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
NCAPH2_chr22_50503224_50529780	50528979	GGGGTGGG others(20): Show GGGGTGGGGAGAACTGTGCTGGGGAGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02280.hp2 HG03239.hp2 others(4): Show HG02165.hp1 HG02280.hp2 HG03239.hp2 HG03669.hp1 HG04184.hp2 NA19005.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0005 a0001c0001t0008 a0001c0015t0005 a0001c0001t0005 a0001c0001t0008 a0001c0015t0005	a0001c0001t0005g0045 a0001c0001t0005g0106 a0001c0001t0005g0219 others(4): Show a0001c0001t0005g0045 a0001c0001t0005g0106 a0001c0001t0005g0219 a0001c0001t0005g0225 a0001c0001t0005g0226 a0001c0001t0008g0045 a0001c0015t0005g0220	7	382	0.0183	-27	c.56 others(38): Show c.5605_*5631delGGGTGGGGAGAACTGTGCTGGGGAGCA	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		4200		chr22	TogoVar
NCKAP5_chr2_132666788_133573463	133526238	AGGGAGGG others(20): Show AGGGAGGGAAGGAGGGAGGGAGGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp1 HG01109.hp1 others(10): Show HG00408.hp2 HG00738.hp1 HG01109.hp1 HG02257.hp2 HG02622.hp2 HG02896.hp1 HG02965.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03471.hp2 HG03486.hp1 NA18906.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0015	a0001c0001 a0002c0002 a0003c0004 others(7): Show a0001c0001 a0002c0002 a0003c0004 a0003c0020 a0004c0003 a0005c0007 a0006c0005 a0007c0014 a0009c0022 a0015c0017	a0001c0001t0001 a0001c0001t0002 a0002c0002t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0004 a0003c0004t0001 a0003c0020t0001 a0004c0003t0001 a0004c0003t0002 a0005c0007t0001 a0005c0007t0002 a0006c0005t0007 a0007c0014t0002 a0009c0022t0001 a0015c0017t0003	a0001c0001t0001g0020 a0001c0001t0002g0067 a0002c0002t0004g0001 others(10): Show a0001c0001t0001g0020 a0001c0001t0002g0067 a0002c0002t0004g0001 a0003c0004t0001g0039 a0003c0020t0001g0024 a0004c0003t0001g0007 a0004c0003t0002g0026 a0005c0007t0001g0050 a0005c0007t0002g0051 a0006c0005t0007g0066 a0007c0014t0002g0045 a0009c0022t0001g0047 a0015c0017t0003g0033	13	68	0.1912	-27	c.-61 others(44): Show c.-61-8678_-61-8652delCCTTCCCTCCCTCCCTCCTTCCCTCCC	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	2/19			chr2	TogoVar
NCL_chr2_231448531_231469484	231468358	CCATCCAG others(20): Show CCATCCAGGAGGTTGGGCCCTGCTGGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0037 a0001c0002t0003g0037	1	460	0.0022	-27	c.-40 others(38): Show c.-4032_-4006delCTCCAGCAGGGCCCAACCTCCTGGATG	NCL	ENSG00000115053.17	transcript	ENST00000322723.9	protein_coding		3875		chr2	TogoVar
NCMAP_chr1_24551087_24614328	24604596	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0272 a0001c0001t0010g0272	1	393	0.0025	-27	c.168 others(43): Show c.168-1008_168-982delAAAAAAAAATATATATATATATATATA	NCMAP	ENSG00000184454.7	transcript	ENST00000374392.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
NCMAP_chr1_24551087_24614328	24604598	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0019 a0001c0001t0007g0019	1	394	0.0025	-27	c.168 others(43): Show c.168-1006_168-980delAAAAAAATATATATATATATATATATA	NCMAP	ENSG00000184454.7	transcript	ENST00000374392.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
NCMAP_chr1_24551087_24614328	24604600	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02818.hp2 HG02965.hp1 others(2): Show HG02145.hp1 HG02818.hp2 HG02965.hp1 HG03453.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0001 a0001c0001t0007g0020 a0001c0001t0007g0023 others(1): Show a0001c0001t0007g0001 a0001c0001t0007g0020 a0001c0001t0007g0023 a0001c0001t0007g0274	5	384	0.0130	-27	c.168 others(43): Show c.168-1004_168-978delAAAAATATATATATATATATATATATA	NCMAP	ENSG00000184454.7	transcript	ENST00000374392.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
NCOA7_chr6_125785960_125937034	125863610	GGAAAAAT others(20): Show GGAAAAATACTCTAATTCTGTCTTCGGC	G G	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	268	0.0037	-27	c.271 others(44): Show c.271+8371_271+8397delGAAAAATACTCTAATTCTGTCTTCGGC	NCOA7	ENSG00000111912.20	transcript	ENST00000392477.7	protein_coding	3/15			chr6	TogoVar
