hp2 others(17): Show HG00735.hp2 HG01074.hp1 HG01109.hp2 HG01255.hp1 HG02257.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp2 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0001t0025	a0001c0001t0002g0004 a0001c0001t0002g0117 a0001c0001t0002g0118 others(14): Show a0001c0001t0002g0004 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0003g0013 a0001c0001t0003g0091 a0001c0001t0003g0094 a0001c0001t0014g0143 a0001c0001t0014g0144 a0001c0001t0025g0137	20	168	0.1191	30	c.655 others(47): Show c.655-6006_655-6005insGTATATATATATATATATGTATATATAT AT	NETO2	ENSG00000171208.10	transcript	ENST00000562435.6	protein_coding	6/8			chr16	TogoVar
NEURL1B_chr5_172636263_172696540	172663054	A A	AAATAATA others(23): Show AAATAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00621.hp1 others(37): Show HG00408.hp1 HG00438.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01123.hp2 HG01256.hp2 HG01884.hp1 HG01928.hp2 HG01943.hp2 HG02027.hp2 HG02056.hp1 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02258.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG03098.hp2 HG03195.hp1 HG03516.hp1 HG03942.hp2 HG04184.hp1 NA18955.hp1 NA18969.hp2 NA18984.hp2 NA18988.hp1 NA18994.hp1 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0008 a0001c0013 others(3): Show a0001c0001 a0001c0008 a0001c0013 a0002c0003 a0003c0006 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0020 a0001c0001t0047 a0001c0008t0009 a0001c0013t0012 a0002c0003t0006 a0003c0006t0012 a0005c0015t0001	a0001c0001t0001g0008 a0001c0001t0001g0033 a0001c0001t0001g0034 others(34): Show a0001c0001t0001g0008 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0157 a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0003g0037 a0001c0001t0003g0060 a0001c0001t0005g0072 a0001c0001t0006g0059 a0001c0001t0012g0016 a0001c0001t0014g0222 a0001c0001t0014g0223 a0001c0001t0017g0264 a0001c0001t0017g0351 a0001c0001t0020g0058 a0001c0001t0047g0074 a0001c0008t0009g0082 a0001c0008t0009g0182 a0001c0013t0012g0352 a0002c0003t0006g0007 a0002c0003t0006g0052 a0003c0006t0012g0353 a0005c0015t0001g0062	40	392	0.1020	30	c.32- others(45): Show c.32-6718_32-6717insATAATAATAATAATAATAATAATAATAATA	NEURL1B	ENSG00000214357.9	transcript	ENST00000369800.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
NEURL1B_chr5_172636263_172696540	172663829	T T	TTTTTTTT others(23): Show TTTTTTTTTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01257.hp1 HG02071.hp1 others(6): Show HG00558.hp2 HG01257.hp1 HG02071.hp1 HG02809.hp2 HG03486.hp1 HG03831.hp1 HG03834.hp1 NA18964.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0004t0008	a0001c0001t0001g0311 a0001c0001t0002g0277 a0001c0001t0003g0190 others(6): Show a0001c0001t0001g0311 a0001c0001t0002g0277 a0001c0001t0003g0190 a0001c0001t0003g0267 a0001c0001t0003g0272 a0001c0001t0003g0280 a0001c0001t0003g0315 a0001c0001t0015g0294 a0001c0004t0008g0293	9	392	0.0230	30	c.32- others(45): Show c.32-5954_32-5953insTTTTTTATTATTATTATTATTATTATTATT	NEURL1B	ENSG00000214357.9	transcript	ENST00000369800.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
NEURL1B_chr5_172636263_172696540	172663829	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0150 a0001c0001t0048g0150	1	392	0.0026	30	c.32- others(45): Show c.32-5954_32-5953insTTTTTTTTTATTATTATTATTATTATTATT	NEURL1B	ENSG00000214357.9	transcript	ENST00000369800.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar

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