NCOR1_chr17_16024157_16220534	16092675	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	279	0.0036	-27	c.282 others(44): Show c.2821-644_2821-618delAAAAAAATATATATATATATATATATA	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR2_chr12_124319415_124572612	124337772	AGCTGGGG others(20): Show AGCTGGGGCACAGCTGCCCCTGCACAGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp1 HG03041.hp2 others(2): Show HG02258.hp2 HG02451.hp1 HG03041.hp2 HG03453.hp2 NA20129.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0084 a0002c0115 a0002c0119 others(1): Show a0001c0084 a0002c0115 a0002c0119 a0008c0035	a0001c0084t0003 a0002c0115t0007 a0002c0119t0079 others(2): Show a0001c0084t0003 a0002c0115t0007 a0002c0119t0079 a0008c0035t0007 a0008c0035t0010	a0001c0084t0003g0121 a0002c0115t0007g0167 a0002c0119t0079g0233 others(2): Show a0001c0084t0003g0121 a0002c0115t0007g0167 a0002c0119t0079g0233 a0008c0035t0007g0224 a0008c0035t0010g0225	5	232	0.0216	-27	c.568 others(44): Show c.5688-619_5688-593delCCTGTGCAGGGGCAGCTGTGCCCCAGC	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	39/48			chr12	TogoVar
NCOR2_chr12_124319415_124572612	124396499	CCCCAGGC others(20): Show CCCCAGGCCCTACCAGCTGGATACAGTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG02486.hp1 others(3): Show HG01884.hp1 HG02280.hp1 HG02486.hp1 HG02630.hp1 HG02976.hp1 NA21309.hp1	a0002 a0007 a0013 a0002 a0007 a0013	a0002c0001 a0002c0017 a0002c0118 others(2): Show a0002c0001 a0002c0017 a0002c0118 a0007c0004 a0013c0113	a0002c0001t0003 a0002c0001t0010 a0002c0017t0070 others(3): Show a0002c0001t0003 a0002c0001t0010 a0002c0017t0070 a0002c0118t0005 a0007c0004t0001 a0013c0113t0001	a0002c0001t0003g0173 a0002c0001t0010g0204 a0002c0017t0070g0113 others(3): Show a0002c0001t0003g0173 a0002c0001t0010g0204 a0002c0017t0070g0113 a0002c0118t0005g0149 a0007c0004t0001g0143 a0013c0113t0001g0112	6	232	0.0259	-27	c.187 others(46): Show c.1876+1593_1876+1619delCACTGTATCCAGCTGGTAGGGCCTGG G	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	18/48			chr12	TogoVar
NCOR2_chr12_124319415_124572612	124417180	GAGCAGGC others(20): Show GAGCAGGCCGGACACTCACTCCACGGAC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0005 a0005	a0005c0064 a0005c0064	a0005c0064t0028 a0005c0064t0028	a0005c0064t0028g0161 a0005c0064t0028g0161	1	178	0.0056	-27	c.148 others(46): Show c.1482+2750_1482+2776delGTCCGTGGAGTGAGTGTCCGGCCTGC T	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	15/48			chr12	TogoVar
NCOR2_chr12_124319415_124572612	124503464	CTGATGGA others(20): Show CTGATGGATGGATGGATGGATGATGGAT	C C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0052 a0001c0052	a0001c0052t0003 a0001c0052t0003	a0001c0052t0003g0215 a0001c0052t0003g0215	1	232	0.0043	-27	c.-11 others(46): Show c.-117-8123_-117-8097delATCCATCATCCATCCATCCATCCATC A	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	2/48			chr12	TogoVar
NCS1_chr9_130167404_130242303	130168454	ACCTTCCA others(20): Show ACCTTCCAGCCCCCAAATGTCTCTCCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	346	0.0029	-27	c.-42 others(38): Show c.-4209_-4183delCCTTCCAGCCCCCAAATGTCTCTCCTG	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding		3949		chr9	TogoVar
NCS1_chr9_130167404_130242303	130176167	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02922.hp1 HG03130.hp2 HG02602.hp1 HG02922.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0129 a0001c0002t0021 a0001c0002t0148 a0001c0001t0129 a0001c0002t0021 a0001c0002t0148	a0001c0001t0129g0301 a0001c0002t0021g0034 a0001c0002t0148g0130 a0001c0001t0129g0301 a0001c0002t0021g0034 a0001c0002t0148g0130	3	345	0.0087	-27	c.64+ others(42): Show c.64+3443_64+3469delCTTTCTTTCTTTCTTTCTTTCTTTCTT	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NDC80_chr18_2566557_2621635	2598059	CATTTAAT others(20): Show CATTTAATGTATAAGTAATAAGCCCAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	400	0.0025	-27	c.122 others(44): Show c.1222-940_1222-914delAGCCCAAAATTTAATGTATAAGTAATA	NDC80	ENSG00000080986.13	transcript	ENST00000261597.9	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
NDFIP1_chr5_142103779_142159440	142154760	TGGGATTA others(20): Show TGGGATTACAGGCGCGCGCCACTACGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00609.hp1 others(22): Show HG00140.hp2 HG00323.hp1 HG00609.hp1 HG00639.hp1 HG00741.hp2 HG01168.hp1 HG01169.hp1 HG02015.hp1 HG02135.hp1 HG02602.hp1 HG03239.hp1 HG03490.hp1 HG04184.hp1 NA18943.hp2 NA18956.hp1 NA18967.hp1 NA18971.hp2 NA18978.hp1 NA18980.hp2 NA18989.hp1 NA19057.hp2 NA19066.hp2 NA19067.hp2 NA19079.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0032 a0001c0001t0033 a0001c0001t0003 a0001c0001t0032 a0001c0001t0033	a0001c0001t0003g0029 a0001c0001t0003g0176 a0001c0001t0003g0177 others(21): Show a0001c0001t0003g0029 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0322 a0001c0001t0032g0188 a0001c0001t0033g0195	25	390	0.0641	-27	c.30 others(38): Show c.3033_*3059delGGGATTACAGGCGCGCGCCACTACGCC	NDFIP1	ENSG00000131507.11	transcript	ENST00000253814.6	protein_coding		321		chr5	TogoVar
NDRG3_chr20_36646771_36751090	36693104	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19043.hp2 HG03139.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0244 a0001c0001t0001g0176 a0001c0001t0001g0244	2	278	0.0072	-27	c.94- others(42): Show c.94-4347_94-4321delATATATATATATATATATATATATATT	NDRG3	ENSG00000101079.21	transcript	ENST00000349004.6	protein_coding	3/15			chr20	TogoVar
NDRG3_chr20_36646771_36751090	36746076	AGCAGCGG others(20): Show AGCAGCGGCGGCGGCGGCGGCGGCGGCG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0298 a0001c0001t0013g0298	1	296	0.0034	-27	c.-10 others(35): Show c.-107_-81delCGCCGCCGCCGCCGCCGCCGCCGCTGC	NDRG3	ENSG00000101079.21	transcript	ENST00000349004.6	protein_coding	1/16	24342		chr20	TogoVar
NDRG3_chr20_36646771_36751090	36746079	AGCGGCGG others(20): Show AGCGGCGGCGGCGGCGGCGGCGGCGGCG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	48	0.0208	-27	c.-11 others(35): Show c.-110_-84delCGCCGCCGCCGCCGCCGCCGCCGCCGC	NDRG3	ENSG00000101079.21	transcript	ENST00000349004.6	protein_coding	1/16	24345		chr20	TogoVar
NDST3_chr4_118029486_118263634	118066439	CATATGTT others(20): Show CATATGTTATATATTATATATACATTAT	C C	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	74	0.0135	-27	c.981 others(46): Show c.981+11634_981+11660delGTTATATATTATATATACATTATATA T	NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
NDUFA9_chr12_4644114_4699317	4685679	CTGAAGAA others(20): Show CTGAAGAAACTGTTGACAGTTTCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00438.hp1 others(130): Show HG00140.hp1 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01192.hp1 HG01255.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG02004.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18939.hp2 NA18942.hp1 NA18944.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18955.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18972.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18988.hp1 NA18992.hp1 NA18995.hp2 NA18997.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19063.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19081.hp1 NA19086.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0004 a0001c0001 a0002c0003 a0004c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(19): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0038 a0001c0001t0042 a0001c0001t0043 a0002c0003t0009 a0004c0004t0060 a0004c0004t0061 a0004c0004t0062	a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 others(97): Show a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0038 a0001c0001t0002g0048 a0001c0001t0002g0056 a0001c0001t0002g0077 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0121 a0001c0001t0002g0126 a0001c0001t0002g0132 a0001c0001t0002g0142 a0001c0001t0002g0148 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0160 a0001c0001t0002g0164 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0198 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0005g0018 a0001c0001t0005g0040 a0001c0001t0005g0047 a0001c0001t0005g0055 a0001c0001t0005g0065 a0001c0001t0005g0124 a0001c0001t0005g0137 a0001c0001t0005g0144 a0001c0001t0005g0165 a0001c0001t0005g0166 a0001c0001t0005g0254 a0001c0001t0008g0007 a0001c0001t0008g0182 a0001c0001t0011g0029 a0001c0001t0011g0076 a0001c0001t0012g0010 a0001c0001t0012g0130 a0001c0001t0017g0052 a0001c0001t0017g0154 a0001c0001t0018g0054 a0001c0001t0018g0064 a0001c0001t0027g0089 a0001c0001t0029g0079 a0001c0001t0030g0125 a0001c0001t0031g0006 a0001c0001t0032g0106 a0001c0001t0033g0048 a0001c0001t0034g0178 a0001c0001t0035g0001 a0001c0001t0038g0040 a0001c0001t0042g0238 a0001c0001t0043g0216 a0002c0003t0009g0016 a0002c0003t0009g0127 a0004c0004t0060g0140 a0004c0004t0061g0251 a0004c0004t0062g0149	133	360	0.3694	-27	c.963 others(42): Show c.963+356_963+382delGAAGAAACTGTTGACAGTTTCTTCCTT	NDUFA9	ENSG00000139180.11	transcript	ENST00000266544.10	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
NDUFS6_chr5_1796407_1821048	1797048	GCATGCAC others(20): Show GCATGCACACACACGTGCCATATACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02523.hp1 HG02602.hp1 HG02647.hp2 HG02723.hp2 HG02738.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18940.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp2 NA19002.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19078.hp2 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 others(51): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0069 a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0002g0012	151	442	0.3416	-27	c.-43 others(38): Show c.-4369_-4343delCATGCACACACACGTGCCATATACACA	NDUFS6	ENSG00000145494.12	transcript	ENST00000274137.10	protein_coding		4358		chr5	TogoVar
NDUFS7_chr19_1378907_1400584	1394491	TCCTCCCT others(20): Show TCCTCCCTCCTTGGGGACCGTGCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0150 a0001c0001t0003g0150	1	416	0.0024	-27	c.545 others(42): Show c.545-890_545-864delTTGGGGACCGTGCTCCTCCCTCCCTCC	NDUFS7	ENSG00000115286.21	transcript	ENST00000233627.14	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
NEB_chr2_151480339_151739476	151599980	AGGAGTTC others(20): Show AGGAGTTCAAGACCAGCCTGGCCAAGAT	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0088 a0088	a0088c0118 a0088c0118	a0088c0118t0001 a0088c0118t0001	a0088c0118t0001g0144 a0088c0118t0001g0144	1	186	0.0054	-27	c.137 others(46): Show c.13788+435_13788+461delATCTTGGCCAGGCTGGTCTTGAACTC C	NEB	ENSG00000183091.21	transcript	ENST00000397345.8	protein_coding	89/181			chr2	TogoVar
NEDD4L_chr18_58039226_58406539	58307274	TCAGTCTG others(20): Show TCAGTCTGCGAGGCAGGAAGCACACTAG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp2 HG03041.hp1 others(5): Show HG01891.hp1 HG02622.hp2 HG03041.hp1 HG03225.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0018 a0001c0001t0024 a0001c0001t0041 a0002c0003t0042	a0001c0001t0001g0093 a0001c0001t0001g0106 a0001c0001t0003g0094 others(5): Show a0001c0001t0001g0093 a0001c0001t0001g0106 a0001c0001t0003g0094 a0001c0001t0012g0114 a0001c0001t0018g0087 a0001c0001t0024g0118 a0001c0001t0041g0013 a0002c0003t0042g0117	8	116	0.0690	-27	c.298 others(44): Show c.298-8704_298-8678delTCTGCGAGGCAGGAAGCACACTAGCAG	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	5/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58316952	CTTTATTT others(20): Show CTTTATTTACTTTATTTAAAGCTATTTA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp1 HG00738.hp1 others(61): Show HG00099.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG01099.hp1 HG01099.hp2 HG01346.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02258.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp1 HG03834.hp1 NA18612.hp2 NA18951.hp1 NA18962.hp2 NA18971.hp2 NA18983.hp2 NA18995.hp1 NA19004.hp1 NA19005.hp2 NA19030.hp1 NA19030.hp2 NA19060.hp1 NA19060.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0025 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0044 a0001c0001t0046 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0004t0004 a0001c0005t0048	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0016 others(61): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0111 a0001c0001t0002g0035 a0001c0001t0002g0059 a0001c0001t0002g0075 a0001c0001t0002g0108 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0040 a0001c0001t0003g0064 a0001c0001t0003g0077 a0001c0001t0003g0112 a0001c0001t0004g0041 a0001c0001t0005g0080 a0001c0001t0005g0082 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0005g0096 a0001c0001t0006g0024 a0001c0001t0006g0025 a0001c0001t0007g0057 a0001c0001t0007g0091 a0001c0001t0007g0092 a0001c0001t0007g0102 a0001c0001t0008g0029 a0001c0001t0008g0060 a0001c0001t0009g0003 a0001c0001t0009g0116 a0001c0001t0010g0061 a0001c0001t0013g0088 a0001c0001t0014g0107 a0001c0001t0015g0032 a0001c0001t0016g0017 a0001c0001t0016g0018 a0001c0001t0017g0084 a0001c0001t0017g0085 a0001c0001t0018g0008 a0001c0001t0020g0062 a0001c0001t0021g0046 a0001c0001t0025g0069 a0001c0001t0032g0055 a0001c0001t0033g0081 a0001c0001t0034g0099 a0001c0001t0035g0050 a0001c0001t0036g0023 a0001c0001t0037g0045 a0001c0001t0038g0067 a0001c0001t0039g0076 a0001c0001t0044g0063 a0001c0001t0046g0020 a0001c0001t0049g0005 a0001c0001t0050g0007 a0001c0001t0051g0009 a0001c0004t0004g0115 a0001c0005t0048g0070	64	116	0.5517	-27	c.348 others(42): Show c.348+921_348+947delTTTATTTACTTTATTTAAAGCTATTTA	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	6/30			chr18	TogoVar
NEDD4_chr15_55821922_55998612	55839990	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG04204.hp2 HG03017.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0208 a0001c0001t0002g0209	2	342	0.0058	-27	c.203 others(44): Show c.2031+430_2031+456delATATATATATATATATATTTTTTTTTT	NEDD4	ENSG00000069869.17	transcript	ENST00000435532.8	protein_coding	21/28			chr15	TogoVar
NEDD4_chr15_55821922_55998612	55839992	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00733.hp1 others(8): Show HG00140.hp1 HG00140.hp2 HG00733.hp1 HG01516.hp1 HG01517.hp2 HG03688.hp2 HG03831.hp2 NA18983.hp1 NA19064.hp1 NA20805.hp1 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0002 a0001c0001t0016 a0006c0011t0002 a0001c0001t0002 a0001c0001t0016 a0006c0011t0002	a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0180 others(8): Show a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0180 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0224 a0001c0001t0002g0262 a0001c0001t0002g0277 a0001c0001t0016g0206 a0006c0011t0002g0188	11	337	0.0326	-27	c.203 others(44): Show c.2031+428_2031+454delATATATATATATATATATATTTTTTTT	NEDD4	ENSG00000069869.17	transcript	ENST00000435532.8	protein_coding	21/28			chr15	TogoVar
NEDD4_chr15_55821922_55998612	55839994	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01346.hp2 HG01361.hp1 others(2): Show HG01123.hp2 HG01346.hp2 HG01361.hp1 HG02738.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0002 a0001c0001t0015 a0001c0010t0002 a0001c0001t0002 a0001c0001t0015 a0001c0010t0002	a0001c0001t0002g0190 a0001c0001t0002g0203 a0001c0001t0002g0204 others(2): Show a0001c0001t0002g0190 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0015g0065 a0001c0010t0002g0044	5	338	0.0148	-27	c.203 others(44): Show c.2031+426_2031+452delATATATATATATATATATATATTTTTT	NEDD4	ENSG00000069869.17	transcript	ENST00000435532.8	protein_coding	21/28			chr15	TogoVar
NEDD9_chr6_11178298_11237668	11199637	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0229 a0001c0007t0001g0229	1	12	0.0833	-27	c.460 others(44): Show c.460-5972_460-5946delAAAAAAAAAAAAAAAAAAAAAAAAAAA	NEDD9	ENSG00000111859.17	transcript	ENST00000379446.10	protein_coding	2/6			chr6	TogoVar
NEK3_chr13_52127647_52164597	52129307	CCAGACGC others(20): Show CCAGACGCTTCGCAAACGTTCTCTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	396	0.0025	-27	c.38 others(38): Show c.3808_*3834delAAAGAGAGAACGTTTGCGAAGCGTCTG	NEK3	ENSG00000136098.18	transcript	ENST00000610828.5	protein_coding		3339		chr13	TogoVar
NELFB_chr9_137250327_137278542	137274844	GGCTGAGG others(20): Show GGCTGAGGAACAGTGCTTTGGAGGGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0201 a0001c0002t0002g0201	1	362	0.0028	-27	c.19 others(38): Show c.1917_*1943delGCTGAGGAACAGTGCTTTGGAGGGAGA	NELFB	ENSG00000188986.9	transcript	ENST00000343053.6	protein_coding		1303		chr9	TogoVar
NELL1_chr11_20664586_21580686	20975748	AATATACA others(20): Show AATATACATATTATATATGTATTATATG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	69	0.0145	-27	c.130 others(48): Show c.1300+15242_1300+15268delGATATACATATTATATATGTATTA TAT	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	21367426	TGCAAACC others(20): Show TGCAAACCACACGATATTACAAAGGGCA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG00642.hp2 others(21): Show HG00621.hp1 HG00642.hp1 HG00642.hp2 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG02145.hp2 HG02258.hp1 HG02698.hp1 HG02886.hp1 HG02970.hp2 HG02976.hp1 HG03453.hp2 HG03540.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18964.hp1 NA18964.hp2 NA18993.hp1 NA18993.hp2 NA20300.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0009 a0010	a0001c0001 a0001c0004 a0001c0005 others(7): Show a0001c0001 a0001c0004 a0001c0005 a0001c0011 a0002c0002 a0002c0003 a0002c0014 a0004c0012 a0009c0017 a0010c0023	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(8): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0001c0005t0002 a0001c0011t0001 a0002c0002t0001 a0002c0003t0001 a0002c0014t0001 a0004c0012t0001 a0009c0017t0005 a0010c0023t0001	a0001c0001t0001g0032 a0001c0001t0001g0078 a0001c0004t0001g0046 others(21): Show a0001c0001t0001g0032 a0001c0001t0001g0078 a0001c0004t0001g0046 a0001c0004t0001g0084 a0001c0005t0001g0013 a0001c0005t0001g0068 a0001c0005t0002g0026 a0001c0011t0001g0035 a0002c0002t0001g0010 a0002c0002t0001g0050 a0002c0002t0001g0053 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0003t0001g0009 a0002c0003t0001g0016 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0086 a0002c0014t0001g0023 a0004c0012t0001g0057 a0009c0017t0005g0027 a0010c0023t0001g0058	24	86	0.2791	-27	c.155 others(46): Show c.1550-3426_1550-3400delGCAAACCACACGATATTACAAAGGGC A	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	14/19			chr11	TogoVar
NEU4_chr2_241804193_241822413	241806159	CCCCCCTC others(20): Show CCCCCCTCAGCCCAGGGACCTCCGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG03098.hp2 HG02148.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0001 a0001c0013t0001g0063 a0001c0001t0001g0001 a0001c0013t0001g0063	2	286	0.0070	-27	c.-31 others(38): Show c.-3118_-3092delCCCCCTCAGCCCAGGGACCTCCGCAGG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3033		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806194	CCCCCCTC others(20): Show CCCCCCTCAGCCCAGGAACCTCCGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01255.hp1 NA19011.hp2 HG00323.hp2 HG01255.hp1 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0006 a0002c0003 a0001c0004 a0001c0006 a0002c0003	a0001c0004t0001 a0001c0006t0001 a0002c0003t0002 a0001c0004t0001 a0001c0006t0001 a0002c0003t0002	a0001c0004t0001g0062 a0001c0006t0001g0026 a0002c0003t0002g0036 a0001c0004t0001g0062 a0001c0006t0001g0026 a0002c0003t0002g0036	3	301	0.0100	-27	c.-30 others(38): Show c.-3083_-3057delCCCCCTCAGCCCAGGAACCTCCGCAGG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2998		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806993	CCCCCCTC others(20): Show CCCCCCTCAGCCCAGGAACCTCCGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG02109.hp1 HG04228.hp2 others(3): Show HG00544.hp2 HG02109.hp1 HG04228.hp2 HG06807.hp2 NA18945.hp2 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0002c0003t0002	a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0167 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0167 a0001c0002t0001g0004 a0001c0004t0001g0108 a0002c0003t0002g0046	6	299	0.0201	-27	c.-22 others(38): Show c.-2284_-2258delCCCCCTCAGCCCAGGAACCTCCGCAGG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2199		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807223	CCCCCCTC others(20): Show CCCCCCTCAGCCCAGGAACCTCCGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	316	0.0032	-27	c.-20 others(38): Show c.-2054_-2028delCCCCCTCAGCCCAGGAACCTCCGCAGG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1969		chr2	TogoVar
NEUROG1_chr5_135529282_135540964	135539974	GCCTTCTA others(20): Show GCCTTCTAAGCATAGTACCTGAGTGTAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	406	0.0025	-27	c.-43 others(38): Show c.-4311_-4285delGTACACTCAGGTACTATGCTTAGAAGG	NEUROG1	ENSG00000181965.6	transcript	ENST00000314744.6	protein_coding		4011		chr5	TogoVar
NEXN_chr1_77883624_77948895	77887912	TTTCTTCT others(20): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02080.hp2 HG02135.hp2 others(2): Show HG02056.hp1 HG02080.hp2 HG02135.hp2 HG03486.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0001 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0208 a0001c0001t0003g0072 a0001c0001t0003g0101 others(2): Show a0001c0001t0001g0208 a0001c0001t0003g0072 a0001c0001t0003g0101 a0001c0001t0003g0128 a0001c0001t0011g0102	5	180	0.0278	-27	c.-89 others(36): Show c.-899_-873delTTCTTCTTCTTCTTCTTCTTCTTCTTC	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		711		chr1	TogoVar
NFAM1_chr22_42375407_42437403	42398382	TTTATTAT others(20): Show TTTATTATTATTATTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0356 a0001c0001t0005g0357 a0001c0001t0005g0356 a0001c0001t0005g0357	2	118	0.0169	-27	c.565 others(42): Show c.565-453_565-427delTAATAATAATAATAATAATAATAATAA	NFAM1	ENSG00000235568.7	transcript	ENST00000329021.10	protein_coding	3/5			chr22	TogoVar
NFAT5_chr16_69560966_69709654	69561005	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01255.hp2 HG02572.hp2 others(3): Show HG01109.hp1 HG01255.hp2 HG02572.hp2 HG03704.hp1 HG06807.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0017 a0001c0001t0028 others(1): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0028 a0001c0007t0051	a0001c0001t0002g0072 a0001c0001t0017g0374 a0001c0001t0017g0375 others(3): Show a0001c0001t0002g0072 a0001c0001t0017g0374 a0001c0001t0017g0375 a0001c0001t0017g0376 a0001c0001t0028g0373 a0001c0007t0051g0006	6	23	0.2609	-27	c.-52 others(38): Show c.-5296_-5270delAAAAAAAAAAAAAAAAAAAAAAAAAAA	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding		4960		chr16	TogoVar
NFATC1_chr18_79390930_79534323	79532154	CGTGGCTG others(20): Show CGTGGCTGTCCCCTGTGCCTGCGTGCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0007 a0001c0013t0007	a0001c0013t0007g0112 a0001c0013t0007g0112	1	319	0.0031	-27	c.45 others(38): Show c.4578_*4604delGTGGCTGTCCCCTGTGCCTGCGTGCAG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2832		chr18	TogoVar
NFATC2_chr20_51381963_51547719	51395307	ATTTAATT others(20): Show ATTTAATTAACTTGTATGGTATTGATCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00423.hp1 others(152): Show HG00099.hp1 HG00140.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18944.hp2 NA18948.hp1 NA18949.hp2 NA18953.hp2 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18980.hp2 NA18986.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19056.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19077.hp1 NA19081.hp1 NA19083.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0011 a0001c0020 a0002c0006 a0003c0008 a0004c0010 a0005c0016 a0006c0017	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(61): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0040 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0053 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0013 a0001c0002t0015 a0001c0002t0019 a0001c0002t0024 a0001c0002t0027 a0001c0002t0034 a0001c0002t0035 a0001c0002t0036 a0001c0002t0038 a0001c0003t0002 a0001c0003t0005 a0001c0003t0009 a0001c0003t0014 a0001c0003t0023 a0001c0003t0033 a0001c0004t0002 a0001c0004t0005 a0001c0005t0002 a0001c0005t0006 a0001c0007t0002 a0001c0007t0026 a0001c0007t0032 a0001c0009t0052 a0001c0011t0013 a0001c0020t0006 a0002c0006t0002 a0002c0006t0027 a0003c0008t0002 a0003c0008t0013 a0004c0010t0022 a0005c0016t0004 a0006c0017t0011	a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0019 others(152): Show a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0002g0045 a0001c0001t0002g0067 a0001c0001t0002g0075 a0001c0001t0002g0084 a0001c0001t0002g0100 a0001c0001t0002g0107 a0001c0001t0002g0117 a0001c0001t0002g0146 a0001c0001t0002g0178 a0001c0001t0002g0218 a0001c0001t0002g0226 a0001c0001t0002g0253 a0001c0001t0002g0257 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0002g0293 a0001c0001t0002g0296 a0001c0001t0002g0310 a0001c0001t0002g0315 a0001c0001t0003g0134 a0001c0001t0003g0268 a0001c0001t0004g0024 a0001c0001t0004g0076 a0001c0001t0004g0088 a0001c0001t0004g0123 a0001c0001t0004g0161 a0001c0001t0004g0184 a0001c0001t0004g0278 a0001c0001t0005g0049 a0001c0001t0005g0095 a0001c0001t0005g0101 a0001c0001t0005g0137 a0001c0001t0005g0258 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0057 a0001c0001t0006g0091 a0001c0001t0006g0106 a0001c0001t0006g0171 a0001c0001t0006g0279 a0001c0001t0007g0208 a0001c0001t0008g0232 a0001c0001t0008g0247 a0001c0001t0008g0255 a0001c0001t0009g0244 a0001c0001t0009g0249 a0001c0001t0014g0010 a0001c0001t0014g0021 a0001c0001t0015g0203 a0001c0001t0018g0186 a0001c0001t0019g0039 a0001c0001t0023g0251 a0001c0001t0024g0197 a0001c0001t0026g0223 a0001c0001t0040g0198 a0001c0001t0043g0275 a0001c0001t0044g0061 a0001c0001t0046g0014 a0001c0001t0047g0007 a0001c0001t0049g0270 a0001c0001t0050g0042 a0001c0001t0053g0187 a0001c0002t0001g0211 a0001c0002t0002g0012 a0001c0002t0002g0029 a0001c0002t0002g0048 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0060 a0001c0002t0002g0072 a0001c0002t0002g0097 a0001c0002t0002g0138 a0001c0002t0002g0141 a0001c0002t0002g0168 a0001c0002t0002g0172 a0001c0002t0002g0176 a0001c0002t0002g0196 a0001c0002t0002g0209 a0001c0002t0002g0213 a0001c0002t0002g0230 a0001c0002t0002g0246 a0001c0002t0002g0281 a0001c0002t0002g0291 a0001c0002t0002g0299 a0001c0002t0002g0312 a0001c0002t0003g0051 a0001c0002t0003g0114 a0001c0002t0004g0031 a0001c0002t0004g0040 a0001c0002t0004g0086 a0001c0002t0004g0089 a0001c0002t0004g0103 a0001c0002t0004g0133 a0001c0002t0004g0292 a0001c0002t0005g0050 a0001c0002t0005g0094 a0001c0002t0005g0231 a0001c0002t0005g0285 a0001c0002t0006g0104 a0001c0002t0007g0063 a0001c0002t0007g0277 a0001c0002t0008g0167 a0001c0002t0010g0200 a0001c0002t0013g0157 a0001c0002t0015g0202 a0001c0002t0015g0207 a0001c0002t0019g0288 a0001c0002t0019g0297 a0001c0002t0024g0228 a0001c0002t0027g0308 a0001c0002t0034g0015 a0001c0002t0035g0011 a0001c0002t0036g0083 a0001c0002t0038g0225 a0001c0003t0002g0125 a0001c0003t0002g0127 a0001c0003t0002g0169 a0001c0003t0002g0173 a0001c0003t0005g0259 a0001c0003t0009g0170 a0001c0003t0009g0303 a0001c0003t0014g0241 a0001c0003t0023g0234 a0001c0003t0033g0248 a0001c0004t0002g0192 a0001c0004t0002g0205 a0001c0004t0002g0206 a0001c0004t0005g0005 a0001c0004t0005g0006 a0001c0005t0002g0002 a0001c0005t0002g0111 a0001c0005t0006g0190 a0001c0007t0002g0302 a0001c0007t0026g0245 a0001c0007t0032g0301 a0001c0009t0052g0314 a0001c0011t0013g0233 a0001c0020t0006g0182 a0002c0006t0002g0030 a0002c0006t0002g0069 a0002c0006t0027g0237 a0003c0008t0002g0267 a0003c0008t0013g0139 a0003c0008t0013g0269 a0004c0010t0022g0306 a0005c0016t0004g0188 a0006c0017t0011g0229	155	312	0.4968	-27	c.44 others(44): Show c.44+3309_*44+3335delGGATCAATACCATACAAGTTAATTAAA	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	10/10			chr20	TogoVar
NFATC3_chr16_68080370_68234259	68114577	TTTTTTTT others(20): Show TTTTTTTTTTTTTTTTTGAGACGGAGTC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	186	0.0054	-27	c.104 others(44): Show c.104-7407_104-7381delTTTTTTTTTTTTTTGAGACGGAGTCTT	NFATC3	ENSG00000072736.19	transcript	ENST00000346183.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFATC3_chr16_68080370_68234259	68167810	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0093 a0006c0007t0001g0093	1	17	0.0588	-27	c.177 others(44): Show c.1774+808_1774+834delTTTTTTTTTTTTTTTTTTTTTTTTTTT	NFATC3	ENSG00000072736.19	transcript	ENST00000346183.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
NGB_chr14_77260483_77276206	77269700	CTCTCTCT others(20): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	364	0.0027	-27	c.90- others(40): Show c.90-401_90-375delAGAGAGAGAGAGAGAGAGAGAGAGAGA	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGEF_chr2_232873701_233018256	232995112	ATGTGTAC others(20): Show ATGTGTACAGTATGTATATATGTACAGT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03834.hp1 HG04204.hp1 others(1): Show HG02165.hp1 HG03834.hp1 HG04204.hp1 NA18995.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0005 a0001c0007t0001 a0001c0003t0005 a0001c0007t0001	a0001c0003t0005g0071 a0001c0003t0005g0096 a0001c0003t0005g0200 others(1): Show a0001c0003t0005g0071 a0001c0003t0005g0096 a0001c0003t0005g0200 a0001c0007t0001g0070	4	336	0.0119	-27	c.-75 others(46): Show c.-75+17929_-75+17955delACTGTACATATATACATACTGTACAC A	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGLY1_chr3_25713944_25788443	25760860	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02572.hp1 others(1): Show HG02145.hp1 HG02145.hp2 HG02572.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0215 a0001c0001t0001g0217 others(1): Show a0001c0001t0001g0098 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0219	4	5	0.8000	-27	c.492 others(44): Show c.492+3179_492+3205delTTTTTTTTTTTTTTTTTTTTTTTTTTT	NGLY1	ENSG00000151092.18	transcript	ENST00000280700.10	protein_coding	3/11			chr3	TogoVar
NHS_chrX_17370200_17740994	17425522	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18970.hp1 NA19060.hp1 NA18945.hp1 NA18970.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0058 a0002c0002t0001g0088 a0002c0002t0001g0089 a0001c0001t0004g0058 a0002c0002t0001g0088 a0002c0002t0001g0089	3	26	0.1154	-27	c.565 others(46): Show c.565+49223_565+49249delAAAAAAAAAAAAAAAAAAAAAAAAAA A	NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar

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